Gene Scoring 1028 total scored genes, 90 uncategorized

Database updated on February 1, 2023

Scoring process

We recognize that the gene scoring process we developed is only one of many methodologies that could have been employed to evaluate these genes. Our goal is to encourage more research, not less, and we hope that researchers will use these evaluations to design new experiments aimed at strengthening the evidence associating each gene with ASD. For more information on our scoring process, visit the About Gene Scoring page.

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S Category S [186 genes]

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Gene Symbol	Gene Name	Chromosome	Genetic Category	Gene Score	Syndromic	reports
ACTB	actin beta	7	Rare Single Gene Mutation, Syndromic	1	S	8
ADGRL1	adhesion G protein-coupled receptor L1	19	Rare Single Gene Mutation, Syndromic	3	S	5
ADNP	Activity-dependent neuroprotector homeobox	20	Rare Single Gene Mutation, Syndromic, Functional	1	S	64
ADSL	adenylosuccinate lyase	22	Rare Single Gene Mutation, Syndromic	1	S	9
AGO2	argonaute RISC catalytic component 2	8	Rare Single Gene Mutation, Syndromic	2	S	2
AHDC1	AT-hook DNA binding motif containing 1	1	Rare Single Gene Mutation, Syndromic	1	S	24
ALDH5A1	aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )	6	Rare Single Gene Mutation, Syndromic	1	S	14
ANKRD11	ankyrin repeat domain 11	16	Rare Single Gene Mutation, Syndromic	1	S	62
ANKRD17	ankyrin repeat domain 17	4	Rare Single Gene Mutation, Syndromic	2	S	6
ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	12	Rare Single Gene Mutation, Syndromic	2	S	4
ARHGEF9	Cdc42 guanine nucleotide exchange factor (GEF) 9	X	Rare Single Gene Mutation, Syndromic	1	S	17
ARID1B	AT-rich interaction domain 1B	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	69
ARID2	AT-rich interaction domain 2	12	Rare Single Gene Mutation, Syndromic	2	S	12
ARX	aristaless related homeobox	X	Rare Single Gene Mutation, Syndromic	1	S	24
ASXL3	Additional sex combs like 3 (Drosophila)	18	Rare Single Gene Mutation, Syndromic	1	S	40
ATP1A1	ATPase Na+/K+ transporting subunit alpha 1	1	Rare Single Gene Mutation, Syndromic	2	S	8
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19	Rare Single Gene Mutation, Syndromic, Functional	2	S	21
ATP2B1	ATPase plasma membrane Ca2+ transporting 1	12	Rare Single Gene Mutation, Syndromic	3	S	2
BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	2	Rare Single Gene Mutation, Syndromic, Functional	1	S	24
BICRA	BRD4 interacting chromatin remodeling complex associated protein	19	Rare Single Gene Mutation, Syndromic	2	S	2
BRAF	v-raf murine sarcoma viral oncogene homolog B	7	Rare Single Gene Mutation, Syndromic	1	S	16
BRSK2	BR serine/threonine kinase 2	11	Rare Single Gene Mutation, Syndromic	1	S	8
CACNA1A	Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	29
CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	12	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	58
CAMK2A	calcium/calmodulin dependent protein kinase II alpha	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2	S	11
CDK19	cyclin dependent kinase 19	6	Rare Single Gene Mutation, Syndromic	3	S	7
CDKL5	cyclin-dependent kinase-like 5	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	49
CELF2	CUGBP Elav-like family member 2	10	Rare Single Gene Mutation, Syndromic	2	S	4
CEP290	Centrosomal protein 290kDa	12	Rare Single Gene Mutation, Syndromic	2	S	11
CHAMP1	chromosome alignment maintaining phosphoprotein 1	13	Rare Single Gene Mutation, Syndromic, Functional	1	S	13
CHD1	chromodomain helicase DNA binding protein 1	5	Rare Single Gene Mutation, Syndromic	2	S	7
CHD2	Chromodomain helicase DNA binding protein 2	15	Rare Single Gene Mutation, Syndromic, Functional	1	S	69
CHD3	chromodomain helicase DNA binding protein 3	17	Rare Single Gene Mutation, Syndromic	1	S	12
CHD7	chromodomain helicase DNA binding protein 7	8	Rare Single Gene Mutation, Syndromic, Functional	1	S	37
CHD8	chromodomain helicase DNA binding protein 8	14	Rare Single Gene Mutation, Syndromic, Functional	1	S	84
CLCN4	chloride voltage-gated channel 4	X	Rare Single Gene Mutation, Syndromic	2	S	10
CNKSR2	connector enhancer of kinase suppressor of Ras 2	X	Rare Single Gene Mutation, Syndromic, Functional	2	S	12
CNOT1	CCR4-NOT transcription complex subunit 1	16	Rare Single Gene Mutation, Syndromic	2	S	8
CNOT3	CCR4-NOT transcription complex subunit 3	19	Rare Single Gene Mutation, Syndromic	1	S	15
CNTNAP2	contactin associated protein-like 2	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2	S	84
CREBBP	CREB binding protein	16	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	35
CSDE1	cold shock domain containing E1	1	Rare Single Gene Mutation, Syndromic	1	S	5
CSNK1G1	casein kinase 1 gamma 1	15	Rare Single Gene Mutation, Syndromic	3	S	3
CSNK2A1	casein kinase 2 alpha 1	20	Rare Single Gene Mutation, Syndromic, Functional	1	S	15
CTCF	CCCTC-binding factor	16	Rare Single Gene Mutation, Syndromic, Functional	1	S	22
CTR9	CTR9homolog, Paf1/RNA polymerase II complex component	11	Rare Single Gene Mutation, Syndromic	3	S	9
CUX2	cut like homeobox 2	12	Rare Single Gene Mutation, Syndromic	2	S	12
DDX3X	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	42
DEAF1	DEAF1 transcription factor	11	Rare Single Gene Mutation, Syndromic	1	S	25
DHCR7	7-dehydrocholesterol reductase	11	Rare Single Gene Mutation, Syndromic	1	S	19
DLL1	delta like canonical Notch ligand 1	6	Rare Single Gene Mutation, Syndromic	2	S	4
DMPK	dystrophia myotonica-protein kinase	19	Rare Single Gene Mutation, Syndromic	1	S	11
DNMT3A	DNA (cytosine-5-)-methyltransferase 3 alpha	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	26
DYRK1A	Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	21	Rare Single Gene Mutation, Syndromic, Functional	1	S	66
EBF3	early B-cell factor 3	10	Rare Single Gene Mutation, Syndromic, Functional	1	S	18
EHMT1	Euchromatic histone-lysine N-methyltransferase 1	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	35
ELP2	elongator acetyltransferase complex subunit 2	18	Syndromic	2	S	6
EP300	E1A binding protein p300	22	Rare Single Gene Mutation, Syndromic	1	S	21
FBXO11	F-box protein 11	2	Rare Single Gene Mutation, Syndromic	2	S	10
FGF13	fibroblast growth factor 13	X	Syndromic	3	S	2
FMR1	fragile X mental retardation 1	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	52
FOXG1	Forkhead box G1	14	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	51
FOXP1	forkhead box P1	3	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	64
GABBR2	gamma-aminobutyric acid type B receptor subunit 2	9	Rare Single Gene Mutation, Syndromic, Functional	2	S	14
GNAI1	G protein subunit alpha i1	7	Rare Single Gene Mutation, Syndromic	1	S	4
HDAC4	histone deacetylase 4	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	17
HERC1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	15	Rare Single Gene Mutation, Syndromic, Functional	2	S	12
HIVEP2	HIVEP zinc finger 2	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	12
HNRNPD	heterogeneous nuclear ribonucleoprotein D	4	Rare Single Gene Mutation, Syndromic	2	S	5
HNRNPK	heterogeneous nuclear ribonucleoprotein K	9	Rare Single Gene Mutation, Syndromic	2	S	11
HNRNPR	heterogeneous nuclear ribonucleoprotein R	1	Rare Single Gene Mutation, Syndromic	2	S	6
HNRNPU	heterogeneous nuclear ribonucleoprotein U	1	Rare Single Gene Mutation, Syndromic, Functional	1	S	33
HNRNPUL2	heterogeneous nuclear ribonucleoprotein U like 2	11	Rare Single Gene Mutation, Syndromic	2	S	4
IQSEC2	IQ motif and Sec7 domain 2	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	47
IRF2BPL	Interferon regulatory factor 2 binding protein-like	14	Rare Single Gene Mutation, Syndromic	1	S	11
KANSL1	KAT8 regulatory NSL complex subunit 1	17	Rare Single Gene Mutation, Syndromic, Functional	1	S	10
KAT6A	K(lysine) acetyltransferase 6A	8	Rare Single Gene Mutation, Syndromic, Functional	2	S	25
KCNB1	potassium voltage-gated channel subfamily B member 1	20	Rare Single Gene Mutation, Syndromic	1	S	20
KDM3B	lysine demethylase 3B	5	Rare Single Gene Mutation, Syndromic	1	S	3
KIF1A	kinesin family member 1A	2	Rare Single Gene Mutation, Syndromic	2	S	11
KIF5C	Kinesin family member 5C	2	Rare Single Gene Mutation, Syndromic, Functional	2	S	12
KMT2A	Lysine (K)-specific methyltransferase 2A	11	Rare Single Gene Mutation, Syndromic, Functional	1	S	40
KMT2C	Lysine (K)-specific methyltransferase 2C	7	Rare Single Gene Mutation, Syndromic, Functional	1	S	28
KMT2E	Lysine (K)-specific methyltransferase 2E	7	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	17
MAGEL2	MAGE-like 2	15	Rare Single Gene Mutation, Syndromic, Functional	1	S	22
MBD5	Methyl-CpG binding domain protein 5	2	Rare Single Gene Mutation, Syndromic, Functional	1	S	41
MBOAT7	membrane bound O-acyltransferase domain containing 7	19	Rare Single Gene Mutation, Syndromic	1	S	14
MECP2	Methyl CpG binding protein 2	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	109
MED12L	mediator complex subunit 12L	3	Rare Single Gene Mutation, Syndromic	2	S	5
MED13	mediator complex subunit 13	17	Rare Single Gene Mutation, Syndromic	1	S	8
MED13L	Mediator complex subunit 13-like	12	Rare Single Gene Mutation, Syndromic	1	S	44
MEF2C	myocyte enhancer factor 2C	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	46
MEIS2	Meis homeobox 2	15	Rare Single Gene Mutation, Syndromic	1	S	12
MSL3	MSL complex subunit 3	X	Rare Single Gene Mutation, Syndromic	1	S	6
MSX2	msh homeobox 2	5	Rare Single Gene Mutation, Syndromic	3	S	2
MTOR	mechanistic target of rapamycin kinase	1	Rare Single Gene Mutation, Syndromic, Functional	1	S	29
NAA15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	4	Rare Single Gene Mutation, Syndromic	1	S	17
NACC1	nucleus accumbens associated 1	19	Rare Single Gene Mutation, Syndromic	1	S	9
NBEA	neurobeachin	13	Rare Single Gene Mutation, Syndromic, Functional	1	S	22
NF1	neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	17	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	33
NFIB	nuclear factor I B	9	Rare Single Gene Mutation, Syndromic	2	S	5
NIPBL	Nipped-B homolog (Drosophila)	5	Rare Single Gene Mutation, Syndromic	1	S	17
NR2F1	nuclear receptor subfamily 2 group F member 1	5	Rare Single Gene Mutation, Syndromic, Functional	2	S	22
NR3C2	Nuclear receptor subfamily 3, group C, member 2	4	Rare Single Gene Mutation, Syndromic	1	S	11
NSD1	nuclear receptor binding SET domain protein 1	5	Rare Single Gene Mutation, Syndromic	1	S	26
NSD2	nuclear receptor binding SET domain protein 2	4	Rare Single Gene Mutation, Syndromic	2	S	12
NTNG1	netrin G1	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	8
PABPC1	poly(A) binding protein cytoplasmic 1	8	Rare Single Gene Mutation, Syndromic	3	S	6
PACS1	phosphofurin acidic cluster sorting protein 1	11	Rare Single Gene Mutation, Syndromic	1	S	13
PCCB	propionyl-CoA carboxylase beta subunit	3	Rare Single Gene Mutation, Syndromic	1	S	10
PCDH19	protocadherin 19	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	54
PHF21A	PHD finger protein 21A	11	Rare Single Gene Mutation, Syndromic	1	S	14
PHIP	pleckstrin homology domain interacting protein	6	Rare Single Gene Mutation, Syndromic	1	S	21
PJA1	praja ring finger ubiquitin ligase 1	X	Syndromic	3	S	1
POGZ	Pogo transposable element with ZNF domain	1	Rare Single Gene Mutation, Syndromic, Functional	1	S	54
POLR2A	RNA polymerase II subunit A	17	Rare Single Gene Mutation, Syndromic	3	S	8
POLR3A	RNA polymerase III subunit A	10	Rare Single Gene Mutation, Syndromic	3	S	9
POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	1	Rare Single Gene Mutation, Syndromic	1	S	8
PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	17	Rare Single Gene Mutation, Syndromic	2	S	9
PPP2R5D	Protein phosphatase 2, regulatory subunit B', delta	6	Rare Single Gene Mutation, Syndromic	1	S	27
PPP3CA	protein phosphatase 3 catalytic subunit alpha	4	Rare Single Gene Mutation, Syndromic	3	S	10
PRODH	Proline dehydrogenase (oxidase) 1	22	Syndromic, Genetic Association	2	S	6
PRPF8	pre-mRNA processing factor 8	17	Rare Single Gene Mutation, Syndromic	3	S	8
PRR12	proline rich 12	19	Rare Single Gene Mutation, Syndromic	1	S	7
PSMD12	proteasome 26S subunit, non-ATPase 12	17	Rare Single Gene Mutation, Syndromic	1	S	4
PTEN	phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	10	Rare Single Gene Mutation, Syndromic, Functional	1	S	80
PTPN11	protein tyrosine phosphatase, non-receptor type 11	12	Rare Single Gene Mutation, Syndromic, Functional	1	S	23
RAI1	retinoic acid induced 1	17	Rare Single Gene Mutation, Syndromic, Functional	1	S	32
RERE	Arginine-glutamic acid dipeptide (RE) repeats	1	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	9
RFX4	regulatory factor X4	12	Rare Single Gene Mutation, Syndromic	3	S	2
RFX7	regulatory factor X7	15	Rare Single Gene Mutation, Syndromic	3	S	4
RIMS2	regulating synaptic membrane exocytosis 2	8	Rare Single Gene Mutation, Syndromic, Genetic Association	3	S	5
RNF135	Ring finger protein 135	17	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	5
RORB	RAR related orphan receptor B	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	10
RPS6KA3	Ribosomal protein S6 kinase, 90kDa, polypeptide 3	X	Rare Single Gene Mutation, Syndromic	2	S	16
