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
21 25 100 105 26 48 15 337

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 34 89 26 0 0 150
SHANK2 1 0 42 10 0 0 0 53
POGZ 0 0 1 0 0 47 0 48
​intergenic 11 14 1 0 0 0 0 24
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
TSC1 0 0 0 0 0 0 3 3
ANKRD11, TRAPPC2L 0 0 1 1 0 0 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, LOC116276452, 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, LOC116276452, MAPK3, MAZ, MIR3680-2, 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, LOC112352679, LOC112352680, LOC112694756, LOC116276452, 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, LOC116276452, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 0 1 0 0 0 0 0 1
ANK2 0 0 1 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
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
CLEC3A, VAT1L, WWOX 0 0 0 0 0 1 0 1
CNTN4 0 0 1 0 0 0 0 1
CSMD1 0 0 1 0 0 0 0 1
CSMD1, LOC107522030 0 0 1 0 0 0 0 1
CYFIP1 0 0 1 0 0 0 0 1
CYFIP1, GOLGA6L1, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 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
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
MACROD2 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
NRXN1 0 0 1 0 0 0 0 1
OR4A47, OR4C5 0 0 1 0 0 0 0 1
RBFOX1 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
UBN2 0 1 0 0 0 0 0 1
WWOX 0 0 0 0 0 1 0 1
ZNF716 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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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
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 22 0 0 0 0 0 41
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 12 12
Tuberous sclerosis database (TSC1) 0 0 0 0 0 0 3 3
Baylor Genetics 0 1 0 0 0 0 0 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 1 1 1 0 0 0 0 1
Geschwind lab,University of California Los Angeles 1 1 1 0 0 1 0 1
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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