ClinVar Miner

List of variants in gene GDF2 studied for capillary malformation

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP
NC_000010.10:g.(?_48413558)_(48416713_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)dup
NM_016204.4(GDF2):c.1005C>T (p.Asn335=)
NM_016204.4(GDF2):c.1008C>T (p.Phe336=) rs1041318325
NM_016204.4(GDF2):c.1017C>T (p.Ile339=) rs148730910
NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys) rs1555209063
NM_016204.4(GDF2):c.1040C>T (p.Ala347Val) rs782452633
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) rs1486994359
NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys) rs1200646207
NM_016204.4(GDF2):c.1068T>C (p.Cys356=) rs781876898
NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser)
NM_016204.4(GDF2):c.1098C>T (p.Asp366=) rs781981224
NM_016204.4(GDF2):c.1101T>C (p.Asp367=)
NM_016204.4(GDF2):c.1104G>A (p.Val368=)
NM_016204.4(GDF2):c.1112C>T (p.Thr371Met) rs782198119
NM_016204.4(GDF2):c.1125C>A (p.Ile375=)
NM_016204.4(GDF2):c.1207G>A (p.Val403Ile)
NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys) rs782137039
NM_016204.4(GDF2):c.1266C>T (p.Ser422=)
NM_016204.4(GDF2):c.1267G>A (p.Val423Met) rs1358534877
NM_016204.4(GDF2):c.126G>A (p.Gly42=)
NM_016204.4(GDF2):c.1281G>T (p.Gly427=) rs781842184
NM_016204.4(GDF2):c.1290G>A (p.Ter430=) rs139568056
NM_016204.4(GDF2):c.18G>A (p.Leu6=)
NM_016204.4(GDF2):c.198C>T (p.Phe66=)
NM_016204.4(GDF2):c.203G>A (p.Arg68His) rs200330818
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) rs200330818
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu)
NM_016204.4(GDF2):c.252G>A (p.Glu84=)
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu) rs199804679
NM_016204.4(GDF2):c.286T>C (p.Tyr96His) rs142466901
NM_016204.4(GDF2):c.303G>A (p.Ser101=)
NM_016204.4(GDF2):c.314C>T (p.Ala105Val)
NM_016204.4(GDF2):c.315G>A (p.Ala105=)
NM_016204.4(GDF2):c.326T>C (p.Val109Ala) rs782118500
NM_016204.4(GDF2):c.346+10C>T rs117345807
NM_016204.4(GDF2):c.348T>C (p.Asp116=)
NM_016204.4(GDF2):c.34C>T (p.Leu12=) rs61758973
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) rs180821007
NM_016204.4(GDF2):c.40_48dup (p.Ser14_Leu16dup)
NM_016204.4(GDF2):c.478G>A (p.Val160Met) rs144705412
NM_016204.4(GDF2):c.615G>A (p.Leu205=)
NM_016204.4(GDF2):c.619G>T (p.Val207Leu) rs148262680
NM_016204.4(GDF2):c.637C>T (p.Arg213Cys) rs1555208917
NM_016204.4(GDF2):c.646C>T (p.Arg216Trp)
NM_016204.4(GDF2):c.64G>A (p.Gly22Arg) rs1555208692
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) rs142402214
NM_016204.4(GDF2):c.654C>T (p.Asp218=)
NM_016204.4(GDF2):c.69G>A (p.Lys23=)
NM_016204.4(GDF2):c.69G>T (p.Lys23Asn)
NM_016204.4(GDF2):c.711C>T (p.Cys237=) rs146775536
NM_016204.4(GDF2):c.714C>T (p.Asp238=) rs782288867
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993
NM_016204.4(GDF2):c.732C>T (p.Val244=) rs145385373
NM_016204.4(GDF2):c.73C>T (p.Leu25=) rs200760960
NM_016204.4(GDF2):c.740G>T (p.Gly247Val) rs369219783
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) rs1555208696
NM_016204.4(GDF2):c.774C>T (p.Ser258=)
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016204.4(GDF2):c.792G>C (p.Gly264=) rs781907754
NM_016204.4(GDF2):c.847G>A (p.Val283Met) rs138904328
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410
NM_016204.4(GDF2):c.89G>A (p.Arg30Gln)
NM_016204.4(GDF2):c.89G>C (p.Arg30Pro) rs368827442
NM_016204.4(GDF2):c.900C>T (p.His300=)
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
NM_016204.4(GDF2):c.930G>A (p.Ala310=)
NM_016204.4(GDF2):c.933G>A (p.Gly311=)
NM_016204.4(GDF2):c.936G>A (p.Ser312=)
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) rs559992144
NM_016204.4(GDF2):c.963C>A (p.Ala321=) rs370309301
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734

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