SATB1	SATB homeobox 1	3	Rare Single Gene Mutation, Syndromic	1	S	4
SATB2	SATB homeobox 2	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	41
SCAF4	SR-related CTD associated factor 4	21	Rare Single Gene Mutation, Syndromic	2	S	5
SCN1A	sodium channel, voltage-gated, type I, alpha subunit	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	85
SETD1A	SET domain containing 1A, histone lysine methyltransferase	16	Rare Single Gene Mutation, Syndromic, Functional	1	S	8
SETD1B	SET domain containing 1B	12	Rare Single Gene Mutation, Syndromic, Functional	2	S	18
SETD5	SET domain containing 5	3	Rare Single Gene Mutation, Syndromic	1	S	31
SHANK3	SH3 and multiple ankyrin repeat domains 3	22	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	125
SIN3A	SIN3 transcription regulator family member A	15	Rare Single Gene Mutation, Syndromic	1	S	15
SIN3B	SIN3 transcription regulator family member B	19	Rare Single Gene Mutation, Syndromic	2	S	5
SLC6A1	Solute carrier family 6 (neurotransmitter transporter), member 1	3	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	44
SLC9A6	solute carrier family 9 (sodium/hydrogen exchanger), member 6	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	20
SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	9	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	26
SMARCC2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	12	Rare Single Gene Mutation, Syndromic, Functional	1	S	16
SMC3	structural maintenance of chromosomes 3	10	Rare Single Gene Mutation, Syndromic	2	S	11
SON	SONDNA binding protein	21	Rare Single Gene Mutation, Syndromic, Functional	1	S	19
SOX5	SRY-box 5	12	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	16
SPTBN1	spectrin beta, non-erythrocytic 1	2	Rare Single Gene Mutation, Syndromic	2	S	9
SRRM2	serine/arginine repetitive matrix 2	16	Rare Single Gene Mutation, Syndromic	2	S	12
STXBP1	Syntaxin binding protein 1	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	66
SUPT16H	SPT16 homolog, facilitates chromatin remodeling subunit	14	Rare Single Gene Mutation, Syndromic	2	S	8
SYNGAP1	synaptic Ras GTPase activating protein 1	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	84
TAF4	TATA-box binding protein associated factor 4	20	Rare Single Gene Mutation, Syndromic	2	S	4
TANC2	etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	17	Rare Single Gene Mutation, Syndromic, Functional	1	S	14
TAOK1	TAO kinase 1	17	Rare Single Gene Mutation, Syndromic	1	S	7
TBCK	TBC1 domain containing kinase	4	Rare Single Gene Mutation, Syndromic	1	S	3
TCF20	Transcription factor 20 (AR1)	22	Rare Single Gene Mutation, Syndromic, Functional	1	S	16
TCEAL1	transcription elongation factor A like 1	X	Rare Single Gene Mutation, Syndromic	3	S	2
TCF4	Transcription factor 4	18	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	62
TLK2	tousled-like kinase 2	17	Rare Single Gene Mutation, Syndromic	1	S	19
TRAF7	TNF receptor associated factor 7	16	Rare Single Gene Mutation, Syndromic	1	S	8
TRIP12	Thyroid hormone receptor interactor 12	2	Rare Single Gene Mutation, Syndromic	1	S	30
TRRAP	transformation/transcription domain associated protein	7	Rare Single Gene Mutation, Syndromic	2	S	11
TSC1	tuberous sclerosis 1	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	30
TSC2	tuberous sclerosis 2	16	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	47
TTN	titin	2	Rare Single Gene Mutation, Syndromic	2	S	27
UBE3A	ubiquitin protein ligase E3A	15	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	39
UNC13A	unc-13 homolog A	19	Rare Single Gene Mutation, Syndromic	2	S	9
UPF3B	UPF3B, regulator of nonsense mediated mRNA decay	X	Rare Single Gene Mutation, Syndromic	1	S	17
USP7	Ubiquitin specific peptidase 7 (herpes virus-associated)	16	Rare Single Gene Mutation, Syndromic, Functional	2	S	11
USP9X	ubiquitin specific peptidase 9 X-linked	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	14
VPS13B	vacuolar protein sorting 13 homolog B (yeast)	8	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	26
WAC	WW domain containing adaptor with coiled-coil	10	Rare Single Gene Mutation, Syndromic	1	S	26
YWHAG	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma	7	Rare Single Gene Mutation, Syndromic	3	S	9
YY1	YY1transcription factor	14	Rare Single Gene Mutation, Syndromic, Functional	1	S	7
ZBTB20	Zinc finger and BTB domain containing 20	3	Rare Single Gene Mutation, Syndromic	1	S	29
ZMIZ1	zinc finger MIZ-type containing 1	10	Rare Single Gene Mutation, Syndromic	2	S	8
ZMYM2	zinc finger MYM-type containing 2	13	Rare Single Gene Mutation, Syndromic	2	S	8
ZMYND8	zinc finger MYND-type containing 8	20	Rare Single Gene Mutation, Syndromic	1	S	8
ZNF292	zinc finger protein 292	6	Rare Single Gene Mutation, Syndromic	1	S	11
ZNF462	Zinc finger protein 462	9	Rare Single Gene Mutation, Syndromic	1	S	11

1 Category 1 [232 genes]

Gene Symbol	Gene Name	Chromosome	Genetic Category	Gene Score	Syndromic	reports
ACTB	actin beta	7	Rare Single Gene Mutation, Syndromic	1	S	8
ADNP	Activity-dependent neuroprotector homeobox	20	Rare Single Gene Mutation, Syndromic, Functional	1	S	64
ADSL	adenylosuccinate lyase	22	Rare Single Gene Mutation, Syndromic	1	S	9
AFF2	AF4/FMR2 family, member 2	X	Rare Single Gene Mutation, Syndromic	1		19
AHDC1	AT-hook DNA binding motif containing 1	1	Rare Single Gene Mutation, Syndromic	1	S	24
ALDH5A1	aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )	6	Rare Single Gene Mutation, Syndromic	1	S	14
ANK2	Ankyrin 2, neuronal	4	Rare Single Gene Mutation, Functional	1		22
ABCE1	ATP binding cassette subfamily E member 1	4	Rare Single Gene Mutation	1		3
ANK3	ankyrin 3	10	Rare Single Gene Mutation, Genetic Association, Functional	1		30
ANKRD11	ankyrin repeat domain 11	16	Rare Single Gene Mutation, Syndromic	1	S	62
AP2S1	adaptor related protein complex 2 subunit sigma 1	19	Rare Single Gene Mutation	1		3
ARHGEF9	Cdc42 guanine nucleotide exchange factor (GEF) 9	X	Rare Single Gene Mutation, Syndromic	1	S	17
ARID1B	AT-rich interaction domain 1B	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	69
ARX	aristaless related homeobox	X	Rare Single Gene Mutation, Syndromic	1	S	24
ANP32A	acidic nuclear phosphoprotein 32 family member A	15	Rare Single Gene Mutation, Functional	1		4
ARF3	ADP ribosylation factor 3	12	Rare Single Gene Mutation, Syndromic	1		5
ASH1L	Ash1 (absent, small, or homeotic)-like (Drosophila)	1	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		29
ASXL3	Additional sex combs like 3 (Drosophila)	18	Rare Single Gene Mutation, Syndromic	1	S	40
ATRX	alpha thalassemia/mental retardation syndrome X-linked	X	Rare Single Gene Mutation, Syndromic	1		28
AUTS2	activator of transcription and developmental regulatorAUTS2	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		56
BAZ2B	bromodomain adjacent to zinc finger domain 2B	2	Rare Single Gene Mutation	1		7
BCKDK	Branched chain ketoacid dehydrogenase kinase	16	Rare Single Gene Mutation	1		7
BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	2	Rare Single Gene Mutation, Syndromic, Functional	1	S	24
BRAF	v-raf murine sarcoma viral oncogene homolog B	7	Rare Single Gene Mutation, Syndromic	1	S	16
BRSK2	BR serine/threonine kinase 2	11	Rare Single Gene Mutation, Syndromic	1	S	8
CACNA1A	Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	29
CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	12	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	58
CACNA1E	calcium voltage-gated channel subunit alpha1 E	1	Rare Single Gene Mutation	1		19
CACNA2D3	Calcium channel, voltage-dependent, alpha 2/delta subunit 3	3	Rare Single Gene Mutation, Functional	1		11
CAPRIN1	Cell cycle associated protein 1	11	Rare Single Gene Mutation, Syndromic, Functional	1		6
CASK	calcium/calmodulin dependent serine protein kinase	X	Rare Single Gene Mutation, Syndromic, Functional	1		22
CASZ1	castor zinc finger 1	1	Rare Single Gene Mutation	1		6
CAMTA2	calmodulin binding transcription activator 2	17	Rare Single Gene Mutation, Syndromic	1		3
CDKL5	cyclin-dependent kinase-like 5	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	49
CELF4	CUGBP, Elav-like family member 4	18	Rare Single Gene Mutation, Functional	1		14
CHAMP1	chromosome alignment maintaining phosphoprotein 1	13	Rare Single Gene Mutation, Syndromic, Functional	1	S	13
CHD2	Chromodomain helicase DNA binding protein 2	15	Rare Single Gene Mutation, Syndromic, Functional	1	S	69
CHD3	chromodomain helicase DNA binding protein 3	17	Rare Single Gene Mutation, Syndromic	1	S	12
CHD7	chromodomain helicase DNA binding protein 7	8	Rare Single Gene Mutation, Syndromic, Functional	1	S	37
CHD8	chromodomain helicase DNA binding protein 8	14	Rare Single Gene Mutation, Syndromic, Functional	1	S	84
CIC	capicua transcriptional repressor	19	Rare Single Gene Mutation, Syndromic, Functional	1		10
CNOT3	CCR4-NOT transcription complex subunit 3	19	Rare Single Gene Mutation, Syndromic	1	S	15
CORO1A	coronin 1A	16	Rare Single Gene Mutation	1		3
CREBBP	CREB binding protein	16	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	35
CPSF7	cleavage and polyadenylation specific factor 7	11	Rare Single Gene Mutation	1		7
CSDE1	cold shock domain containing E1	1	Rare Single Gene Mutation, Syndromic	1	S	5
CSNK2A1	casein kinase 2 alpha 1	20	Rare Single Gene Mutation, Syndromic, Functional	1	S	15
CTCF	CCCTC-binding factor	16	Rare Single Gene Mutation, Syndromic, Functional	1	S	22
CTNNB1	catenin beta 1	3	Rare Single Gene Mutation, Syndromic	1		31
CUL3	Cullin 3	2	Rare Single Gene Mutation, Genetic Association, Functional	1		27
DDX3X	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	42
DEAF1	DEAF1 transcription factor	11	Rare Single Gene Mutation, Syndromic	1	S	25
DHCR7	7-dehydrocholesterol reductase	11	Rare Single Gene Mutation, Syndromic	1	S	19
DIP2A	DIP2 disco-interacting protein 2 homolog A (Drosophila)	21	Rare Single Gene Mutation, Functional	1		12
DLG4	discs large MAGUK scaffold protein 4	17	Rare Single Gene Mutation, Syndromic, Functional	1		18
DMPK	dystrophia myotonica-protein kinase	19	Rare Single Gene Mutation, Syndromic	1	S	11
DNMT3A	DNA (cytosine-5-)-methyltransferase 3 alpha	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	26
DPYSL2	dihydropyrimidinase like 2	8	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		16
DSCAM	Down syndrome cell adhesion molecule	21	Rare Single Gene Mutation, Genetic Association, Functional	1		16
DYNC1H1	dynein cytoplasmic 1 heavy chain 1	14	Rare Single Gene Mutation, Syndromic, Functional	1		27
DYRK1A	Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	21	Rare Single Gene Mutation, Syndromic, Functional	1	S	66
EBF3	early B-cell factor 3	10	Rare Single Gene Mutation, Syndromic, Functional	1	S	18
EHMT1	Euchromatic histone-lysine N-methyltransferase 1	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	35
EIF3G	eukaryotic translation initiation factor 3 subunit G	19	Rare Single Gene Mutation	1		5
ELAVL3	ELAV like neuron-specific RNA binding protein 3	19	Rare Single Gene Mutation	1		6
EP300	E1A binding protein p300	22	Rare Single Gene Mutation, Syndromic	1	S	21
FMR1	fragile X mental retardation 1	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	52
FOXG1	Forkhead box G1	14	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	51
FOXP1	forkhead box P1	3	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	64
FOXP2	forkhead box P2	7	Rare Single Gene Mutation, Genetic Association, Functional	1		52
GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	5	Rare Single Gene Mutation	1		4
GABRB3	gamma-aminobutyric acid (GABA) A receptor, beta 3	15	Rare Single Gene Mutation, Genetic Association, Functional	1		46
GFAP	glial fibrillary acidic protein	17	Rare Single Gene Mutation	1		1
GIGYF1	GRB10 interacting GYF protein 1	7	Rare Single Gene Mutation	1		15
GIGYF2	GRB10 interacting GYF protein 2	2	Rare Single Gene Mutation	1		9
GNAI1	G protein subunit alpha i1	7	Rare Single Gene Mutation, Syndromic	1	S	4
GRIA2	glutamate ionotropic receptor AMPA type subunit 2	4	Rare Single Gene Mutation	1		11
GRIN1	Glutamate receptor, ionotropic, N-methyl D-aspartate 1	9	Rare Single Gene Mutation, Syndromic, Functional	1		24
GRIN2A	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	16	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		55
GRIN2B	glutamate receptor, inotropic, N-methyl D-apartate 2B	12	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		73
HDLBP	high density lipoprotein binding protein	2	Rare Single Gene Mutation	1		6
HECTD4	HECT domain E3 ubiquitin protein ligase 4	12	Rare Single Gene Mutation, Syndromic	1		10
HIVEP2	HIVEP zinc finger 2	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	12
HNRNPH2	heterogeneous nuclear ribonucleoprotein H2	X	Rare Single Gene Mutation, Syndromic	1		17
HNRNPU	heterogeneous nuclear ribonucleoprotein U	1	Rare Single Gene Mutation, Syndromic, Functional	1	S	33
HRAS	v-Ha-ras Harvey rat sarcoma viral oncogene homolog	11	Rare Single Gene Mutation, Syndromic, Genetic Association	1		12
IQSEC2	IQ motif and Sec7 domain 2	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	47
IRF2BPL	Interferon regulatory factor 2 binding protein-like	14	Rare Single Gene Mutation, Syndromic	1	S	11
