ClinVar Miner

List of variants reported as likely pathogenic for autism spectrum disorder

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
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HGVS dbSNP
10q21.3duplication
16q24.1duplication
1q41 duplication
20p12.1duplication
2q14.3duplication
2q24.3deletion
4q35.2deletion
5p15.31duplication
6p22.3duplication
6q23.3deletion
7q31.1duplication
8q24.13duplication
8q24.3duplication
GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1
GRCh37/hg19 3p26.3-26.1(chr3:73914-4331711)
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3
NC_000001.11:g.(?_103175204)_(111410059_?)del
NC_000001.11:g.(?_204033173)_(208209798_?)del
NC_000001.11:g.(?_231740970)_(231949671_?)del
NC_000002.12:g.(?_235927172)_(236034017_?)del
NC_000003.12:g.(?_1133359)_(1192637_?)del
NC_000003.12:g.(?_1185337)_(1255844_?)del
NC_000003.12:g.(?_1204527)_(1310468_?)del
NC_000003.12:g.(?_1247669)_(1285156_?)del
NC_000003.12:g.(?_60501297)_(60591815_?)del
NC_000004.12:g.(?_148159332)_(148473475_?)del
NC_000006.12:g.(?_162035873)_(162195188_?)del
NC_000006.12:g.(?_162036131)_(162191715_?)del
NC_000006.12:g.(?_162162293)_(162311859_?)del
NC_000006.12:g.(?_162184117)_(162211182_?)del
NC_000006.12:g.(?_162440726)_(162603304_?)del
NC_000007.14:g.(?_111777402)_(111865491_?)del
NC_000007.14:g.(?_146655407)_(146796363_?)del
NC_000007.14:g.(?_152454659)_(158705768_?)del
NC_000008.11:g.(?_3876145)_(3961401_?)del
NC_000008.11:g.(?_3914469)_(4157437_?)del
NC_000008.11:g.(?_4410048)_(4458635_?)del
NC_000008.11:g.(?_9998540)_(10117911_?)del
NC_000009.12:g.(?_116611967)_(116683530_?)del
NC_000010.11:g.(?_53976705)_(54036062_?)del
NC_000011.10:g.(?_96535656)_(99184810_?)del
NC_000012.12:g.(?_28125337)_(28231096_?)del
NC_000013.11:g.(?_35011654)_(35113567_?)del
NC_000013.11:g.(?_35060502)_(35507109_?)del
NC_000016.10:g.(?_29506378)_(30180574_?)del
NC_000016.10:g.(?_6759006)_(6789572_?)del
NC_000017.11:g.(?_14183541)_(15573247_?)del
NC_000018.10:g.(?_10000)_(1543845_?)del
NC_000019.10:g.(?_17607118)_(17624457_?)del
NC_000020.11:g.(?_14490624)_(14573076_?)del
NC_000020.11:g.(?_15307783)_(15453889_?)del
NC_000020.11:g.(?_25564868)_(25611357_?)del
NC_000020.11:g.(?_42303583)_(42488707_?)del
NC_000020.11:g.(?_42461895)_(42648116_?)del
NC_000020.11:g.(?_42526267)_(42726111_?)del
NC_000020.11:g.(?_42579501)_(42691367_?)del
NC_000021.9:g.(?_38981673)_(41568791_?)del
NC_000022.11:g.(?_21959229)_(22218520_?)del
NC_000023.11:g.(?_31660226)_(31820401_?)del
NC_000023.11:g.(?_32345828)_(32377888_?)del
NC_000023.11:g.(?_44209146)_(46109507_?)del
NC_000023.11:g.(?_4692064)_(6048196_?)del
NM_000267.3(NF1):c.1721+21dup rs762735676
NM_000314.7(PTEN):c.-116dup rs1564801388
NM_000314.7(PTEN):c.-60dup rs1564801473
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr) rs797046134
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp) rs1561846159
NM_001029896.2(WDR45):c.225dup (p.Glu76fs) rs1602540235
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter)
NM_001068.3(TOP2B):c.172C>T (p.His58Tyr) rs886039770
NM_001080517.3(SETD5):c.2591dup (p.Ser865fs)
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs) rs1569305431
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter) rs1057518993
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe)
NM_001244810.1(FOXP1):c.1348+2T>C rs1057518999
NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs)
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr) rs1085307999
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_001369369.1(FOXN1):c.146C>T (p.Ser49Leu) rs797046135
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter) rs1569513495
NM_003165.4(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_004115.3(FGF14):c.486dup (p.Arg163fs) rs1566823361
NM_005445.3(SMC3):c.2413C>T (p.Arg805Cys) rs760111391
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs)
NM_006359.3(SLC9A6):c.1632-19_1632-3del rs1569525894
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser)
NM_014141.6(CNTNAP2):c.1778-1G>C rs1396313317
NM_014727.3(KMT2B):c.121G>T (p.Glu41Ter)
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter)
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp)
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter)
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly) rs1562851259
NM_017519.2(ARID1B):c.2653C>T (p.Arg885Ter) rs794727977
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_021008.3(DEAF1):c.664+2T>G rs1564950387
NM_025185.4(TANC2):c.1219+1G>A
NM_025185.4(TANC2):c.3196C>T (p.Arg1066Ter)
NM_025185.4(TANC2):c.547+1G>A
NM_057175.5(NAA15):c.55-2A>C
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) rs1060499733
NM_152722.5(HEPACAM):c.803+1G>A rs375712202
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg)
NM_173569.4(UBN2):c.2024+1G>A rs1585016242
Single allele

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