ClinVar Miner

List of variants reported as pathogenic for autism spectrum disorder

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP
15q11.2-12duplication
15q13.3duplication
15q25.3duplication
1q42.2deletion
22q11.21deletion
2q37.3deletion
7q31.32deletion
7q32.3duplication
7q35 duplication
9p24.1deletion
GRCh37/hg19 15q11.2(chr15:22765628-23085096)
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
GRCh37/hg19 16p11.2(chr16:29673954-30198600)
GRCh37/hg19 16p13.3(chr16:3784414-3821324)
GRCh37/hg19 22q13.33(chr22:51123491-51219009)
GRCh37/hg19 4p16.3(chr4:374557-745174)
GRCh37/hg19 6q21(chr6:107331934-108121759)
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)
GRCh37/hg19 9p24.3(chr9:204193-340142)
GRCh37/hg19 Xp22.31(chrX:6488721-8097511)
NC_000002.12:g.(?_148157591)_(148226058_?)del
NC_000002.12:g.(?_50496341)_(51317388_?)del
NC_000002.12:g.(?_51001206)_(51200739_?)del
NC_000015.10:g.(?_22444190)_(23226874_?)del
NC_000015.10:g.(?_22570470)_(23226874_?)del
NC_000015.10:g.(?_22673143)_(23226874_?)del
NC_000015.10:g.(?_22751662)_(23126124_?)del
NC_000015.10:g.(?_22770232)_(23126124_?)del
NC_000015.10:g.(?_30568981)_(32151126_?)del
NC_000015.10:g.(?_30568981)_(32318632_?)del
NC_000016.10:g.(?_14757009)_(16763184_?)del
NC_000016.10:g.(?_29480853)_(30254620_?)del
NC_000017.11:g.(?_16770855)_(20585863_?)del
NC_000017.11:g.(?_36143765)_(37995300_?)del
NC_000017.11:g.(?_36446252)_(37887875_?)del
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) rs1571164333
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) rs121912562
NM_001032221.6(STXBP1):c.1359+1G>T rs796053370
NM_001039523.3(CHRNA1):c.1396G>A (p.Gly466Arg) rs768407867
NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs) rs1057518658
NM_001170629.2(CHD8):c.2345del (p.His782fs) rs886039692
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter) rs1131691548
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter)
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs)
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_002397.5(MEF2C):c.403-1G>T rs1561824498
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_005650.3(TCF20):c.1810_1811del (p.Val604fs) rs1569151204
NM_005650.3(TCF20):c.2594C>G (p.Ser865Ter) rs1569149539
NM_006920.6(SCN1A):c.602+1G>A
NM_013275.6(ANKRD11):c.3138T>A (p.Cys1046Ter) rs1567574466
NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile) rs1057519440
NM_018328.4(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) rs1555740650
NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs) rs1555741826
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) rs1555740394
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_032682.5(FOXP1):c.1348+1G>C rs1559619762
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_133266.5(SHANK2):c.2540_2541del (p.Leu846_Ser847insTer) rs1565527302
NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) rs1568070621
Single allele

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