KANSL1	KAT8 regulatory NSL complex subunit 1	17	Rare Single Gene Mutation, Syndromic, Functional	1	S	10
KATNAL2	Katanin p60 subunit A-like 2	18	Rare Single Gene Mutation, Functional	1		14
KCNB1	potassium voltage-gated channel subfamily B member 1	20	Rare Single Gene Mutation, Syndromic	1	S	20
KCNQ3	potassium voltage-gated channel subfamily Q member 3	8	Rare Single Gene Mutation, Genetic Association	1		19
KDM3B	lysine demethylase 3B	5	Rare Single Gene Mutation, Syndromic	1	S	3
KDM5B	Lysine (K)-specific demethylase 5B	1	Rare Single Gene Mutation, Syndromic, Functional	1		19
KDM5C	lysine demethylase 5C	X	Rare Single Gene Mutation, Syndromic, Functional	1		32
KDM6B	Lysine (K)-specific demethylase 6B	17	Rare Single Gene Mutation, Syndromic, Functional	1		18
KIAA0232	KIAA0232	4	Rare Single Gene Mutation	1		4
KMT2A	Lysine (K)-specific methyltransferase 2A	11	Rare Single Gene Mutation, Syndromic, Functional	1	S	40
KDM2B	lysine demethylase 2B	12	Rare Single Gene Mutation, Syndromic, Functional	1		9
KLHL20	kelch like family member 20	1	Rare Single Gene Mutation, Syndromic, Functional	1		4
KMT2C	Lysine (K)-specific methyltransferase 2C	7	Rare Single Gene Mutation, Syndromic, Functional	1	S	28
KMT2E	Lysine (K)-specific methyltransferase 2E	7	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	17
KMT5B	lysine methyltransferase 5B	11	Rare Single Gene Mutation, Syndromic, Functional	1		21
LDB1	LIM domain binding 1	10	Rare Single Gene Mutation	1		2
LRRC4C	leucine rich repeat containing 4C	11	Rare Single Gene Mutation	1		2
LZTR1	Leucine-zipper-like transcription regulator 1	22	Rare Single Gene Mutation, Syndromic	1		16
MAGEL2	MAGE-like 2	15	Rare Single Gene Mutation, Syndromic, Functional	1	S	22
MAP1A	microtubule associated protein 1A	15	Rare Single Gene Mutation	1		4
MBD5	Methyl-CpG binding domain protein 5	2	Rare Single Gene Mutation, Syndromic, Functional	1	S	41
MBOAT7	membrane bound O-acyltransferase domain containing 7	19	Rare Single Gene Mutation, Syndromic	1	S	14
MECP2	Methyl CpG binding protein 2	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	109
MED13	mediator complex subunit 13	17	Rare Single Gene Mutation, Syndromic	1	S	8
MED13L	Mediator complex subunit 13-like	12	Rare Single Gene Mutation, Syndromic	1	S	44
MEF2C	myocyte enhancer factor 2C	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	46
MEIS2	Meis homeobox 2	15	Rare Single Gene Mutation, Syndromic	1	S	12
MKX	mohawk homeobox	10	Rare Single Gene Mutation	1		3
MSL3	MSL complex subunit 3	X	Rare Single Gene Mutation, Syndromic	1	S	6
MTOR	mechanistic target of rapamycin kinase	1	Rare Single Gene Mutation, Syndromic, Functional	1	S	29
MYT1L	Myelin transcription factor 1-like	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		33
NAA15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	4	Rare Single Gene Mutation, Syndromic	1	S	17
NACC1	nucleus accumbens associated 1	19	Rare Single Gene Mutation, Syndromic	1	S	9
NBEA	neurobeachin	13	Rare Single Gene Mutation, Syndromic, Functional	1	S	22
NCKAP1	NCK-associated protein 1	2	Rare Single Gene Mutation, Syndromic	1		14
MYCBP2	MYC binding protein 2	13	Rare Single Gene Mutation, Syndromic	1		7
NCOA1	nuclear receptor coactivator 1	2	Rare Single Gene Mutation	1		4
NEXMIF	neurite extension and migration factor	X	Rare Single Gene Mutation, Syndromic, Functional	1		32
NF1	neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	17	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	33
NIPBL	Nipped-B homolog (Drosophila)	5	Rare Single Gene Mutation, Syndromic	1	S	17
NLGN2	Neuroligin 2	17	Rare Single Gene Mutation, Functional	1		9
NLGN3	neuroligin 3	X	Rare Single Gene Mutation, Genetic Association, Functional	1		39
NLGN4X	neuroligin 4, X-linked	X	Rare Single Gene Mutation, Syndromic, Genetic Association	1		39
NR3C2	Nuclear receptor subfamily 3, group C, member 2	4	Rare Single Gene Mutation, Syndromic	1	S	11
NR4A2	nuclear receptor subfamily 4 group A member 2	2	Rare Single Gene Mutation, Syndromic	1		10
NRXN1	neurexin 1	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		103
NRXN2	neurexin 2	11	Rare Single Gene Mutation, Syndromic, Genetic Association	1		14
NRXN3	neurexin 3	14	Rare Single Gene Mutation, Genetic Association, Functional	1		23
NSD1	nuclear receptor binding SET domain protein 1	5	Rare Single Gene Mutation, Syndromic	1	S	26
NUP155	nucleoporin 155	5	Rare Single Gene Mutation	1		3
PACS1	phosphofurin acidic cluster sorting protein 1	11	Rare Single Gene Mutation, Syndromic	1	S	13
PAH	Phenylalanine hydroxylase	12	Rare Single Gene Mutation, Syndromic	1		10
PAX5	Paired box 5	9	Rare Single Gene Mutation	1		10
PCCB	propionyl-CoA carboxylase beta subunit	3	Rare Single Gene Mutation, Syndromic	1	S	10
PCDH19	protocadherin 19	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	54
PHF12	PHD finger protein 12	17	Rare Single Gene Mutation	1		4
PHF2	PHD finger protein 2	9	Rare Single Gene Mutation	1		8
PHF21A	PHD finger protein 21A	11	Rare Single Gene Mutation, Syndromic	1	S	14
PHF3	PHD finger protein 3	6	Rare Single Gene Mutation	1		5
PHIP	pleckstrin homology domain interacting protein	6	Rare Single Gene Mutation, Syndromic	1	S	21
POGZ	Pogo transposable element with ZNF domain	1	Rare Single Gene Mutation, Syndromic, Functional	1	S	54
POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	1	Rare Single Gene Mutation, Syndromic	1	S	8
PPP1R9B	protein phosphatase 1 regulatory subunit 9B	17	Rare Single Gene Mutation	1		4
PPP2R5D	Protein phosphatase 2, regulatory subunit B', delta	6	Rare Single Gene Mutation, Syndromic	1	S	27
PPP5C	protein phosphatase 5 catalytic subunit	19	Rare Single Gene Mutation	1		3
PRR12	proline rich 12	19	Rare Single Gene Mutation, Syndromic	1	S	7
PSMD12	proteasome 26S subunit, non-ATPase 12	17	Rare Single Gene Mutation, Syndromic	1	S	4
PTCHD1	patched domain containing 1	X	Rare Single Gene Mutation, Genetic Association	1		15
PTEN	phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	10	Rare Single Gene Mutation, Syndromic, Functional	1	S	80
PRR14L	proline rich 14 like	22	Rare Single Gene Mutation	1		5
PSMD11	proteasome 26S subunit, non-ATPase 11	17	Rare Single Gene Mutation	1		2
PSMD6	proteasome 26S subunit, non-ATPase 6	3	Rare Single Gene Mutation	1		3
PTK7	Protein tyrosine kinase 7 (inactive)	6	Rare Single Gene Mutation	1		7
PTPN11	protein tyrosine phosphatase, non-receptor type 11	12	Rare Single Gene Mutation, Syndromic, Functional	1	S	23
RAI1	retinoic acid induced 1	17	Rare Single Gene Mutation, Syndromic, Functional	1	S	32
RALGAPB	Ral GTPase activating protein non-catalytic beta subunit	20	Rare Single Gene Mutation	1		6
RELN	Reelin	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		62
RERE	Arginine-glutamic acid dipeptide (RE) repeats	1	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	9
RFX3	regulatory factor X3	9	Rare Single Gene Mutation, Syndromic	1		10
RIMS1	Regulating synaptic membrane exocytosis 1	6	Rare Single Gene Mutation, Genetic Association	1		9
RORB	RAR related orphan receptor B	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	10
RUNX1T1	RUNX1 partner transcriptional co-repressor 1	8	Rare Single Gene Mutation	1		3
SATB1	SATB homeobox 1	3	Rare Single Gene Mutation, Syndromic	1	S	4
SCN1A	sodium channel, voltage-gated, type I, alpha subunit	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	85
SCN2A	sodium channel, voltage-gated, type II, alpha subunit	2	Rare Single Gene Mutation, Syndromic, Functional	1		97
SCN8A	sodium channel, voltage gated, type VIII, alpha subunit	12	Rare Single Gene Mutation, Syndromic, Functional	1		53
SETBP1	SET binding protein 1	18	Rare Single Gene Mutation, Syndromic	1		26
SETD1A	SET domain containing 1A, histone lysine methyltransferase	16	Rare Single Gene Mutation, Syndromic, Functional	1	S	8
SETD2	SET domain containing 2	3	Rare Single Gene Mutation, Syndromic	1		18
SETD5	SET domain containing 5	3	Rare Single Gene Mutation, Syndromic	1	S	31
SHANK2	SH3 and multiple ankyrin repeat domains 2	11	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		47
SHANK3	SH3 and multiple ankyrin repeat domains 3	22	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	125
SIN3A	SIN3 transcription regulator family member A	15	Rare Single Gene Mutation, Syndromic	1	S	15
SKI	SKIproto-oncogene	1	Rare Single Gene Mutation	1		5
SLC6A1	Solute carrier family 6 (neurotransmitter transporter), member 1	3	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	44
SLC9A6	solute carrier family 9 (sodium/hydrogen exchanger), member 6	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	20
SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	9	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	26
SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	19	Rare Single Gene Mutation, Syndromic, Functional	1		18
SMARCC2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	12	Rare Single Gene Mutation, Syndromic, Functional	1	S	16
SON	SONDNA binding protein	21	Rare Single Gene Mutation, Syndromic, Functional	1	S	19
SOS2	SOS Ras/Rho guanine nucleotide exchange factor 2	14	Rare Single Gene Mutation, Syndromic	1		6
SOX5	SRY-box 5	12	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	16
SPAST	Spastin	2	Rare Single Gene Mutation, Syndromic	1		14
SRCAP	Snf2 related CREBBP activator protein	16	Rare Single Gene Mutation, Syndromic	1		9
SRPRA	SRP receptor subunit alpha	11	Rare Single Gene Mutation	1		3
STXBP1	Syntaxin binding protein 1	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	66
SYN1	Synapsin 1	X	Rare Single Gene Mutation, Functional	1		24
SYNGAP1	synaptic Ras GTPase activating protein 1	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	84
TANC2	etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	17	Rare Single Gene Mutation, Syndromic, Functional	1	S	14
TAOK1	TAO kinase 1	17	Rare Single Gene Mutation, Syndromic	1	S	7
TBCK	TBC1 domain containing kinase	4	Rare Single Gene Mutation, Syndromic	1	S	3
TBL1XR1	transducin beta like 1 X-linked receptor 1	3	Rare Single Gene Mutation, Syndromic, Functional	1		31
TBR1	T-box, brain, 1	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		39
TCF20	Transcription factor 20 (AR1)	22	Rare Single Gene Mutation, Syndromic, Functional	1	S	16
TBCEL	tubulin folding cofactor E like	11	Rare Single Gene Mutation	1		3
TCF4	Transcription factor 4	18	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	62
TCF7L2	Transcription factor 7-like 2 (T-cell specific, HMG-box)	10	Rare Single Gene Mutation, Syndromic	1		9
TEK	TEKreceptortyrosine kinase	9	Rare Single Gene Mutation	1		3
TLK2	tousled-like kinase 2	17	Rare Single Gene Mutation, Syndromic	1	S	19
TM9SF4	transmembrane 9 superfamily member 4	20	Rare Single Gene Mutation	1		3
TRAF7	TNF receptor associated factor 7	16	Rare Single Gene Mutation, Syndromic	1	S	8
TLE3	TLE family member 3, transcriptional corepressor	15	Rare Single Gene Mutation	1		3
TRIM23	tripartite motif containing 23	5	Rare Single Gene Mutation	1		7
TRIO	Trio Rho guanine nucleotide exchange factor	5	Rare Single Gene Mutation, Syndromic, Functional	1		39
TRIP12	Thyroid hormone receptor interactor 12	2	Rare Single Gene Mutation, Syndromic	1	S	30
TSC1	tuberous sclerosis 1	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	30
TSC2	tuberous sclerosis 2	16	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	47
TSHZ3	teashirt zinc finger homeobox 3	19	Rare Single Gene Mutation, Functional	1		5
UBE3A	ubiquitin protein ligase E3A	15	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	39
TSHZ1	teashirt zinc finger homeobox 1	18	Rare Single Gene Mutation, Syndromic	1		5
UBAP2L	ubiquitin associated protein 2 like	1	Rare Single Gene Mutation, Syndromic	1		5
UPF3B	UPF3B, regulator of nonsense mediated mRNA decay	X	Rare Single Gene Mutation, Syndromic	1	S	17
USP9X	ubiquitin specific peptidase 9 X-linked	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	14
VEZF1	vascular endothelial zinc finger 1	17	Rare Single Gene Mutation	1		3
VPS13B	vacuolar protein sorting 13 homolog B (yeast)	8	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	26
WAC	WW domain containing adaptor with coiled-coil	10	Rare Single Gene Mutation, Syndromic	1	S	26
WDFY3	WD repeat and FYVE domain containing 3	4	Rare Single Gene Mutation, Syndromic, Functional	1		22
YY1	YY1transcription factor	14	Rare Single Gene Mutation, Syndromic, Functional	1	S	7
ZBTB20	Zinc finger and BTB domain containing 20	3	Rare Single Gene Mutation, Syndromic	1	S	29
UBR1	ubiquitin protein ligase E3 component n-recognin 1	15	Rare Single Gene Mutation	1		1
ZBTB21	zinc finger and BTB domain containing 21	21	Rare Single Gene Mutation	1		3
ZMYND8	zinc finger MYND-type containing 8	20	Rare Single Gene Mutation, Syndromic	1	S	8
ZNF292	zinc finger protein 292	6	Rare Single Gene Mutation, Syndromic	1	S	11
ZNF462	Zinc finger protein 462	9	Rare Single Gene Mutation, Syndromic	1	S	11

2 Category 2 [699 genes]

Gene Symbol	Gene Name	Chromosome	Genetic Category	Gene Score	Syndromic	reports
ABAT	4-aminobutyrate aminotransferase	16	Rare Single Gene Mutation, Genetic Association	2		7
ABCA10	ATP-binding cassette, sub-family A (ABC1), member 10	17	Rare Single Gene Mutation	2		2
ABCA13	ATP binding cassette subfamily A member 13	7	Rare Single Gene Mutation, Functional	2		10
