ClinVar Miner

List of variants in gene SDHD reported as uncertain significance for PTEN hamartoma tumor syndrome

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP
NC_000011.10:g.(?_112086898)_(112094980_?)dup
NM_001276506.1(SDHD):c.118A>C (p.Ile40Leu) rs146276662
NM_003002.3(SDHD):c.101T>G (p.Phe34Cys) rs141802836
NM_003002.3(SDHD):c.107A>G (p.Gln36Arg) rs759143732
NM_003002.3(SDHD):c.113G>C (p.Arg38Pro) rs199901239
NM_003002.3(SDHD):c.116C>T (p.Pro39Leu)
NM_003002.3(SDHD):c.118A>G (p.Ile40Val) rs146276662
NM_003002.3(SDHD):c.121C>G (p.Pro41Ala) rs764006625
NM_003002.3(SDHD):c.131G>A (p.Cys44Tyr)
NM_003002.3(SDHD):c.13T>C (p.Trp5Arg) rs778202647
NM_003002.3(SDHD):c.140A>G (p.Gln47Arg) rs899706404
NM_003002.3(SDHD):c.146T>C (p.Ile49Thr) rs1555186808
NM_003002.3(SDHD):c.147A>G (p.Ile49Met)
NM_003002.3(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.3(SDHD):c.148C>T (p.His50Tyr) rs779249550
NM_003002.3(SDHD):c.158C>T (p.Pro53Leu) rs149516118
NM_003002.3(SDHD):c.167A>C (p.His56Pro) rs1555186817
NM_003002.3(SDHD):c.16A>G (p.Arg6Gly)
NM_003002.3(SDHD):c.18G>T (p.Arg6Ser)
NM_003002.3(SDHD):c.194A>G (p.His65Arg) rs780226013
NM_003002.3(SDHD):c.199_201delACTinsGCC (p.Thr67Ala) rs1555186981
NM_003002.3(SDHD):c.205G>A (p.Glu69Lys) rs202198133
NM_003002.3(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.3(SDHD):c.211G>A (p.Val71Ile)
NM_003002.3(SDHD):c.217A>G (p.Ser73Gly) rs748545223
NM_003002.3(SDHD):c.224T>C (p.Leu75Ser) rs1060503777
NM_003002.3(SDHD):c.244G>C (p.Ala82Pro) rs745559875
NM_003002.3(SDHD):c.248C>T (p.Ala83Val) rs370165653
NM_003002.3(SDHD):c.255G>C (p.Leu85Phe) rs199517389
NM_003002.3(SDHD):c.255G>T (p.Leu85Phe) rs199517389
NM_003002.3(SDHD):c.268_269delGCinsTT (p.Ala90Leu) rs1555187033
NM_003002.3(SDHD):c.269C>A (p.Ala90Glu) rs200255724
NM_003002.3(SDHD):c.269C>T (p.Ala90Val) rs200255724
NM_003002.3(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.3(SDHD):c.278A>G (p.Tyr93Cys) rs142135772
NM_003002.3(SDHD):c.281C>G (p.Ser94Cys) rs199754684
NM_003002.3(SDHD):c.288_290delTGC (p.Ala98del)
NM_003002.3(SDHD):c.28G>A (p.Val10Ile) rs1555186671
NM_003002.3(SDHD):c.290C>T (p.Ala97Val) rs756533450
NM_003002.3(SDHD):c.293C>T (p.Ala98Val) rs200980609
NM_003002.3(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.3(SDHD):c.314+5G>A
NM_003002.3(SDHD):c.314+6T>C rs1555187085
NM_003002.3(SDHD):c.315-3T>C rs1555187565
NM_003002.3(SDHD):c.315-3delT
NM_003002.3(SDHD):c.315-7_315-5delTCTinsAAA rs1060503775
NM_003002.3(SDHD):c.319C>T (p.Leu107Phe)
NM_003002.3(SDHD):c.327A>G (p.Gln109=)
NM_003002.3(SDHD):c.328G>A (p.Val110Ile) rs1060503771
NM_003002.3(SDHD):c.331G>A (p.Val111Ile) rs201869798
NM_003002.3(SDHD):c.335C>T (p.Thr112Ile) rs199869408
NM_003002.3(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003002.3(SDHD):c.351G>T (p.Gly117=)
NM_003002.3(SDHD):c.356C>A (p.Ala119Asp)
NM_003002.3(SDHD):c.35G>A (p.Gly12Asp) rs764384503
NM_003002.3(SDHD):c.375G>T (p.Lys125Asn) rs878854595
NM_003002.3(SDHD):c.37G>A (p.Ala13Thr) rs940936212
NM_003002.3(SDHD):c.37G>T (p.Ala13Ser) rs940936212
NM_003002.3(SDHD):c.386T>C (p.Leu129Ser)
NM_003002.3(SDHD):c.388G>C (p.Ala130Pro)
NM_003002.3(SDHD):c.38C>T (p.Ala13Val)
NM_003002.3(SDHD):c.397G>A (p.Ala133Thr) rs1060503774
NM_003002.3(SDHD):c.397G>C (p.Ala133Pro) rs1060503774
NM_003002.3(SDHD):c.398C>A (p.Ala133Asp) rs755584530
NM_003002.3(SDHD):c.400T>G (p.Leu134Val) rs200851392
NM_003002.3(SDHD):c.409G>C (p.Ala137Pro) rs1555187611
NM_003002.3(SDHD):c.40C>T (p.Leu14=) rs1060503772
NM_003002.3(SDHD):c.413G>T (p.Gly138Val) rs1401695686
NM_003002.3(SDHD):c.416T>G (p.Leu139Arg)
NM_003002.3(SDHD):c.421T>C (p.Tyr141His)
NM_003002.3(SDHD):c.428A>G (p.Asn143Ser) rs770909248
NM_003002.3(SDHD):c.433C>A (p.His145Asn) rs121908984
NM_003002.3(SDHD):c.453A>C (p.Lys151Asn) rs761953172
NM_003002.3(SDHD):c.458T>C (p.Val153Ala) rs1555187644
NM_003002.3(SDHD):c.464T>A (p.Met155Lys) rs1060503776
NM_003002.3(SDHD):c.46G>C (p.Gly16Arg) rs1555186687
NM_003002.3(SDHD):c.46G>T (p.Gly16Cys) rs1555186687
NM_003002.3(SDHD):c.473_*3dupAGCTCTGACCT rs878854596
NM_003002.3(SDHD):c.478T>A (p.Ter160Arg) rs1555187655
NM_003002.3(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_003002.3(SDHD):c.51A>C (p.Arg17=) rs199890548
NM_003002.3(SDHD):c.52+6G>A rs1416678757
NM_003002.3(SDHD):c.53C>T (p.Ala18Val) rs192332761
NM_003002.3(SDHD):c.5C>G (p.Ala2Gly)
NM_003002.3(SDHD):c.73G>T (p.Val25Leu) rs878854597
NM_003002.3(SDHD):c.7G>T (p.Val3Phe) rs1555186656
NM_003002.3(SDHD):c.80G>A (p.Arg27Lys) rs200671534
NM_003002.3(SDHD):c.82C>A (p.Pro28Thr) rs541477171
NM_003002.3(SDHD):c.82C>G (p.Pro28Ala) rs541477171
NM_003002.3(SDHD):c.85G>C (p.Ala29Pro) rs776930864
NM_003002.3(SDHD):c.86C>T (p.Ala29Val) rs1555186774

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