ClinVar Miner

List of variants in gene SHANK2 reported as uncertain significance for autism spectrum disorder

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_012309.4(SHANK2):c.*1022T>C rs1591470586
NM_012309.4(SHANK2):c.*1533dup rs575407872
NM_012309.4(SHANK2):c.*1545T>G rs371429377
NM_012309.4(SHANK2):c.*3067A>G rs1041628240
NM_012309.4(SHANK2):c.*3245T>C rs78378706
NM_012309.4(SHANK2):c.*3246G>A rs1357516309
NM_012309.4(SHANK2):c.*3475C>G rs568643386
NM_012309.4(SHANK2):c.*3947C>G rs147625536
NM_012309.4(SHANK2):c.*4029A>C rs1170275107
NM_012309.4(SHANK2):c.*585C>T rs568990616
NM_012309.4(SHANK2):c.*591C>A rs879971097
NM_012309.4(SHANK2):c.1197G>A (p.Ala399=) rs11237599
NM_012309.4(SHANK2):c.1289C>T (p.Ala430Val) rs113262375
NM_012309.4(SHANK2):c.136G>A (p.Gly46Ser) rs201642016
NM_012309.4(SHANK2):c.1510G>A (p.Gly504Ser) rs1590704391
NM_012309.4(SHANK2):c.1636C>G (p.Pro546Ala) rs1590704143
NM_012309.4(SHANK2):c.168G>A (p.Thr56=) rs150944234
NM_012309.4(SHANK2):c.1706G>A (p.Arg569His) rs146580493
NM_012309.4(SHANK2):c.1716C>T (p.Ile572=) rs782240808
NM_012309.4(SHANK2):c.1759C>T (p.Pro587Ser) rs149996975
NM_012309.4(SHANK2):c.191A>G (p.His64Arg) rs200995537
NM_012309.4(SHANK2):c.207+15C>T rs77851214
NM_012309.4(SHANK2):c.2453G>A (p.Arg818His) rs117843717
NM_012309.4(SHANK2):c.256C>A (p.Arg86=) rs377135249
NM_012309.4(SHANK2):c.3172C>T (p.Gln1058Ter) rs1591489959
NM_012309.4(SHANK2):c.332G>A (p.Arg111His) rs368652424
NM_012309.4(SHANK2):c.396C>A (p.Gly132=) rs148065633
NM_012309.4(SHANK2):c.397G>T (p.Val133Phe) rs1463147374
NM_012309.4(SHANK2):c.4228C>T (p.Pro1410Ser) rs1591487375
NM_012309.4(SHANK2):c.4676G>A (p.Ser1559Asn) rs1591486517
NM_012309.4(SHANK2):c.4906C>T (p.Arg1636Ter) rs1565526121
NM_012309.4(SHANK2):c.51C>T (p.Ser17=) rs376267466
NM_012309.4(SHANK2):c.576C>T (p.His192=) rs561132233
NM_012309.4(SHANK2):c.581C>T (p.Pro194Leu) rs782210973
NM_012309.4(SHANK2):c.613G>T (p.Ala205Ser) rs189053721
NM_012309.4(SHANK2):c.625G>A (p.Asp209Asn) rs183556625
NM_012309.4(SHANK2):c.722C>T (p.Ala241Val) rs749039621
NM_012309.4(SHANK2):c.744+8C>T rs529300603
NM_012309.4(SHANK2):c.745-15A>G rs1555094335
NM_012309.4(SHANK2):c.771A>G (p.Pro257=) rs200821952
NM_012309.4(SHANK2):c.7C>T (p.Arg3Cys) rs373379917
NM_012309.4(SHANK2):c.820G>A (p.Val274Ile) rs1555094289
NM_012309.4(SHANK2):c.900C>T (p.His300=) rs529058522
NM_012309.4(SHANK2):c.912+1134C>T rs1555093950
NM_012309.4(SHANK2):c.912+269C>T rs1555094158
NM_012309.5(SHANK2):c.1793G>A (p.Arg598His)
NM_012309.5(SHANK2):c.912+3227G>A rs1555093479
NM_012309.5(SHANK2):c.912+3911C>G rs1209216340
NM_012309.5(SHANK2):c.912+4231G>A rs1555093271
Single allele

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