ABCA7	ATP-binding cassette, sub-family A (ABC1), member 7	19	Rare Single Gene Mutation	2		5
ACE	angiotensin I converting enzyme	17	Rare Single Gene Mutation, Genetic Association	2		5
ACHE	Acetylcholinesterase (Yt blood group)	7	Rare Single Gene Mutation	2		7
ACTN4	actinin alpha 4	19	Rare Single Gene Mutation	2		6
ADA	adenosine deaminase	20	Rare Single Gene Mutation, Genetic Association	2		8
ADCY3	adenylate cyclase 3	2	Rare Single Gene Mutation	2		3
ADCY5	Adenylate cyclase 5	3	Rare Single Gene Mutation	2		9
ADK	adenosine kinase	10	Rare Single Gene Mutation	2		2
ADORA3	Adenosine A3 receptor	1	Rare Single Gene Mutation, Functional	2		3
ADSS2	adenylosuccinate synthase 2	1	Rare Single Gene Mutation	2		3
AGAP1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	2	Rare Single Gene Mutation	2		9
AGAP2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	12	Rare Single Gene Mutation	2		6
AGBL4	ATP/GTP binding protein-like 4	1	Rare Single Gene Mutation	2		3
AGMO	alkylglycerol monooxygenase	7	Rare Single Gene Mutation, Genetic Association	2		7
AGO1	argonaute 1, RISC catalytic component	1	Rare Single Gene Mutation	2		10
AGO2	argonaute RISC catalytic component 2	8	Rare Single Gene Mutation, Syndromic	2	S	2
AGO3	argonaute RISC catalytic component 3	1	Rare Single Gene Mutation	2		6
AGO4	argonaute RISC catalytic component 4	1	Rare Single Gene Mutation	2		4
AGTR2	angiotensin II receptor, type 2	X	Rare Single Gene Mutation	2		5
AHNAK	AHNAKnucleoprotein	11	Rare Single Gene Mutation	2		6
AKAP9	A kinase (PRKA) anchor protein 9	7	Rare Single Gene Mutation	2		6
AMPD1	Adenosine monophosphate deaminase 1	1	Rare Single Gene Mutation, Genetic Association	2		4
AMT	Aminomethyltransferase	3	Rare Single Gene Mutation	2		1
ANKRD17	ankyrin repeat domain 17	4	Rare Single Gene Mutation, Syndromic	2	S	6
ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	12	Rare Single Gene Mutation, Syndromic	2	S	4
ANXA1	Annexin A1	9	Rare Single Gene Mutation	2		2
APBA2	amyloid beta (A4) precursor protein-binding, family A, member 2	15	Rare Single Gene Mutation	2		8
APBB1	amyloid beta precursor protein binding family B member 1	11	Rare Single Gene Mutation, Functional	2		4
APH1A	APH1A gamma secretase subunit	1	Rare Single Gene Mutation	2		3
ARHGAP11B	Rho GTPase activating protein 11B	15	Rare Single Gene Mutation	2		3
ARHGAP32	Rho GTPase activating protein 32	11	Rare Single Gene Mutation, Functional	2		9
ARHGAP5	Rho GTPase activating protein 5	14	Rare Single Gene Mutation	2		6
ARHGEF10	Rho guanine nucleotide exchange factor 10	8	Rare Single Gene Mutation, Functional	2		6
ARID2	AT-rich interaction domain 2	12	Rare Single Gene Mutation, Syndromic	2	S	12
ARNT2	aryl-hydrocarbon receptor nuclear translocator 2	15	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		15
ADORA2A	adenosine A2a receptor	22	Genetic Association	2		7
ADRB2	adrenergic, beta-2-, receptor, surface	5	Genetic Association	2		10
AR	androgen receptor	X	Genetic Association	2		6
ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	2	Rare Single Gene Mutation	2		4
ASB14	ankyrin repeat and SOCS box containing 14	3	Rare Single Gene Mutation	2		4
ASMT	acetylserotonin O-methyltransferase	X,Y	Rare Single Gene Mutation, Genetic Association	2		10
ASPM	abnormal spindle microtubule assembly	1	Rare Single Gene Mutation, Syndromic, Functional	2		10
ASTN2	astrotactin 2	9	Rare Single Gene Mutation, Genetic Association	2		19
ATP10A	Probable phospholipid-transporting ATPase VA	15	Rare Single Gene Mutation, Genetic Association, Functional	2		9
ATP1A1	ATPase Na+/K+ transporting subunit alpha 1	1	Rare Single Gene Mutation, Syndromic	2	S	8
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19	Rare Single Gene Mutation, Syndromic, Functional	2	S	21
ATP2B2	ATPase, Ca++ transporting, plasma membrane 2	3	Rare Single Gene Mutation, Genetic Association	2		12
ATP6V0A2	ATPase H+ transporting V0 subunit a2	12	Rare Single Gene Mutation	2		4
AVPR1A	arginine vasopressin receptor 1A	12	Rare Single Gene Mutation, Genetic Association	2		24
AZGP1	alpha-2-glycoprotein 1, zinc-binding	7	Rare Single Gene Mutation	2		3
BBS4	Bardet-Biedl syndrome 4	15	Rare Single Gene Mutation, Syndromic	2		5
BCAS1	breast carcinoma amplified sequence 1	20	Rare Single Gene Mutation	2		5
BICRA	BRD4 interacting chromatin remodeling complex associated protein	19	Rare Single Gene Mutation, Syndromic	2	S	2
BIRC6	Baculoviral IAP repeat containing 6	2	Rare Single Gene Mutation	2		12
BRCA2	breast cancer 2, early onset	13	Rare Single Gene Mutation	2		6
BRD4	bromodomain containing 4	19	Rare Single Gene Mutation, Syndromic, Functional	2		9
BST1	bone marrow stromal cell antigen 1	4	Genetic Association, Functional	2		5
BTAF1	RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)	10	Rare Single Gene Mutation	2		8
BTRC	beta-transducin repeat containing E3 ubiquitin protein ligase	10	Rare Single Gene Mutation	2		4
C15orf62	chromosome 15 open reading frame 62	15	Rare Single Gene Mutation	2		2
C4B	complement component 4B	6	Rare Single Gene Mutation, Genetic Association, Functional	2		6
CA6	carbonic anhydrase VI	1	Rare Single Gene Mutation	2		7
CACNA1B	calcium voltage-gated channel subunit alpha1 B	9	Rare Single Gene Mutation, Syndromic, Genetic Association	2		13
AVPR1B	arginine vasopressin receptor 1B	1	Genetic Association, Functional	2		8
BICDL1	BICD family like cargo adaptor 1	12	Genetic Association	2		2
CACNA1D	calcium channel, voltage-dependent, L type, alpha 1D	3	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		26
CACNA1F	calcium channel, voltage-dependent, alpha 1F	X	Rare Single Gene Mutation, Genetic Association	2		9
CACNA1G	calcium channel, voltage-dependent, T type, alpha 1G subunit	17	Rare Single Gene Mutation, Syndromic, Genetic Association	2		24
CACNA1H	calcium channel, voltage-dependent, alpha 1H subunit	16	Rare Single Gene Mutation	2		32
CACNA1I	Calcium channel, voltage-dependent, T type, alpha 1I subunit	22	Rare Single Gene Mutation, Genetic Association	2		10
CACNA2D1	calcium voltage-gated channel auxiliary subunit alpha2delta 1	7	Rare Single Gene Mutation, Syndromic	2		8
CACNB2	Calcium channel, voltage-dependent, beta 2 subunit	10	Rare Single Gene Mutation, Genetic Association, Functional	2		11
CADM1	cell adhesion molecule 1	11	Rare Single Gene Mutation	2		10
CADM2	Cell adhesion molecule 2	3	Rare Single Gene Mutation, Genetic Association	2		6
CADPS	calcium dependent secretion activator	3	Rare Single Gene Mutation, Genetic Association	2		5
CADPS2	Ca2+-dependent activator protein for secretion 2	7	Rare Single Gene Mutation, Functional	2		12
CAMK2A	calcium/calmodulin dependent protein kinase II alpha	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2	S	11
CAMK4	calcium/calmodulin dependent protein kinase IV	5	Rare Single Gene Mutation, Genetic Association	2		5
CAPN12	Calpain 12	19	Rare Single Gene Mutation	2		6
CARD11	caspase recruitment domain family member 11	7	Rare Single Gene Mutation	2		2
CASKIN1	CASK interacting protein 1	16	Rare Single Gene Mutation, Functional	2		7
CC2D1A	Coiled-coil and C2 domain containing 1A	19	Rare Single Gene Mutation, Functional	2		15
CCDC88C	Coiled-coil domain containing 88C	14	Rare Single Gene Mutation	2		8
CCDC91	coiled-coil domain containing 91	12	Rare Single Gene Mutation	2		5
CCIN	calicin	9	Rare Single Gene Mutation	2		2
CCNG1	cyclin G1	5	Rare Single Gene Mutation	2		1
CCSER1	coiled-coil serine rich protein 1	4	Rare Single Gene Mutation	2		4
CCT4	Chaperonin containing TCP1, subunit 4 (delta)	2	Rare Single Gene Mutation	2		3
CD276	CD276molecule	15	Rare Single Gene Mutation	2		3
CD38	CD38 molecule	4	Rare Single Gene Mutation, Genetic Association, Functional	2		10
CD99L2	CD99 molecule like 2	X	Genetic Association	2		1
CDC42BPB	CDC42 binding protein kinase beta (DMPK-like)	14	Rare Single Gene Mutation, Syndromic	2		11
CDH10	cadherin 10, type 2 (T2-cadherin)	5	Rare Single Gene Mutation, Genetic Association	2		11
CDH11	cadherin 11	16	Rare Single Gene Mutation, Syndromic, Functional	2		8
CDH13	cadherin 13	16	Rare Single Gene Mutation	2		6
CDH22	cadherin-like 22	20	Genetic Association	2		4
CDH8	cadherin 8, type 2	16	Rare Single Gene Mutation	2		11
CDH9	cadherin 9, type 2 (T1-cadherin)	5	Rare Single Gene Mutation, Genetic Association	2		7
CDK16	cyclin dependent kinase 16	X	Rare Single Gene Mutation	2		3
CECR2	CECR2, histone acetyl-lysine reader	22	Rare Single Gene Mutation	2		3
CELF2	CUGBP Elav-like family member 2	10	Rare Single Gene Mutation, Syndromic	2	S	4
CELF6	CUGBP, Elav-like family member 6	15	Rare Single Gene Mutation, Genetic Association	2		5
CEP135	centrosomal protein 135	4	Rare Single Gene Mutation, Syndromic	2		6
CEP290	Centrosomal protein 290kDa	12	Rare Single Gene Mutation, Syndromic	2	S	11
CEP41	testis specific, 14	7	Rare Single Gene Mutation, Syndromic	2		6
CGNL1	Cingulin-like 1	15	Rare Single Gene Mutation	2		6
CHD1	chromodomain helicase DNA binding protein 1	5	Rare Single Gene Mutation, Syndromic	2	S	7
CHMP1A	charged multivesicular body protein 1A	16	Rare Single Gene Mutation, Syndromic	2		5
CHRM3	cholinergic receptor muscarinic 3	1	Rare Single Gene Mutation, Genetic Association	2		6
CHRNA7	cholinergic receptor, nicotinic, alpha 7	15	Rare Single Gene Mutation	2		16
CHRNB3	cholinergic receptor nicotinic beta 3 subunit	8	Rare Single Gene Mutation	2		3
CIB2	Calcium and integrin binding family member 2	15	Rare Single Gene Mutation	2		2
CLASP1	cytoplasmic linker associated protein 1	2	Rare Single Gene Mutation	2		4
CLCN4	chloride voltage-gated channel 4	X	Rare Single Gene Mutation, Syndromic	2	S	10
CLN8	Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	8	Rare Single Gene Mutation, Syndromic	2		5
CLTCL1	clathrin, heavy chain-like 1	22	Rare Single Gene Mutation	2		7
CMIP	c-Maf inducing protein	16	Rare Single Gene Mutation, Genetic Association	2		6
CMPK2	cytidine/uridine monophosphate kinase 2	2	Rare Single Gene Mutation	2		4
CNGB3	cyclic nucleotide gated channel beta 3	8	Rare Single Gene Mutation	2		5
CNKSR2	connector enhancer of kinase suppressor of Ras 2	X	Rare Single Gene Mutation, Syndromic, Functional	2	S	12
CNOT1	CCR4-NOT transcription complex subunit 1	16	Rare Single Gene Mutation, Syndromic	2	S	8
CNR1	cannabinoid receptor 1 (brain)	6	Rare Single Gene Mutation, Genetic Association	2		8
CNTN3	contactin 3	3	Rare Single Gene Mutation	2		6
CNTN4	contactin 4	3	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		26
CNTN5	Contactin 5	11	Rare Single Gene Mutation, Genetic Association	2		11
CNTN6	Contactin 6	3	Rare Single Gene Mutation, Genetic Association	2		16
CNTNAP2	contactin associated protein-like 2	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2	S	84
CNTNAP3	contactin associated protein-like 3	9	Rare Single Gene Mutation, Functional	2		7
CNTNAP4	Contactin associated protein-like 4	16	Rare Single Gene Mutation, Functional	2		14
CNTNAP5	contactin associated protein-like 5	2	Rare Single Gene Mutation, Genetic Association	2		14
COL28A1	collagen type XXVIII alpha 1 chain	7	Rare Single Gene Mutation	2		4
CPT2	carnitine palmitoyltransferase 2	1	Rare Single Gene Mutation	2		3
CPZ	carboxypeptidase Z	4	Rare Single Gene Mutation	2		4
CPEB4	cytoplasmic polyadenylation element binding protein 4	5	Functional	2		1
CSMD1	CUB and Sushi multiple domains 1	8	Rare Single Gene Mutation, Genetic Association	2		16
CSNK1E	casein kinase 1 epsilon	22	Rare Single Gene Mutation, Functional	2		7
CTNNA3	catenin (cadherin-associated protein), alpha 3	10	Rare Single Gene Mutation, Genetic Association	2		17
CTNND2	Catenin (cadherin-associated protein), delta 2	5	Rare Single Gene Mutation, Syndromic, Functional	2		11
CTTNBP2	cortactin binding protein 2	7	Rare Single Gene Mutation, Syndromic, Functional	2		14
CUL7	Cullin 7	6	Rare Single Gene Mutation	2		8
CUX1	cut like homeobox 1	7	Rare Single Gene Mutation, Functional	2		11
CUX2	cut like homeobox 2	12	Rare Single Gene Mutation, Syndromic	2	S	12
CX3CR1	Chemokine (C-X3-C motif) receptor 1	3	Rare Single Gene Mutation, Functional	2		3
CYFIP1	cytoplasmic FMR1 interacting protein 1	15	Rare Single Gene Mutation, Genetic Association, Functional	2		19
CYLC2	cylicin, basic protein of sperm head cytoskeleton 2	9	Rare Single Gene Mutation	2		3
DAGLA	diacylglycerol lipase alpha	11	Rare Single Gene Mutation, Functional	2		7
DAPP1	Dual adaptor of phosphotyrosine and 3-phosphoinositides	4	Rare Single Gene Mutation	2		3
DDC	dopa decarboxylase	7	Rare Single Gene Mutation, Genetic Association	2		5
DDHD2	DDHD domain containing 2	8	Rare Single Gene Mutation, Genetic Association, Functional	2		5
DDX53	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	X	Rare Single Gene Mutation	2		4
DENR	density-regulated protein	12	Rare Single Gene Mutation, Functional	2		4
DIP2C	disco interacting protein 2 homolog C	10	Rare Single Gene Mutation	2		5
DIPK2A	divergent protein kinase domain 2A	3	Rare Single Gene Mutation	2		3
DISC1	disrupted in schizophrenia 1	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2		35
DIXDC1	DIX domain containing 1	11	Rare Single Gene Mutation, Functional	2		5
DLG1	discs large MAGUK scaffold protein 1	3	Rare Single Gene Mutation	2		6
DLG2	discs large MAGUK scaffold protein 2	11	Rare Single Gene Mutation, Functional	2		11
