ClinVar Miner

List of variants in gene TBC1D24 reported as pathogenic

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Total variants: 44
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HGVS dbSNP
NC_000016.9:g.(?_2546130)_(2550979_?)del
NM_001199107.1(TBC1D24):c.969_970delGT (p.Ser324Thrfs) rs398122941
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) rs1567413218
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458
NM_001199107.2(TBC1D24):c.1206+5G>A rs398122968
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) rs1567411053
NM_001199107.2(TBC1D24):c.1460dup (p.His487fs) rs797044549
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999
NM_001199107.2(TBC1D24):c.1501G>A (p.Gly501Arg)
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) rs1555501140
NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu) rs878853232
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg) rs797044547
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) rs1567411469
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) rs763626059
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) rs397514714
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866
NM_001199107.2(TBC1D24):c.557del (p.Leu186fs) rs1131691737
NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) rs201257588
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) rs201257588
NM_001199107.2(TBC1D24):c.619C>T (p.Gln207Ter) rs770107050
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.691_700delinsCTT (p.Val231fs) rs796053407
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965
NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) rs267607104
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro) rs199700840
NM_001199107.2(TBC1D24):c.971C>A (p.Ser324Ter) rs1567412736
NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) rs797044548
NM_020705.2(TBC1D24):c.[338C>A];[476T>C]

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