ClinVar Miner

Variants studied for Autism spectrum disorder

Coded as:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
52 34 154 105 26 55 15 441

Gene and significance breakdown #

Total genes and gene combinations: 64
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ANKRD11 1 0 35 90 26 0 0 152
SHANK2 1 0 42 10 0 0 0 53
​intergenic 30 16 2 0 0 0 0 48
POGZ 0 0 1 0 0 47 0 48
SNHG14, SNRPN, SNURF 0 0 15 2 0 0 0 17
TSC2 0 1 0 0 0 0 12 13
SNHG14, SNRPN 0 0 7 3 0 0 0 10
NRXN1 0 0 7 0 0 0 0 7
RBFOX1 0 0 6 0 0 0 0 6
CNTN4 0 0 5 0 0 0 0 5
CYFIP1 0 0 5 0 0 0 0 5
WWOX 0 0 0 0 0 5 0 5
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 0 4 0 0 0 0 4
MACROD2 0 0 4 0 0 0 0 4
ANK2 0 0 3 0 0 0 0 3
CSMD1 0 0 3 0 0 0 0 3
CYFIP1, GOLGA6L1, NIPA1, NIPA2, TUBGCP5 0 0 3 0 0 0 0 3
TSC1 0 0 0 0 0 0 3 3
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC101928595, LOC112352679, LOC112352680, LOC112694756, MAPK3, MAZ, MIR3680-2, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 0 2 0 0 0 0 0 2
CLEC3A, VAT1L, WWOX 0 0 0 0 0 2 0 2
CNTNAP2 0 1 1 0 0 0 0 2
MEF2C 2 0 0 0 0 0 0 2
PTEN 0 2 0 0 0 0 0 2
SHANK3 2 0 0 0 0 0 0 2
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 1 0 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2 1 0 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 0 0 0 0 0 0 1
ACR, ADM2, ALG12, ARSA, CHKB, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, ODF3B, PANX2, PIM3, PLXNB2, PPP6R2, RABL2B, SBF1, SCO2, SELENOO, SHANK3, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 1 0 0 0 0 0 0 1
ACVR1, ACVR1C, CYTIP, ERMN, FLJ46875, GALNT5, GPD2, KCNJ3, LINC01876, LOC110120673, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, NR4A2, TRA-CGC3-1, TRG-GCC2-2 0 1 0 0 0 0 0 1
ALDOA, ASPHD1, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC101928595, LOC112352679, LOC112352680, LOC112694756, MAPK3, MAZ, MIR3680-2, MVP, NPIPB11, NPIPB12, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SPN, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 0 1 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC101928595, LOC112352679, LOC112352680, LOC112694756, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 0 1 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC101928595, LOC112352680, LOC112694756, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 0 1 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, MED15, MRPL40, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SLC25A1, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L6, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, OR4M2, OR4N4, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 0 1
ATP10A, CYFIP1, GOLGA6L1, GOLGA6L2, GOLGA6L6, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OR4M2, OR4N4, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, OCA2, PWAR1, PWAR4, SNORD115-1, UBE3A 1 0 0 0 0 0 0 1
AUTS2 0 0 1 0 0 0 0 1
AUTS2, LOC110121097 0 0 1 0 0 0 0 1
CACNB2 0 0 1 0 0 0 0 1
CDKL5, RS1 0 1 0 0 0 0 0 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 0 1
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 0 1
CLEC3A, NUDT7, VAT1L, WWOX 0 0 0 0 0 1 0 1
CSMD1, LOC107522030 0 0 1 0 0 0 0 1
CYP4V2, FAM149A, FLJ38576, KLKB1, TLR3 0 0 1 0 0 0 0 1
DEAF1 0 1 0 0 0 0 0 1
DMD 0 1 0 0 0 0 0 1
GIGYF1 0 0 1 0 0 0 0 1
HEPACAM 0 1 0 0 0 0 0 1
IQSEC2 0 1 0 0 0 0 0 1
KCNMA1 0 0 1 0 0 0 0 1
LOC112272560, NRXN3 0 0 1 0 0 0 0 1
MAP2K1 1 0 0 0 0 0 0 1
MBD5 1 0 0 0 0 0 0 1
NF1 0 1 0 0 0 0 0 1
NR3C2 1 0 0 0 0 0 0 1
OR4A47, OR4C5 0 0 1 0 0 0 0 1
RNF135 1 0 0 0 0 0 0 1
SBF1 0 1 0 0 0 0 0 1
SLC25A12 0 0 1 0 0 0 0 1
TOP2B 0 1 0 0 0 0 0 1
ZNF716 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Ambry Genetics 1 0 35 90 26 0 0 152
Geschwind lab,University of California Los Angeles 31 4 52 0 0 8 0 95
Illumina Clinical Services Laboratory,Illumina 0 0 63 15 0 0 0 78
Center of Medical Genetics,Central South University 0 0 0 0 0 47 0 47
Liping Wei Laboratory,Peking University 19 24 0 0 0 0 0 43
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 12 12
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 1 5 3 0 0 0 0 9
Tuberous sclerosis database (TSC1) 0 0 0 0 0 0 3 3
Clinics for Rare Diseases Referral (Hong Kong),The University of Hong Kong 0 1 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 0 1

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