DLGAP1	DLG associated protein 1	18	Rare Single Gene Mutation, Functional	2		12
DLGAP2	discs, large (Drosophila) homolog-associated protein 2	8	Rare Single Gene Mutation	2		17
DLGAP3	DLG associated protein 3	1	Rare Single Gene Mutation, Genetic Association, Functional	2		11
DLL1	delta like canonical Notch ligand 1	6	Rare Single Gene Mutation, Syndromic	2	S	4
DLX3	distal-less homeobox 3	17	Rare Single Gene Mutation	2		4
DLX6	distal-less homeobox 6	7	Rare Single Gene Mutation	2		10
DMWD	DM1 locus, WD repeat containing	19	Rare Single Gene Mutation	2		3
DMXL2	Dmx-like 2	15	Rare Single Gene Mutation	2		8
DNAH10	Dynein, axonemal, heavy chain 10	12	Rare Single Gene Mutation	2		9
DNAH17	dynein axonemal heavy chain 17	17	Rare Single Gene Mutation	2		8
DNAH3	dynein axonemal heavy chain 3	16	Rare Single Gene Mutation	2		7
DNER	Delta/notch-like EGF repeat containing	2	Rare Single Gene Mutation, Genetic Association	2		3
DOCK1	Dedicator of cytokinesis 1	10	Rare Single Gene Mutation	2		3
DOCK4	Dedicator of cytokinesis 4	7	Rare Single Gene Mutation, Genetic Association, Functional	2		11
DOCK8	dedicator of cytokinesis 8	9	Rare Single Gene Mutation	2		12
DPP10	Dipeptidyl-peptidase 10	2	Rare Single Gene Mutation	2		12
DPP3	dipeptidyl peptidase 3	11	Rare Single Gene Mutation	2		4
DPP4	Dipeptidyl-peptidase 4	2	Rare Single Gene Mutation, Genetic Association	2		6
DPP6	dipeptidyl-peptidase 6	7	Rare Single Gene Mutation, Genetic Association, Functional	2		27
DPYD	dihydropyrimidine dehydrogenase	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2		14
DPYSL3	dihydropyrimidinase like 3	5	Rare Single Gene Mutation	2		3
DRD2	Dopamine receptor D2	11	Rare Single Gene Mutation, Genetic Association	2		7
DRD3	dopamine receptor D3	3	Rare Single Gene Mutation, Genetic Association	2		9
DST	Dystonin	6	Rare Single Gene Mutation	2		10
DUSP15	dual specificity phosphatase 15	20	Rare Single Gene Mutation, Genetic Association	2		6
DVL3	Dishevelled segment polarity protein 3	3	Rare Single Gene Mutation, Functional	2		5
DYDC1	DPY30 domain containing 1	10	Rare Single Gene Mutation	2		2
DYDC2	DPY30 domain containing 2	10		2		1
CYP11B1	cytochrome P450, family 11, subfamily B, polypeptide 1	8	Syndromic	2		4
DCC	DCCnetrin 1 receptor	18	Genetic Association	2		3
DLX2	distal-less homeobox 2	2	Genetic Association	2		11
DRD1	Dopamine receptor D1	5	Genetic Association, Functional	2		4
ECPAS	Ecm29 proteasome adaptor and scaffold	9	Rare Single Gene Mutation, Functional	2		4
EFR3A	EFR3 homolog A (S. cerevisiae)	8	Rare Single Gene Mutation	2		7
EGR3	early growth response 3	8	Rare Single Gene Mutation	2		3
EIF4E	eukaryotic translation initiation factor 4E	4	Rare Single Gene Mutation, Genetic Association	2		13
ELAVL2	ELAV like neuron-specific RNA binding protein 2	9	Rare Single Gene Mutation, Genetic Association, Functional	2		7
ELOVL2	ELOVL fatty acid elongase 2	6	Genetic Association	2		1
ELP2	elongator acetyltransferase complex subunit 2	18	Syndromic	2	S	6
ELP4	Elongator acetyltransferase complex subunit 4	11	Rare Single Gene Mutation, Genetic Association	2		7
EMSY	EMSY, BRCA2 interacting transcriptional repressor	11	Rare Single Gene Mutation, Functional	2		5
EN2	engrailed homolog 2	7	Rare Single Gene Mutation, Genetic Association, Functional	2		25
EP400	E1A binding protein p400	12	Rare Single Gene Mutation	2		8
EPC2	Enhancer of polycomb homolog 2 (Drosophila)	2	Rare Single Gene Mutation	2		6
EPHA1	EPH receptor A1	7	Rare Single Gene Mutation	2		7
EPHB2	EPH receptor B2	1	Rare Single Gene Mutation	2		8
EPPK1	epiplakin 1	8	Rare Single Gene Mutation	2		7
ERBIN	erbb2 interacting protein	5	Rare Single Gene Mutation	2		8
ERMN	ermin	2	Rare Single Gene Mutation	2		1
ESR2	estrogen receptor 2 (ER beta)	14	Rare Single Gene Mutation, Syndromic, Genetic Association	2		9
ESRRB	estrogen-related receptor beta	14	Rare Single Gene Mutation, Genetic Association	2		9
ETFB	Electron-transfer-flavoprotein, beta polypeptide	19	Rare Single Gene Mutation	2		5
EXOC3	exocyst complex component 3	5	Rare Single Gene Mutation	2		3
EXOC5	exocyst complex component 5	14	Rare Single Gene Mutation	2		2
EXOC6	exocyst complex component 6	10	Rare Single Gene Mutation	2		3
EXOC6B	exocyst complex component 6B	2	Rare Single Gene Mutation	2		5
EXT1	Exostosin 1	8	Rare Single Gene Mutation, Genetic Association	2		7
FABP5	fatty acid binding protein 5 (psoriasis-associated)	8	Rare Single Gene Mutation, Functional	2		8
FAM47A	family with sequence similarity 47 member A	X	Rare Single Gene Mutation	2		1
FAM98C	family with sequence similarity 98 member C	19	Rare Single Gene Mutation	2		2
FAN1	FANCD2/FANCI-associated nuclease 1	15	Rare Single Gene Mutation, Genetic Association, Functional	2		3
FAT1	FAT atypical cadherin 1	4	Rare Single Gene Mutation, Functional	2		11
FBN1	Fibrillin 1	15	Rare Single Gene Mutation	2		13
FBXO11	F-box protein 11	2	Rare Single Gene Mutation, Syndromic	2	S	10
FBXO33	F-box protein 33	14	Rare Single Gene Mutation, Genetic Association	2		4
FBXO40	F-box protein 40	3	Rare Single Gene Mutation, Genetic Association	2		5
FCRL6	Fc receptor like 6	1	Rare Single Gene Mutation	2		4
FEZF2	FEZ family zinc finger 2	3	Rare Single Gene Mutation, Genetic Association	2		9
FGA	Fibrinogen alpha chain	4	Rare Single Gene Mutation, Genetic Association	2		4
FHIT	fragile histidine triad gene	3	Rare Single Gene Mutation, Genetic Association	2		12
FRG1	FSHD region gene 1	4	Rare Single Gene Mutation	2		2
FRK	fyn-related kinase	6	Rare Single Gene Mutation, Genetic Association	2		3
GABBR2	gamma-aminobutyric acid type B receptor subunit 2	9	Rare Single Gene Mutation, Syndromic, Functional	2	S	14
GABRA4	gamma-aminobutyric acid (GABA) A receptor, alpha 4	4	Rare Single Gene Mutation, Genetic Association, Functional	2		9
GABRG3	gamma-aminobutyric acid type A receptor gamma3 subunit	15	Rare Single Gene Mutation, Genetic Association	2		11
GALNT10	polypeptide N-acetylgalactosaminyltransferase 10	5	Rare Single Gene Mutation, Genetic Association	2		7
GALNT13	polypeptide N-acetylgalactosaminyltransferase 13	2	Rare Single Gene Mutation	2		4
GALNT14	polypeptide N-acetylgalactosaminyltransferase 14	2	Rare Single Gene Mutation, Genetic Association	2		7
GALNT8	polypeptide N-acetylgalactosaminyltransferase 8	12	Rare Single Gene Mutation	2		2
GBE1	1,4-alpha-glucan branching enzyme 1	3	Rare Single Gene Mutation	2		4
GDA	guanine deaminase	9	Rare Single Gene Mutation, Genetic Association	2		3
GGNBP2	gametogenetin binding protein 2	17	Rare Single Gene Mutation	2		3
GLIS1	GLIS family zinc finger 1	1	Rare Single Gene Mutation, Genetic Association	2		3
GLO1	glyoxalase I	6	Rare Single Gene Mutation, Genetic Association	2		10
GLRA2	glycine receptor, alpha 2	X	Rare Single Gene Mutation, Functional	2		17
GNAS	GNAS complex locus	20	Rare Single Gene Mutation	2		9
GNB1L	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	22	Rare Single Gene Mutation, Genetic Association	2		3
GPC4	glypican 4	X	Rare Single Gene Mutation	2		2
GPC6	glypican 6	13	Rare Single Gene Mutation, Genetic Association	2		8
GPD2	glycerol-3-phosphate dehydrogenase 2	2	Rare Single Gene Mutation, Genetic Association	2		4
GPHN	Gephyrin	14	Rare Single Gene Mutation	2		10
GPR37	G protein-coupled receptor 37	7	Rare Single Gene Mutation	2		3
GPR85	G protein-coupled receptor 85	7	Rare Single Gene Mutation, Genetic Association	2		5
GRIA1	glutamate ionotropic receptor AMPA type subunit 1	5	Rare Single Gene Mutation, Syndromic	2		11
GRID1	Glutamate receptor, ionotropic, delta 1	10	Rare Single Gene Mutation, Genetic Association	2		7
GRID2	glutamate receptor, ionotropic, delta 2	4	Rare Single Gene Mutation, Syndromic, Genetic Association	2		11
GRID2IP	Grid2 interacting protein	7	Rare Single Gene Mutation	2		5
GRIK2	glutamate ionotropic receptor kainate type subunit 2	6	Rare Single Gene Mutation, Genetic Association	2		22
GRIK3	glutamate ionotropic receptor kainate type subunit 3	1	Rare Single Gene Mutation, Genetic Association	2		7
GRIK4	Glutamate receptor, ionotropic, kainate 4	11	Rare Single Gene Mutation, Functional	2		5
GRIK5	Glutamate receptor, ionotropic, kainate 5	19	Rare Single Gene Mutation	2		10
ERG	ERG, ETS transcription factor	21	Genetic Association	2		1
FGFR1	fibroblast growth factor receptor 1	8	Genetic Association	2		1
G3BP2	G3BP stress granule assembly factor 2	4	Rare Single Gene Mutation	2		6
GAS2	Growth arrest-specific 2	11	Genetic Association	2		1
GPX1	glutathione peroxidase 1	3	Genetic Association	2		5
GRIP1	glutamate receptor interacting protein 1	12	Rare Single Gene Mutation	2		14
GRK4	G protein-coupled receptor kinase 4	4	Rare Single Gene Mutation, Functional	2		6
GRM5	glutamate metabotropic receptor 5	11	Rare Single Gene Mutation, Genetic Association, Functional	2		10
GRM7	Glutamate receptor, metabotropic 7	3	Rare Single Gene Mutation, Genetic Association, Functional	2		17
GTF2I	general transcription factor IIi	7	Rare Single Gene Mutation, Genetic Association	2		6
GUCY1A2	guanylate cyclase 1 soluble subunit alpha 2	11	Rare Single Gene Mutation, Genetic Association	2		3
H2BC11	H2B clustered histone 11	6	Rare Single Gene Mutation	2		3
HDAC4	histone deacetylase 4	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	17
HECW2	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	2	Rare Single Gene Mutation, Syndromic	2		16
HERC1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	15	Rare Single Gene Mutation, Syndromic, Functional	2	S	12
HIVEP3	human immunodeficiency virus type I enhancer binding protein 3	1	Rare Single Gene Mutation, Genetic Association	2		8
HLA-DPB1	major histocompatibility complex, class II, DP beta 1	6	Rare Single Gene Mutation, Genetic Association	2		2
HNRNPD	heterogeneous nuclear ribonucleoprotein D	4	Rare Single Gene Mutation, Syndromic	2	S	5
HNRNPF	heterogeneous nuclear ribonucleoprotein F	10	Rare Single Gene Mutation	2		4
HNRNPK	heterogeneous nuclear ribonucleoprotein K	9	Rare Single Gene Mutation, Syndromic	2	S	11
HNRNPR	heterogeneous nuclear ribonucleoprotein R	1	Rare Single Gene Mutation, Syndromic	2	S	6
HNRNPUL2	heterogeneous nuclear ribonucleoprotein U like 2	11	Rare Single Gene Mutation, Syndromic	2	S	4
HOMER1	Homer homolog 1 (Drosophila)	5	Rare Single Gene Mutation, Functional	2		6
GSTM1	glutathione S-transferase M1	1	Genetic Association	2		3
HLA-A	major histocompatibility complex, class I, A	6	Genetic Association	2		10
HLA-B	Major histocompatibility complex, class I, B	6	Genetic Association	2		5
HLA-DRB1	major histocompatibility complex, class II, DR beta 1	6	Genetic Association	2		11
HLA-G	major histocompatibility complex, class I, G	6	Genetic Association	2		4
HMGN1	high mobility group nucleosome binding domain 1	21	Genetic Association	2		1
HS3ST5	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	6	Genetic Association	2		7
HSD11B1	hydroxysteroid (11-beta) dehydrogenase 1	1	Rare Single Gene Mutation, Syndromic	2		9
HTR1B	5-hydroxytryptamine (serotonin) receptor 1B	6	Rare Single Gene Mutation, Genetic Association	2		6
HTR3A	5-hydroxytryptamine (serotonin) receptor 3A	11	Rare Single Gene Mutation, Genetic Association, Functional	2		8
HTR3C	5-hydroxytryptamine (serotonin) receptor 3, family member C	3	Rare Single Gene Mutation, Genetic Association	2		7
HYDIN	HYDIN, axonemal central pair apparatus protein	16	Rare Single Gene Mutation, Genetic Association	2		4
ICA1	islet cell autoantigen 1	7	Rare Single Gene Mutation	2		10
IL1R2	interleukin 1 receptor, type II	2	Rare Single Gene Mutation	2		7
IL1RAPL1	interleukin 1 receptor accessory protein-like 1	X	Rare Single Gene Mutation	2		25
IL1RAPL2	interleukin 1 receptor accessory protein-like 2	X	Rare Single Gene Mutation, Genetic Association	2		2
ILF2	Interleukin enhancer binding factor 2	1	Rare Single Gene Mutation	2		6
IMMP2L	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	7	Rare Single Gene Mutation, Genetic Association, Functional	2		16
INPP1	inositol polyphosphate-1-phosphatase	2	Rare Single Gene Mutation, Genetic Association	2		4
INTS6	Integrator complex subunit 6	13	Rare Single Gene Mutation	2		5
IQGAP3	IQ motif containing GTPase activating protein 3	1	Rare Single Gene Mutation	2		5
ITGB3	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	17	Rare Single Gene Mutation, Genetic Association, Functional	2		20
ITPR1	inositol 1,4,5-trisphosphate receptor type 1	3	Rare Single Gene Mutation	2		14
ITSN1	intersectin 1	21	Rare Single Gene Mutation, Syndromic	2		7
JARID2	jumonji and AT-rich interaction domain containing 2	6	Rare Single Gene Mutation, Syndromic, Genetic Association	2		17
JMJD1C	jumonji domain containing 1C	10	Rare Single Gene Mutation	2		10
KANK1	KN motif and ankyrin repeat domains 1	9	Rare Single Gene Mutation	2		12
KAT2B	K(lysine) acetyltransferase 2B	3	Rare Single Gene Mutation, Functional	2		8
KAT6A	K(lysine) acetyltransferase 6A	8	Rare Single Gene Mutation, Syndromic, Functional	2	S	25
KATNAL1	katanin catalytic subunit A1 like 1	13	Rare Single Gene Mutation, Functional	2		3
KCNC1	potassium voltage-gated channel subfamily C member 1	11	Rare Single Gene Mutation, Functional	2		7
KCND2	potassium voltage-gated channel subfamily D member 2	7	Rare Single Gene Mutation, Genetic Association	2		8
KCND3	potassium voltage-gated channel subfamily D member 3	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2		13
