ClinVar Miner

List of variants reported as pathogenic for autism (disease)

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP
16p11.2 recurrent region (BP4-BP5)
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432)
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896)
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505)
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)
GRCh37/hg19 16p11.2(chr16:29042050-30199025)
GRCh37/hg19 16p11.2(chr16:29595483-30199713)
GRCh37/hg19 16p11.2(chr16:29673203-30133233)
GRCh37/hg19 16p11.2(chr16:29673203-30199713)
GRCh37/hg19 16p11.2(chr16:29678569-30199402)
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)
GRCh37/hg19 Xp22.31(chrX:6488721-8097511)
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs) rs1057518658
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_005650.3(TCF20):c.1810_1811del (p.Val604fs) rs1569151204
NM_005650.3(TCF20):c.2594C>G (p.Ser865Ter) rs1569149539
NM_006593.4(TBR1):c.1165A>G (p.Lys389Glu) rs1553510677
NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.813G>T (p.Trp271Cys) rs1559060428
NM_012309.4(SHANK2):c.1896dup (p.Asp633fs) rs1555013332
NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile) rs1057519440
NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)
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_032682.5(FOXP1):c.1348+1G>C rs1559619762
NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) rs1568070621
Single allele
TBR1, 1-BP DEL, C
TBR1, 1-BP INS, C
TBR1, ASN374HIS
TBR1, LYS228GLU

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