ClinVar Miner

Variants studied for Autism spectrum disorder

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
26 52 107 106 30 89 15 422

Gene and significance breakdown #

Total genes and gene combinations: 124
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ANKRD11 1 0 30 89 30 0 0 150
SHANK2 1 0 44 10 0 0 0 55
POGZ 0 1 1 0 0 47 0 49
​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
CHD8 4 2 2 0 0 0 0 8
TANC2 0 3 3 0 0 0 0 6
ARHGEF9 0 0 3 0 0 0 0 3
MEF2C 2 1 0 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, LOC112352679, LOC112352680, LOC112694756, LOC116276452, MAPK3, MAZ, MIR3680-2, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 0 2 0 0 0 0 0 2
ANKRD11, TRAPPC2L 0 0 0 2 0 0 0 2
ARID1B 0 2 0 0 0 0 0 2
CNTNAP2 0 1 1 0 0 0 0 2
CSMD1 0 0 1 0 0 1 0 2
PTEN 0 2 0 0 0 0 0 2
SHANK3 2 0 0 0 0 0 0 2
SLITRK5 0 0 0 0 0 2 0 2
SYNCRIP 0 0 0 0 0 2 0 2
TRANK1 0 0 0 0 0 2 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
ACACB 0 0 0 0 0 1 0 1
ACADVL, DLG4 0 0 0 0 0 1 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
ADNP 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, 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, YPEL3-DT, ZG16 0 1 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 0 1 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352680, LOC112694756, LOC116276452, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, 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
ASXL1 0 1 0 0 0 0 0 1
ATP10A 0 0 0 0 0 1 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
BIRC6 0 0 0 0 0 1 0 1
CACNB2 0 0 1 0 0 0 0 1
CDK13 1 0 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
CLEC3A, VAT1L, WWOX 0 0 0 0 0 1 0 1
CLSTN3 0 0 0 0 0 1 0 1
CNTN4 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
DMXL2 0 0 0 0 0 1 0 1
DST 0 0 0 0 0 1 0 1
DYNC1H1 0 1 0 0 0 0 0 1
ELP4 0 0 0 0 0 1 0 1
FASN 0 0 0 0 0 1 0 1
GIGYF1 0 0 1 0 0 0 0 1
GNB1 0 1 0 0 0 0 0 1
GRIA1 0 1 0 0 0 0 0 1
GRM5 0 0 0 0 0 1 0 1
HEPACAM 0 1 0 0 0 0 0 1
IQSEC2 0 1 0 0 0 0 0 1
JMJD1C 0 0 0 0 0 1 0 1
KAT6A 0 1 0 0 0 0 0 1
KCNK9 0 0 0 0 0 1 0 1
KCNMA1 0 0 1 0 0 0 0 1
KCNS3 0 0 0 0 0 1 0 1
KIRREL3 0 0 0 0 0 1 0 1
KMT5B 0 1 0 0 0 0 0 1
LAMB1 0 0 0 0 0 1 0 1
LARP4B 0 0 0 0 0 1 0 1
LOC112272560, NRXN3 0 0 1 0 0 0 0 1
LZTR1 0 0 0 0 0 1 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
MCM3AP 0 0 0 0 0 1 0 1
MED13L 0 1 0 0 0 0 0 1
MYT1 0 0 0 0 0 1 0 1
NALCN 0 0 0 0 0 1 0 1
NF1 0 1 0 0 0 0 0 1
NR3C2 1 0 0 0 0 0 0 1
NR4A2 0 1 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
PAFAH1B3 0 0 0 0 0 1 0 1
PLCG1, TOP1 0 0 0 0 0 1 0 1
POMGNT1, TSPAN1 0 0 1 0 0 0 0 1
PTCHD1 0 1 0 0 0 0 0 1
PTPN11 0 1 0 0 0 0 0 1
PTPRT 0 0 0 0 0 1 0 1
RBFOX1 0 0 1 0 0 0 0 1
RERE 0 1 0 0 0 0 0 1
RNF135 1 0 0 0 0 0 0 1
RPS6KA2 0 0 0 0 0 1 0 1
RRP8 0 0 0 0 0 1 0 1
SATB2 0 1 0 0 0 0 0 1
SBF1 0 1 0 0 0 0 0 1
SDK1 0 0 0 0 0 1 0 1
SETD5 0 1 0 0 0 0 0 1
SLC25A12 0 0 1 0 0 0 0 1
SLC9A3 0 0 0 0 0 1 0 1
SMC3 0 1 0 0 0 0 0 1
SMG9 0 0 0 0 0 1 0 1
SPG11 0 0 0 0 0 1 0 1
STARD9 0 0 0 0 0 1 0 1
STXBP1 0 1 0 0 0 0 0 1
THBS1 0 0 0 0 0 1 0 1
TNRC6B 0 0 0 0 0 1 0 1
TOP2B 0 1 0 0 0 0 0 1
TUB 0 0 0 0 0 1 0 1
UBN2 0 1 0 0 0 0 0 1
UPF2 0 0 0 0 0 1 0 1
WDFY3 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: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Ambry Genetics 1 0 30 91 30 0 0 152
Illumina Clinical Services Laboratory,Illumina 0 0 65 15 0 0 0 80
University of Washington Center for Mendelian Genomics, University of Washington 0 22 3 0 0 41 0 66
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
Diagnostic Laboratory, Strasbourg University Hospital 0 2 4 0 0 0 0 6
GenomeConnect - Simons Searchlight 4 1 0 0 0 0 0 5
Tuberous sclerosis database (TSC1) 0 0 0 0 0 0 3 3
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 1 2 2 0 0 0 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 0 1
Bicknell laboratory, University of Otago 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.