KCNJ10	potassium voltage-gated channel subfamily J member 10	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2		12
KCNJ15	potassium voltage-gated channel subfamily J member 15	21	Rare Single Gene Mutation	2		3
KCNK7	potassium two pore domain channel subfamily K member 7	11	Rare Single Gene Mutation	2		2
KCNMA1	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	10	Rare Single Gene Mutation, Syndromic	2		29
KCNQ2	potassium voltage-gated channel subfamily Q member 2	20	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		43
KCNS3	potassium voltage-gated channel modifier subfamily S member 3	2	Rare Single Gene Mutation	2		5
KCTD13	Potassium channel tetramerisation domain containing 13	16	Rare Single Gene Mutation, Functional	2		8
KDM1B	lysine demethylase 1B	6	Rare Single Gene Mutation	2		3
KDM4B	lysine demethylase 4B	19	Rare Single Gene Mutation, Syndromic, Functional	2		6
KDM4C	lysine demethylase 4C	9	Rare Single Gene Mutation	2		4
KDM5A	lysine demethylase 5A	12	Rare Single Gene Mutation	2		3
KDM6A	lysine demethylase 6A	X	Rare Single Gene Mutation, Syndromic	2		11
KHDRBS2	KH domain containing, RNA binding, signal transduction associated 2	6	Rare Single Gene Mutation	2		4
KIAA1586	KIAA1586	6	Rare Single Gene Mutation	2		5
KIF13B	Kinesin family member 13B	8	Rare Single Gene Mutation	2		4
KIF14	kinesin family member 14	1	Rare Single Gene Mutation, Syndromic	2		6
KIF1A	kinesin family member 1A	2	Rare Single Gene Mutation, Syndromic	2	S	11
KIF5C	Kinesin family member 5C	2	Rare Single Gene Mutation, Syndromic, Functional	2	S	12
KIRREL3	Kin of IRRE like 3 (Drosophila)	11	Rare Single Gene Mutation	2		18
KLF16	Kruppel like factor 16	19	Rare Single Gene Mutation	2		1
KRR1	KRR1, small subunit (SSU) processome component, homolog (yeast)	12	Rare Single Gene Mutation, Genetic Association	2		2
KRT26	keratin 26	17	Rare Single Gene Mutation	2		3
LAMA1	Laminin, alpha 1	18	Rare Single Gene Mutation, Genetic Association	2		10
LAMB1	laminin, beta 1	7	Rare Single Gene Mutation, Genetic Association	2		8
LEMD3	LEM domain containing 3	12	Rare Single Gene Mutation	2		3
LEO1	LEO1 homolog, Paf1/RNA polymerase II complex component	15	Rare Single Gene Mutation	2		4
LEP	Leptin	7	Rare Single Gene Mutation	2		1
LILRB2	leukocyte immunoglobulin like receptor B2	19	Rare Single Gene Mutation	2		3
LIN7B	lin-7 homolog B, crumbs cell polarity complex component	19	Rare Single Gene Mutation	2		3
LMX1B	LIM homeobox transcription factor 1 beta	9	Genetic Association	2		1
LRBA	LPS-responsive vesicle trafficking, beach and anchor containing	4	Rare Single Gene Mutation	2		8
LRFN2	leucine rich repeat and fibronectin type III domain containing 2	6	Rare Single Gene Mutation, Genetic Association, Functional	2		5
LRFN5	leucine rich repeat and fibronectin type III domain containing 5	14	Rare Single Gene Mutation, Genetic Association, Functional	2		7
LRP1	LDL receptor related protein 1	12	Rare Single Gene Mutation	2		7
LRP2	LDL receptor related protein 2	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2		18
LRRC1	leucine rich repeat containing 1	6	Rare Single Gene Mutation, Genetic Association	2		6
LRRC4	leucine rich repeat containing 4	7	Rare Single Gene Mutation, Functional	2		5
LZTS2	leucine zipper, putative tumor suppressor 2	10	Genetic Association	2		4
MACROD2	MACRO domain containing 2	20	Rare Single Gene Mutation, Genetic Association	2		22
MAOA	monoamine oxidase A	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		18
MAOB	monoamine oxidase B	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		6
MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	2	Rare Single Gene Mutation, Syndromic	2		2
MAPK3	mitogen-activated protein kinase 3	16	Rare Single Gene Mutation, Functional	2		6
MAPT-AS1	MAPT antisense RNA 1	17	Genetic Association	2		1
MARK1	microtubule affinity regulating kinase 1	1	Rare Single Gene Mutation, Genetic Association	2		11
MARK2	microtubule affinity regulating kinase 2	11	Rare Single Gene Mutation	2		4
MBD1	methyl-CpG binding domain protein 1	18	Rare Single Gene Mutation	2		8
MBD3	methyl-CpG binding domain protein 3	19	Rare Single Gene Mutation	2		4
MBD4	methyl-CpG binding domain protein 4	3	Rare Single Gene Mutation	2		7
MBD6	Methyl-CpG binding domain protein 6	12	Rare Single Gene Mutation	2		3
MCM4	minichromosome maintenance complex component 4	8	Rare Single Gene Mutation	2		3
MCM6	minichromosome maintenance complex component 6	2	Rare Single Gene Mutation	2		3
MCPH1	microcephalin 1	8	Rare Single Gene Mutation	2		18
MDGA2	MAM domain containing glycosylphosphatidylinositol anchor 2	14	Rare Single Gene Mutation, Genetic Association	2		9
MED12L	mediator complex subunit 12L	3	Rare Single Gene Mutation, Syndromic	2	S	5
MED23	mediator complex subunit 23	6	Rare Single Gene Mutation	2		2
MEGF10	multiple EGF like domains 10	5	Rare Single Gene Mutation, Genetic Association	2		8
MEGF11	multiple EGF like domains 11	15	Rare Single Gene Mutation	2		6
MEMO1	mediator of cell motility 1	2	Rare Single Gene Mutation, Functional	2		2
MET	met proto-oncogene (hepatocyte growth factor receptor)	7	Rare Single Gene Mutation, Genetic Association, Functional	2		40
METTL26	methyltransferase like 26	16	Rare Single Gene Mutation	2		2
MFRP	Membrane frizzled-related protein	11	Rare Single Gene Mutation	2		7
MIB1	Mindbomb E3 ubiquitin protein ligase 1	18	Rare Single Gene Mutation	2		9
MIR137	microRNA 137	1	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		10
MLANA	melan-A	9	Rare Single Gene Mutation	2		3
MRTFB	myocardin related transcription factor B	16	Rare Single Gene Mutation, Genetic Association	2		11
MSANTD2	Myb/SANT DNA binding domain containing 2	11	Rare Single Gene Mutation	2		2
MSR1	macrophage scavenger receptor 1	8	Rare Single Gene Mutation	2		5
MTF1	metal-regulatory transcription factor 1	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2		6
MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2		20
MUC12	mucin 12, cell surface associated	7	Rare Single Gene Mutation	2		3
MUC4	mucin 4, cell surface associated	3	Rare Single Gene Mutation	2		8
MYH10	myosin heavy chain 10	17	Rare Single Gene Mutation	2		6
MYH4	Myosin, heavy chain 4, skeletal muscle	17	Rare Single Gene Mutation	2		6
MYH9	myosin heavy chain 9	22	Rare Single Gene Mutation	2		7
MYO16	myosin XVI	13	Rare Single Gene Mutation, Genetic Association	2		9
MYO1E	myosin IE	15	Rare Single Gene Mutation	2		6
MYO5A	myosin VA	15	Rare Single Gene Mutation, Genetic Association	2		6
MYO5C	myosin VC	15	Rare Single Gene Mutation	2		4
MYO9B	Myosin IXB	19	Rare Single Gene Mutation	2		5
NAALADL2	N-acetylated alpha-linked acidic dipeptidase-like 2	3	Rare Single Gene Mutation, Genetic Association	2		3
NAV2	neuron navigator 2	11	Rare Single Gene Mutation, Syndromic	2		12
NAV3	neuron navigator 3	12	Rare Single Gene Mutation	2		2
NCKAP5	NCK-associated protein 5	2	Rare Single Gene Mutation	2		3
MNT	MAX network transcriptional repressor	17	Genetic Association	2		1
NCOR1	nuclear receptor corepressor 1	17	Rare Single Gene Mutation, Functional	2		9
NDUFA5	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa	7	Genetic Association	2		3
NEGR1	neuronal growth regulator 1	1	Rare Single Gene Mutation, Genetic Association, Functional	2		6
NEO1	Neogenin 1	15	Rare Single Gene Mutation	2		2
MSNP1AS	Moesinpseudogene 1, antisense	5	Genetic Association, Functional	2		13
NFE2L3	nuclear factor, erythroid 2 like 3	7	Rare Single Gene Mutation	2		4
NFIA	nuclear factor I/A	1	Rare Single Gene Mutation	2		15
NFIB	nuclear factor I B	9	Rare Single Gene Mutation, Syndromic	2	S	5
NINL	Ninein-like	20	Rare Single Gene Mutation	2		8
NIPA1	non imprinted in Prader-Willi/Angelman syndrome 1	15	Rare Single Gene Mutation	2		6
NIPA2	non imprinted in Prader-Willi/Angelman syndrome 2	15	Rare Single Gene Mutation	2		3
NLGN1	neuroligin 1	3	Rare Single Gene Mutation, Genetic Association	2		20
NLGN4Y	neuroligin 4, Y-linked	Y	Rare Single Gene Mutation, Genetic Association, Functional	2		6
NR1D1	nuclear receptor subfamily 1 group D member 1	17	Rare Single Gene Mutation	2		4
NR2F1	nuclear receptor subfamily 2 group F member 1	5	Rare Single Gene Mutation, Syndromic, Functional	2	S	22
NRCAM	neuronal cell adhesion molecule	7	Rare Single Gene Mutation, Genetic Association	2		6
NRP2	neuropilin 2	2	Rare Single Gene Mutation, Genetic Association	2		10
NSD2	nuclear receptor binding SET domain protein 2	4	Rare Single Gene Mutation, Syndromic	2	S	12
NSMCE3	NSE3 homolog, SMC5-SMC6 complex component	15	Rare Single Gene Mutation, Functional	2		4
NTNG1	netrin G1	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	8
NTRK1	neurotrophic tyrosine kinase, receptor, type 1	1	Rare Single Gene Mutation, Syndromic	2		9
NPAS2	neuronal PAS domain protein 2	2	Genetic Association	2		4
NTRK3	neurotrophic tyrosine kinase, receptor, type 3	15	Rare Single Gene Mutation, Syndromic, Genetic Association	2		15
NUAK1	NUAK family, SNF1-like kinase, 1	12	Rare Single Gene Mutation, Functional	2		6
NUDCD2	NudC domain containing 2	5	Rare Single Gene Mutation	2		4
NUP133	nucleoporin 133kDa	1	Rare Single Gene Mutation	2		5
NXPH1	neurexophilin 1	7	Rare Single Gene Mutation	2		6
ODF3L2	outer dense fiber of sperm tails 3-like 2	19	Rare Single Gene Mutation	2		2
OFD1	OFD1, centriole and centriolar satellite protein	X	Rare Single Gene Mutation	2		4
OPHN1	oligophrenin 1	X	Rare Single Gene Mutation, Syndromic	2		16
OR1C1	olfactory receptor, family 1, subfamily C, member 1	1	Rare Single Gene Mutation	2		4
OR2M4	Olfactory receptor, family 2, subfamily M, member 4	1	Genetic Association	2		1
OR2T10	olfactory receptor family 2 subfamily T member 10	1	Rare Single Gene Mutation	2		3
OR52M1	Olfactory receptor, family 52, subfamily M, member 1	11	Rare Single Gene Mutation	2		3
OTUD7A	OTU deubiquitinase 7A	15	Rare Single Gene Mutation, Functional	2		6
OTX1	orthodenticle homeobox 1	2	Genetic Association	2		3
OXT	oxytocin/neurophysin I prepropeptide	20	Rare Single Gene Mutation, Genetic Association	2		5
OXTR	oxytocin receptor	3	Rare Single Gene Mutation, Genetic Association, Functional	2		50
P2RX5	Purinergic receptor P2X, ligand gated ion channel, 5	17	Rare Single Gene Mutation	2		4
P4HA2	Prolyl 4-hydroxylase, alpha polypeptide II	5	Rare Single Gene Mutation	2		4
PAFAH1B2	platelet activating factor acetylhydrolase 1b catalytic subunit 2	11	Rare Single Gene Mutation	2		4
PAK2	p21 (RAC1) activated kinase 2	3	Rare Single Gene Mutation, Syndromic	2		5
PAPOLG	poly(A) polymerase gamma	2	Rare Single Gene Mutation	2		5
PARD3B	Par-3 partitioning defective 3 homolog B (C. elegans)	2	Rare Single Gene Mutation, Genetic Association	2		9
PATJ	PATJ, crumbs cell polarity complex component	1	Rare Single Gene Mutation, Genetic Association	2		5
PBX1	PBX homeobox 1	1	Rare Single Gene Mutation	2		6
PCDH10	protocadherin 10	4	Rare Single Gene Mutation, Functional	2		11
PCDH11X	protocadherin 11 X-linked	X	Rare Single Gene Mutation	2		3
PCDH15	protocadherin related 15	10	Rare Single Gene Mutation, Syndromic, Genetic Association	2		10
PCDH9	protocadherin 9	13	Rare Single Gene Mutation, Genetic Association, Functional	2		10
PCDHA1	Protocadherin alpha 1	5	Rare Single Gene Mutation, Syndromic, Genetic Association	2		4
PCDHA10	Protocadherin alpha 10	5	Rare Single Gene Mutation, Genetic Association	2		5
PCDHA11	Protocadherin alpha 11	5	Rare Single Gene Mutation, Genetic Association	2		6
PCDHA12	Protocadherin alpha 12	5	Rare Single Gene Mutation, Genetic Association	2		4
PCDHA13	Protocadherin alpha 13	5	Rare Single Gene Mutation, Genetic Association	2		5
PCDHA2	Protocadherin alpha 2	5	Rare Single Gene Mutation, Genetic Association	2		5
PCDHA3	Protocadherin alpha 3	5	Rare Single Gene Mutation, Genetic Association	2		4
PCDHA4	Protocadherin alpha 4	5	Rare Single Gene Mutation, Genetic Association	2		5
PCDHA5	Protocadherin alpha 5	5	Rare Single Gene Mutation, Genetic Association	2		5
PCDHA6	Protocadherin alpha 6	5	Rare Single Gene Mutation, Genetic Association	2		4
PCDHA7	Protocadherin alpha 7	5	Rare Single Gene Mutation, Genetic Association	2		7
PCDHA8	Protocadherin alpha 8	5	Rare Single Gene Mutation, Genetic Association	2		5
PCDHA9	Protocadherin alpha 9	5	Rare Single Gene Mutation, Genetic Association	2		4
PCDHAC1	Protocadherin alpha subfamily C, 1	5	Rare Single Gene Mutation, Genetic Association	2		3
PCDHAC2	Protocadherin alpha subfamily C, 2	5	Rare Single Gene Mutation, Genetic Association	2		4
PCM1	pericentriolar material 1	8	Rare Single Gene Mutation	2		5
PDCD1	programmed cell death 1	2	Rare Single Gene Mutation	2		4
PDE1C	phosphodiesterase 1C	7	Rare Single Gene Mutation, Genetic Association	2		3
PDK2	pyruvate dehydrogenase kinase 2	17	Rare Single Gene Mutation	2		5
PER1	period homolog 1 (Drosophila)	17	Rare Single Gene Mutation, Genetic Association	2		8
PER2	period circadian clock 2	2	Rare Single Gene Mutation	2		7
PEX7	peroxisomal biogenesis factor 7	6	Rare Single Gene Mutation, Genetic Association	2		5
PHF7	PHD finger protein 7	3	Rare Single Gene Mutation	2		3
PHRF1	PHD and ring finger domains 1	11	Rare Single Gene Mutation	2		5
PITX1	paired-like homeodomain 1	5	Rare Single Gene Mutation, Genetic Association	2		6
PLAUR	Plasminogen activator, urokinase receptor	19	Rare Single Gene Mutation, Genetic Association	2		3
PLCB1	phospholipase C, beta 1 (phosphoinositide-specific)	20	Rare Single Gene Mutation	2		8
PLCD4	phospholipase C delta 4	2	Rare Single Gene Mutation	2		5
PLN	phospholamban	6	Rare Single Gene Mutation	2		4
PLXNA3	plexin A3	X	Rare Single Gene Mutation, Syndromic	2		8
PLXNA4	Plexin A4	7	Rare Single Gene Mutation, Functional	2		5
PLXNB1	plexin B1	3	Rare Single Gene Mutation	2		4
PNPLA7	patatin like phospholipase domain containing 7	9	Rare Single Gene Mutation	2		5
PHB1	prohibitin 1	17	Genetic Association	2		1
PIK3CG	phosphoinositide-3-kinase, catalytic, gamma polypeptide	7	Genetic Association	2		4
POLA2	DNA polymerase alpha 2, accessory subunit	11	Rare Single Gene Mutation	2		4
POMT1	protein O-mannosyltransferase 1	9	Rare Single Gene Mutation	2		3
PON1	paraoxonase 1	7	Genetic Association	2		5
POT1	Protection of telomeres 1 homolog (S. pombe)	7	Rare Single Gene Mutation	2		2
PPFIA1	PTPRF interacting protein alpha 1	11	Rare Single Gene Mutation	2		4
PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	17	Rare Single Gene Mutation, Syndromic	2	S	9
PPP1R1B	Protein phosphatase 1, regulatory (inhibitor) subunit 1B	17	Genetic Association	2		1
PPP2R1B	protein phosphatase 2 regulatory subunit A, beta	11	Rare Single Gene Mutation	2		7
PREX1	Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	20	Rare Single Gene Mutation, Genetic Association	2		4
PRICKLE1	Prickle homolog 1 (Drosophila)	12	Rare Single Gene Mutation, Syndromic, Functional	2		6
PRICKLE2	prickle planar cell polarity protein 2	3	Rare Single Gene Mutation, Functional	2		7
PRKAR1B	protein kinase cAMP-dependent type I regulatory subunit beta	7	Rare Single Gene Mutation, Syndromic	2		7
PRKCA	protein kinase C alpha	17	Rare Single Gene Mutation	2		5
PRKCB	protein kinase C beta	16	Rare Single Gene Mutation, Genetic Association	2		8
PRKD2	protein kinase D2	19	Rare Single Gene Mutation	2		4
PRKDC	protein kinase, DNA-activated, catalytic polypeptide	8	Rare Single Gene Mutation, Syndromic, Functional	2		8
PRKN	parkin RBR E3 ubiquitin protein ligase	6	Rare Single Gene Mutation, Genetic Association, Functional	2		18
PRODH	Proline dehydrogenase (oxidase) 1	22	Syndromic, Genetic Association	2	S	6
PRPF39	pre-mRNA processing factor 39	14	Rare Single Gene Mutation	2		3
PRUNE2	prune homolog 2	9	Rare Single Gene Mutation, Syndromic	2		11
PSD3	pleckstrin and Sec7 domain containing 3	8	Rare Single Gene Mutation, Genetic Association	2		7
PTBP2	polypyrimidine tract binding protein 2	1	Rare Single Gene Mutation, Genetic Association	2		6
PTCHD1-AS	PTCHD1antisense RNA (head to head)	X	Rare Single Gene Mutation	2		3
PTGS2	prostaglandin-endoperoxide synthase 2	1	Rare Single Gene Mutation, Genetic Association, Functional	2		8
PTPRB	protein tyrosine phosphatase, receptor type B	12	Rare Single Gene Mutation, Genetic Association	2		5
PTPRC	protein tyrosine phosphatase, receptor type, C	1	Rare Single Gene Mutation, Genetic Association	2		11
PTPRT	protein tyrosine phosphatase, receptor type, T	20	Rare Single Gene Mutation, Functional	2		10
PXDN	peroxidasin	2	Rare Single Gene Mutation, Syndromic	2		8
PYHIN1	Pyrin and HIN domain family, member 1	1	Rare Single Gene Mutation	2		4
QRICH1	glutamine rich 1	3	Rare Single Gene Mutation, Syndromic	2		12
RAB11FIP5	RAB11 family interacting protein 5	2	Rare Single Gene Mutation, Functional	2		6
RAB2A	RAB2A, member RAS oncogene family	8	Rare Single Gene Mutation	2		8
RAB39B	RAB39B, member RAS oncogene family	X	Rare Single Gene Mutation, Syndromic, Functional	2		17
RAB43	RAB43, member RAS oncogene family	3	Rare Single Gene Mutation	2		2
RAD21L1	RAD21 cohesin complex component like 1	20	Rare Single Gene Mutation	2		3
RANBP17	RAN binding protein 17	5	Rare Single Gene Mutation	2		8
RAPGEF4	Rap guanine nucleotide exchange factor (GEF) 4	2	Rare Single Gene Mutation	2		17
RASSF5	Ras association domain family member 5	1	Rare Single Gene Mutation, Genetic Association	2		4
RBBP5	RB binding protein 5, histone lysine methyltransferase complex subunit	1	Rare Single Gene Mutation, Functional	2		5
RBFOX1	RNA binding protein, fox-1 homolog (C. elegans) 1	16	Rare Single Gene Mutation, Genetic Association	2		42
RBM27	RNA binding motif protein 27	5	Rare Single Gene Mutation	2		4
REEP3	receptor accessory protein 3	10	Rare Single Gene Mutation	2		3
RGS7	regulator of G-protein signaling 7	1	Rare Single Gene Mutation	2		6
RIMS3	regulating synaptic membrane exocytosis 3	1	Rare Single Gene Mutation	2		4
RNF135	Ring finger protein 135	17	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	5
RNF25	ring finger protein 25	2	Rare Single Gene Mutation	2		2
RNF38	ring finger protein 38	9	Rare Single Gene Mutation	2		2
ROBO2	roundabout guidance receptor 2	3	Rare Single Gene Mutation, Genetic Association, Functional	2		9
RPL10	ribosomal protein L10	X	Rare Single Gene Mutation, Syndromic	2		14
RPS6KA2	ribosomal protein S6 kinase, 90kDa, polypeptide 2	6	Rare Single Gene Mutation	2		5
RPS6KA3	Ribosomal protein S6 kinase, 90kDa, polypeptide 3	X	Rare Single Gene Mutation, Syndromic	2	S	16
SAE1	SUMO1 activating enzyme subunit 1	19	Rare Single Gene Mutation	2		4
SAMD11	sterile alpha motif domain containing 11	1	Rare Single Gene Mutation	2		3
RP11-1407O15.2		17	Rare Single Gene Mutation	2		1
SASH1	SAM and SH3 domain containing 1	6	Rare Single Gene Mutation	2		3
SATB2	SATB homeobox 2	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	41
SBF1	SET binding factor 1	22	Rare Single Gene Mutation	2		11
SCAF1	SR-related CTD associated factor 1	19	Rare Single Gene Mutation	2		3
SCAF4	SR-related CTD associated factor 4	21	Rare Single Gene Mutation, Syndromic	2	S	5
SCFD2	sec1 family domain containing 2	4	Rare Single Gene Mutation	2		2
SCN4A	Sodium channel, voltage gated, type IV alpha subunit	17	Rare Single Gene Mutation	2		5
RHOXF1	Rhox homeobox family, member 1	X	Genetic Association	2		3
RIT2	Ras-like without CAAX 2	18	Genetic Association	2		3
SCN9A	sodium voltage-gated channel alpha subunit 9	2	Rare Single Gene Mutation	2		7
SCP2	sterol carrier protein 2	1	Rare Single Gene Mutation	2		3
SDC2	syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )	8	Rare Single Gene Mutation, Genetic Association	2		4
SEMA5A	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	5	Rare Single Gene Mutation, Genetic Association, Functional	2		18
SERPINE1	serpin family E member 1	7	Genetic Association	2		2
SET	SETnuclear proto-oncogene	9	Rare Single Gene Mutation	2		6
RPS10P2-AS1	ribosomal protein S10 pseudogene 2 anti-sense 1	20	Genetic Association, Functional	2		4
SETD1B	SET domain containing 1B	12	Rare Single Gene Mutation, Syndromic, Functional	2	S	18
SETDB1	SET domain, bifurcated 1	1	Rare Single Gene Mutation	2		5
SETDB2	SET domain, bifurcated 2	13	Rare Single Gene Mutation, Syndromic	2		3
SEZ6L2	SEZ6L2 seizure related 6 homolog (mouse)-like 2	16	Rare Single Gene Mutation, Genetic Association	2		7
SF3B1	splicing factor 3b subunit 1	2	Rare Single Gene Mutation	2		6
SGSM3	Small G protein signaling modulator 3	22	Rare Single Gene Mutation	2		7
SH3RF3	SH3 domain containing ring finger 3	2	Rare Single Gene Mutation	2		3
SHANK1	SH3 and multiple ankyrin repeat domains 1	19	Rare Single Gene Mutation, Genetic Association	2		13
SHOX	short stature homeobox	X,Y	Rare Single Gene Mutation	2		2
SIN3B	SIN3 transcription regulator family member B	19	Rare Single Gene Mutation, Syndromic	2	S	5
SLC12A5	Solute carrier family 12 (potassium/chloride transporter), member 5	20	Rare Single Gene Mutation, Functional	2		9
SLC1A1	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	9	Rare Single Gene Mutation, Genetic Association	2		13
SLC22A15	Solute carrier family 22, member 15	1	Genetic Association	2		1
SLC22A9	solute carrier family 22 member 9	11	Rare Single Gene Mutation	2		5
SLC24A2	solute carrier family 24 member 2	9	Rare Single Gene Mutation	2		4
SLC25A12	solute carrier family 25 (mitochondrial carrier, Aralar), member 12	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		24
SLC25A27	solute carrier family 25 member 27	6	Genetic Association	2		1
SLC25A39	solute carrier family 25 member 39	17	Rare Single Gene Mutation	2		3
SLC27A4	Solute carrier family 27 (fatty acid transporter), member 4	9	Rare Single Gene Mutation, Syndromic	2		3
SLC29A4	solute carrier family 29 member 4	7	Rare Single Gene Mutation	2		2
SLC35B1	solute carrier family 35 member B1	17	Genetic Association	2		1
SLC38A10	solute carrier family 38, member 10	17	Rare Single Gene Mutation	2		3
SLC4A10	solute carrier family 4, sodium bicarbonate transporter-like, member 10	2	Rare Single Gene Mutation, Genetic Association	2		7
SLC6A3	Solute carrier family 6 (neurotransmitter transporter), member 3	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		16
SLC6A4	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	17	Rare Single Gene Mutation, Genetic Association, Functional	2		28
SLC6A8	solute carrier family 6 (neurotransmitter transporter, creatine), member 8	X	Rare Single Gene Mutation, Syndromic	2		20
SLC7A3	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	X	Rare Single Gene Mutation	2		2
SLC7A5	solute carrier family 7 member 5	16	Rare Single Gene Mutation, Functional	2		5
SLC7A7	solute carrier family 7 member 7	14	Rare Single Gene Mutation	2		3
SLC9A9	solute carrier family 9 (sodium/hydrogen exchanger), member 9	3	Rare Single Gene Mutation, Genetic Association, Functional	2		15
SLCO1B3	Solute carrier organic anion transporter family, member 1B3	12	Rare Single Gene Mutation	2		5
SLITRK5	SLIT and NTRK like family member 5	13	Rare Single Gene Mutation, Functional	2		10
SMAD4	SMAD family member 4	18	Rare Single Gene Mutation	2		8
SMC3	structural maintenance of chromosomes 3	10	Rare Single Gene Mutation, Syndromic	2	S	11
SMG6	SMG6, nonsense mediated mRNA decay factor	17	Rare Single Gene Mutation	2		3
SMURF1	SMAD specific E3 ubiquitin protein ligase 1	7	Rare Single Gene Mutation	2		2
SNAP25	Synaptosomal-associated protein, 25kDa	20	Rare Single Gene Mutation, Genetic Association	2		9
SND1	staphylococcal nuclease and tudor domain containing 1	7	Rare Single Gene Mutation, Genetic Association	2		9
SNTG2	syntrophin gamma 2	2	Rare Single Gene Mutation	2		6
SNX5	sorting nexin 5	20	Rare Single Gene Mutation	2		5
SOD1	superoxide dismutase 1	21	Rare Single Gene Mutation, Genetic Association, Functional	2		3
SORCS3	sortilin related VPS10 domain containing receptor 3	10	Rare Single Gene Mutation, Syndromic, Genetic Association	2		6
SPARCL1	SPARC like 1	4	Rare Single Gene Mutation, Functional	2		5
SPEN	spenfamily transcriptional repressor	1	Rare Single Gene Mutation, Syndromic	2		14
SPP2	secreted phosphoprotein 2	2	Rare Single Gene Mutation	2		4
SPRY2	sprouty RTK signaling antagonist 2	13	Rare Single Gene Mutation, Functional	2		3
SPTBN1	spectrin beta, non-erythrocytic 1	2	Rare Single Gene Mutation, Syndromic	2	S	9
SRGAP3	SLIT-ROBO Rho GTPase activating protein 3	3	Rare Single Gene Mutation	2		6
SRRM2	serine/arginine repetitive matrix 2	16	Rare Single Gene Mutation, Syndromic	2	S	12
SRSF11	serine and arginine rich splicing factor 11	1	Rare Single Gene Mutation	2		6
SSRP1	structure specific recognition protein 1	11	Rare Single Gene Mutation	2		3
ST7	suppression of tumorigenicity 7	7	Rare Single Gene Mutation	2		4
ST8SIA2	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	15	Rare Single Gene Mutation, Genetic Association, Functional	2		12
STX1A	Syntaxin 1A (brain)	7	Rare Single Gene Mutation, Genetic Association	2		6
STXBP5	Syntaxin binding protein 5 (tomosyn)	6	Rare Single Gene Mutation	2		7
STYK1	Serine/threonine/tyrosine kinase 1	12	Rare Single Gene Mutation, Genetic Association	2		3
SUPT16H	SPT16 homolog, facilitates chromatin remodeling subunit	14	Rare Single Gene Mutation, Syndromic	2	S	8
SYAP1	Synapse associated protein 1	X	Rare Single Gene Mutation	2		2
SYN2	Synapsin II	3	Rare Single Gene Mutation, Genetic Association, Functional	2		6
SYNCRIP	synaptotagmin binding cytoplasmic RNA interacting protein	6	Rare Single Gene Mutation, Syndromic	2		9
SYNE1	spectrin repeat containing, nuclear envelope 1	6	Rare Single Gene Mutation, Genetic Association	2		22
SYNJ1	synaptojanin 1	21	Rare Single Gene Mutation	2		2
TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	16	Rare Single Gene Mutation, Genetic Association	2		3
TAF4	TATA-box binding protein associated factor 4	20	Rare Single Gene Mutation, Syndromic	2	S	4
TAF6	TATA-box binding protein associated factor 6	7	Rare Single Gene Mutation	2		4
TAOK2	TAO kinase 2	16	Rare Single Gene Mutation, Functional	2		8
TBC1D31	TBC1 domain family, member 31	8	Rare Single Gene Mutation	2		6
TBC1D5	TBC1 domain family, member 5	3	Rare Single Gene Mutation, Genetic Association	2		9
STK39	serine threonine kinase 39 (STE20/SPS1 homolog, yeast)	2	Genetic Association	2		5
SYT17	synaptotagmin XVII	16	Genetic Association	2		2
TBL1X	transducin (beta)-like 1X-linked	X	Genetic Association	2		1
TDO2	tryptophan 2,3-dioxygenase	4	Genetic Association	2		4
TECTA	tectorin alpha	11	Rare Single Gene Mutation	2		8
TERB2	telomere repeat binding bouquet formation protein 2	15	Rare Single Gene Mutation	2		1
TERF2	Telomeric repeat binding factor 2	16	Rare Single Gene Mutation	2		5
TET2	Tet methylcytosine dioxygenase 2	4	Rare Single Gene Mutation	2		6
THBS1	Thrombospondin 1	15	Rare Single Gene Mutation, Genetic Association	2		5
THRA	thyroid hormone receptor alpha	17	Rare Single Gene Mutation, Functional	2		5
TM4SF19	transmembrane 4 L six family member 19	3	Rare Single Gene Mutation	2		3
TMEM39B	transmembrane protein 39B	1	Rare Single Gene Mutation	2		4
TMLHE	trimethyllysine hydroxylase, epsilon	X	Rare Single Gene Mutation, Genetic Association	2		6
TNRC6B	Trinucleotide repeat containing 6B	22	Rare Single Gene Mutation, Syndromic	2		16
TNRC6C	trinucleotide repeat containing adaptor 6C	17	Rare Single Gene Mutation	2		6
TOP2B	DNA topoisomerase II beta	3	Rare Single Gene Mutation, Functional	2		5
TOP3B	Topoisomerase (DNA) III beta	22	Rare Single Gene Mutation, Genetic Association, Functional	2		7
TPO	Thyroid peroxidase	2	Genetic Association	2		1
TRAPPC9	trafficking protein particle complex 9	8	Rare Single Gene Mutation, Syndromic	2		19
TRPC6	Transient receptor potential cation channel, subfamily C, member 6	11	Rare Single Gene Mutation	2		5
TRPM1	transient receptor potential cation channel subfamily M member 1	15	Rare Single Gene Mutation	2		4
TRRAP	transformation/transcription domain associated protein	7	Rare Single Gene Mutation, Syndromic	2	S	11
TSPAN17	tetraspanin 17	5	Rare Single Gene Mutation	2		4
TSPAN4	tetraspanin 4	11	Rare Single Gene Mutation	2		4
TSPAN7	tetraspanin 7	X	Rare Single Gene Mutation	2		8
TSPOAP1	TSPO associated protein 1	17	Rare Single Gene Mutation	2		6
TTN	titin	2	Rare Single Gene Mutation, Syndromic	2	S	27
TUBGCP5	tubulin, gamma complex associated protein 5	15	Rare Single Gene Mutation	2		6
UBE3C	Ubiquitin protein ligase E3C	7	Rare Single Gene Mutation, Syndromic	2		5
UBN2	ubinuclein 2	7	Rare Single Gene Mutation	2		5
UBR5	ubiquitin protein ligase E3 component n-recognin 5	8	Rare Single Gene Mutation	2		10
UIMC1	ubiquitin interaction motif containing 1	5	Rare Single Gene Mutation	2		6
UNC13A	unc-13 homolog A	19	Rare Single Gene Mutation, Syndromic	2	S	9
UNC79	unc-79 homolog, NALCN channel complex subunit	14	Rare Single Gene Mutation, Functional	2		7
UNC80	unc-80 homolog, NALCN activator	2	Rare Single Gene Mutation	2		9
UPF2	UPF2, regulator of nonsense mediated mRNA decay	10	Rare Single Gene Mutation, Functional	2		10
USH2A	usherin	1	Rare Single Gene Mutation	2		8
USP15	ubiquitin specific peptidase 15	12	Rare Single Gene Mutation	2		3
USP45	Ubiquitin specific peptidase 45	6	Rare Single Gene Mutation	2		5
USP7	Ubiquitin specific peptidase 7 (herpes virus-associated)	16	Rare Single Gene Mutation, Syndromic, Functional	2	S	11
USP9Y	ubiquitin specific peptidase 9, Y-linked	Y	Rare Single Gene Mutation, Genetic Association	2		2
VIL1	Villin 1	2	Rare Single Gene Mutation	2		3
VSIG4	V-set and immunoglobulin domain containing 4	X	Rare Single Gene Mutation	2		2
WDFY4	WDFY family member 4	10	Rare Single Gene Mutation	2		9
WNK3	WNK lysine deficient protein kinase 3	X	Rare Single Gene Mutation	2		6
WNT1	Wingless-type MMTV integration site family, member 1	12	Rare Single Gene Mutation, Syndromic, Genetic Association	2		5
WWOX	WW domain containing oxidoreductase	16	Rare Single Gene Mutation, Syndromic	2		13
XPO1	exportin 1	2	Rare Single Gene Mutation, Genetic Association	2		8
YEATS2	YEATS domain containing 2	3	Rare Single Gene Mutation, Genetic Association	2		3
YTHDC2	YTH domain containing 2	5	Rare Single Gene Mutation, Genetic Association	2		6
YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	17	Rare Single Gene Mutation	2		5
ZBTB16	Zinc finger and BTB domain containing 16	11	Rare Single Gene Mutation, Genetic Association, Functional	2		3
ZC3H11A	zinc finger CCCH-type containing 11A	1	Rare Single Gene Mutation	2		4
TRIM33	Tripartite motif containing 33	1	Genetic Association	2		1
UBE2H	ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)	7	Genetic Association	2		2
VASH1	vasohibin 1	14	Genetic Association	2		4
VDR	vitamin D receptor	12	Genetic Association, Functional	2		10
ZC3H4	zinc finger CCCH-type containing 4	19	Rare Single Gene Mutation	2		6
ZFYVE26	zinc finger FYVE-type containing 26	14	Rare Single Gene Mutation	2		6
ZMIZ1	zinc finger MIZ-type containing 1	10	Rare Single Gene Mutation, Syndromic	2	S	8
ZMYM2	zinc finger MYM-type containing 2	13	Rare Single Gene Mutation, Syndromic	2	S	8
ZMYND11	Zinc finger, MYND-type containing 11	10	Rare Single Gene Mutation, Syndromic	2		13
ZNF18	zinc finger protein 18	17	Rare Single Gene Mutation	2		2
ZNF385B	Zinc finger protein 385B	2	Genetic Association	2		2
ZNF517	Zinc finger protein 517	8	Rare Single Gene Mutation	2		5
ZNF548	zinc finger protein 548	19	Rare Single Gene Mutation	2		4
ZNF559	Zinc finger protein 559	19	Rare Single Gene Mutation	2		8
ZNF626	zinc finger protein 626	19	Rare Single Gene Mutation	2		3
ZNF711	zinc finger protein 711	X	Rare Single Gene Mutation	2		5
ZNF713	Zinc finger protein 713	7	Rare Single Gene Mutation	2		3
ZNF774	Zinc finger protein 774	15	Rare Single Gene Mutation	2		4
ZNF804A	Zinc finger protein 804A	2	Rare Single Gene Mutation, Genetic Association, Functional	2		16
ZNF827	Zinc finger protein 827	4	Rare Single Gene Mutation, Genetic Association	2		3
ZWILCH	zwilchkinetochore protein	15	Rare Single Gene Mutation	2		5

3 Category 3 [97 genes]

Gene Symbol	Gene Name	Chromosome	Genetic Category	Gene Score	Syndromic	reports
ABL2	ABL proto-oncogene 2, non-receptor tyrosine kinase	1	Rare Single Gene Mutation, Functional	3		10
ADGRL1	adhesion G protein-coupled receptor L1	19	Rare Single Gene Mutation, Syndromic	3	S	5
AGAP5	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	10	Rare Single Gene Mutation	3		2
ALDH1L1	aldehyde dehydrogenase 1 family member L1	3	Rare Single Gene Mutation	3		6
ARHGEF2	Rho/Rac guanine nucleotide exchange factor 2	1	Rare Single Gene Mutation, Syndromic	3		7
ATP2B1	ATPase plasma membrane Ca2+ transporting 1	12	Rare Single Gene Mutation, Syndromic	3	S	2
BACE1	beta-secretase 1	11	Rare Single Gene Mutation, Functional	3		4
BAIAP2L1	BAR/IMD domain containing adaptor protein 2 like 1	7	Rare Single Gene Mutation	3		6
BRINP3	BMP/retinoic acid inducible neural specific 3	1	Rare Single Gene Mutation, Functional	3		3
CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	17	Rare Single Gene Mutation	3		3
CAT	catalase	11	Rare Single Gene Mutation, Functional	3		4
CDK19	cyclin dependent kinase 19	6	Rare Single Gene Mutation, Syndromic	3	S	7
CDK5RAP2	CDK5 regulatory subunit associated protein 2	9	Rare Single Gene Mutation, Syndromic	3		13
CDON	cell adhesion associated, oncogene regulated	11	Rare Single Gene Mutation	3		3
CHD9	chromodomain helicase DNA binding protein 9	16	Rare Single Gene Mutation	3		6
CHM	CHMRab escort protein	X	Rare Single Gene Mutation	3		7
CHST2	carbohydrate sulfotransferase 2	3	Rare Single Gene Mutation	3		3
CLIP2	CAP-Gly domain containing linker protein 2	7	Genetic Association	3		1
CSMD3	CUB and Sushi multiple domains 3	8	Rare Single Gene Mutation, Functional	3		9
CSNK1G1	casein kinase 1 gamma 1	15	Rare Single Gene Mutation, Syndromic	3	S	3
CTR9	CTR9homolog, Paf1/RNA polymerase II complex component	11	Rare Single Gene Mutation, Syndromic	3	S	9
EIF4G1	eukaryotic translation initiation factor 4 gamma 1	3	Rare Single Gene Mutation, Functional	3		4
ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1	6	Rare Single Gene Mutation	3		5
EPHB1	EPH receptor B1	3	Rare Single Gene Mutation	3		10
FABP4	fatty acid binding protein 4	8	Rare Single Gene Mutation	3		3
FGF13	fibroblast growth factor 13	X	Syndromic	3	S	2
FGF14	fibroblast growth factor 14	13	Rare Single Gene Mutation	3		2
FXN	frataxin	9	Rare Single Gene Mutation	3		2
GPC5	glypican 5	13	Rare Single Gene Mutation	3		8
GRB10	growth factor receptor bound protein 10	7	Rare Single Gene Mutation, Functional	3		11
HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	6	Rare Single Gene Mutation, Syndromic	3		8
HCN1	Hyperpolarization activated cyclic nucleotide-gated potassium channel 1	5	Rare Single Gene Mutation, Genetic Association	3		12
IGF1	insulin like growth factor 1	12	Rare Single Gene Mutation, Functional	3		8
IKZF1	IKAROS family zinc finger 1	7	Rare Single Gene Mutation	3		6
ITGA8	integrin subunit alpha 8	10	Rare Single Gene Mutation	3		6
KAT6B	lysine acetyltransferase 6B	10	Rare Single Gene Mutation, Syndromic	3		7
KCNA2	potassium voltage-gated channel subfamily A member 2	1	Rare Single Gene Mutation	3		8
KCNC2	potassium voltage-gated channel subfamily C member 2	12	Rare Single Gene Mutation	3		10
KDM2A	lysine demethylase 2A	11	Rare Single Gene Mutation	3		8
KLF7	Kruppel like factor 7	2	Rare Single Gene Mutation, Functional	3		13
KIZ	kizuna centrosomal protein	20	Genetic Association, Functional	3		2
KNG1	kininogen 1	3	Rare Single Gene Mutation	3		2
LAS1L	LAS1 like ribosome biogenesis factor	X	Rare Single Gene Mutation, Syndromic	3		5
LDLR	low density lipoprotein receptor	19	Rare Single Gene Mutation	3		2
LMTK3	lemur tyrosine kinase 3	19	Rare Single Gene Mutation, Functional	3		5
MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	19	Rare Single Gene Mutation	3		5
MAPK8IP1	mitogen-activated protein kinase 8 interacting protein 1	11	Rare Single Gene Mutation	3		4
MAPT	microtubule associated protein tau	17	Genetic Association, Functional	3		3
MAST3	microtubule associated serine/threonine kinase 3	19	Rare Single Gene Mutation, Functional	3		7
MINK1	misshapen like kinase 1	17	Rare Single Gene Mutation	3		8
MSX2	msh homeobox 2	5	Rare Single Gene Mutation, Syndromic	3	S	2
MYLK	myosin light chain kinase	3	Rare Single Gene Mutation	3		3
MYOCD	myocardin	17	Rare Single Gene Mutation	3		3
NCAPH2	non-SMC condensin II complex subunit H2	22	Rare Single Gene Mutation	3		1
MSRA	methionine sulfoxide reductase A	8	Genetic Association, Functional	3		11
NPFFR2	neuropeptide FF receptor 2	4	Rare Single Gene Mutation	3		7
NKX2-2	NK2 homeobox 2	20	Genetic Association, Functional	3		2
NXF1	nuclear RNA export factor 1	11	Rare Single Gene Mutation	3		2
PABPC1	poly(A) binding protein cytoplasmic 1	8	Rare Single Gene Mutation, Syndromic	3	S	6
PC	pyruvate carboxylase	11	Rare Single Gene Mutation	3		8
PDE3B	phosphodiesterase 3B	11	Rare Single Gene Mutation	3		6
PEBP4	phosphatidylethanolamine binding protein 4	8	Rare Single Gene Mutation	3		1
PHF14	PHD finger protein 14	7	Rare Single Gene Mutation, Syndromic	3		6
PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	3	Rare Single Gene Mutation, Syndromic	3		8
PJA1	praja ring finger ubiquitin ligase 1	X	Syndromic	3	S	1
POLR2A	RNA polymerase II subunit A	17	Rare Single Gene Mutation, Syndromic	3	S	8
POLR3A	RNA polymerase III subunit A	10	Rare Single Gene Mutation, Syndromic	3	S	9
PPP3CA	protein phosphatase 3 catalytic subunit alpha	4	Rare Single Gene Mutation, Syndromic	3	S	10
PRPF8	pre-mRNA processing factor 8	17	Rare Single Gene Mutation, Syndromic	3	S	8
PTDSS1	phosphatidylserine synthase 1	8	Rare Single Gene Mutation, Syndromic	3		6
RFX4	regulatory factor X4	12	Rare Single Gene Mutation, Syndromic	3	S	2
RFX7	regulatory factor X7	15	Rare Single Gene Mutation, Syndromic	3	S	4
RIMS2	regulating synaptic membrane exocytosis 2	8	Rare Single Gene Mutation, Syndromic, Genetic Association	3	S	5
SENP1	SUMO specific peptidase 1	12	Rare Single Gene Mutation	3		2
SH3RF1	SH3 domain containing ring finger 1	4	Rare Single Gene Mutation, Functional	3		5
SLC1A2	Solute carrier family 1 (glial high affinity glutamate transporter), member 2	11	Rare Single Gene Mutation, Genetic Association, Functional	3		9
SLC23A1	solute carrier family 23 member 1	5	Rare Single Gene Mutation	3		5
SYBU	syntabulin	8	Rare Single Gene Mutation	3		1
SYCE1	synaptonemal complex central element protein 1	10	Rare Single Gene Mutation	3		2
SYP	synaptophysin	X	Rare Single Gene Mutation	3		4
TBX22	T-box transcription factor 22	X	Rare Single Gene Mutation	3		2
TCEAL1	transcription elongation factor A like 1	X	Rare Single Gene Mutation, Syndromic	3	S	2
TFB2M	transcription factor B2, mitochondrial	1	Rare Single Gene Mutation	3		1
TMEM134	transmembrane protein 134	11	Rare Single Gene Mutation	3		2
TNPO3	transportin 3	7	Rare Single Gene Mutation	3		6
TNS2	tensin 2	12	Rare Single Gene Mutation	3		2
TRAPPC2L	trafficking protein particle complex 2 like	16	Rare Single Gene Mutation, Syndromic	3		4
TRIM32	tripartite motif containing 32	9	Rare Single Gene Mutation, Functional	3		5
TRPM6	transient receptor potential cation channel subfamily M member 6	9	Rare Single Gene Mutation	3		6
TRPC5	transient receptor potential cation channel subfamily C member 5	X	Rare Single Gene Mutation	3		7
UNC5D	unc-5 netrin receptor D	8	Rare Single Gene Mutation	3		4
USP30	ubiquitin specific peptidase 30	12	Rare Single Gene Mutation	3		3
VWA7	von Willebrand factor A domain containing 7	6	Rare Single Gene Mutation	3		2
WWP1	WW domain containing E3 ubiquitin protein ligase 1	8	Rare Single Gene Mutation	3		2
XRCC6	X-ray repair cross complementing 6	22	Rare Single Gene Mutation	3		2
YWHAG	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma	7	Rare Single Gene Mutation, Syndromic	3	S	9
YWHAZ	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta	8	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	3		15