ClinVar for Gene (Select 25913) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381260	NC_000007.13:g.(?_124532437)_(124537268_?)dup	POT1	Duplication	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3372943	NM_015450.3(POT1):c.1226C>T (p.Pro409Leu)	POT1 (P278L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367266	NM_015450.3(POT1):c.608T>C (p.Leu203Pro)	POT1 (L203P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361058	NM_015450.3(POT1):c.1106A>T (p.Tyr369Phe)	POT1 (Y238F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343697	NM_015450.3(POT1):c.130T>C (p.Cys44Arg)	POT1 (C44R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3343580	NM_015450.3(POT1):c.1314T>C (p.Phe438=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3339621	NC_000007.13:g.(124532435_124537218)_(124538429_124555627)dup	POT1	Duplication	not specified	GUncertain significance
Select item 3308988	NM_015450.3(POT1):c.1612C>T (p.Leu538Phe)	POT1 (L407F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308986	NM_015450.3(POT1):c.1036A>G (p.Thr346Ala)	POT1 (T215A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308985	NM_015450.3(POT1):c.879A>C (p.Glu293Asp)	POT1 (E293D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308984	NM_015450.3(POT1):c.1017T>C (p.Asp339=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308983	NM_015450.3(POT1):c.1376C>T (p.Thr459Ile)	POT1 (T459I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308982	NM_015450.3(POT1):c.1193A>G (p.Asp398Gly)	POT1 (D267G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308981	NM_015450.3(POT1):c.1436G>A (p.Gly479Asp)	POT1 (G479D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308980	NM_015450.3(POT1):c.11T>G (p.Val4Gly)	POT1 (V4G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308979	NM_015450.3(POT1):c.1535T>C (p.Ile512Thr)	POT1 (I381T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308978	NM_015450.3(POT1):c.1096T>G (p.Leu366Val)	POT1 (L235V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308977	NM_015450.3(POT1):c.1033A>G (p.Arg345Gly)	POT1 (R214G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308975	NM_015450.3(POT1):c.752T>C (p.Met251Thr)	POT1 (M120T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308974	NM_015450.3(POT1):c.1365A>T (p.Ile455=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308973	NM_015450.3(POT1):c.76T>A (p.Tyr26Asn)	POT1 (Y26N)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308972	NM_015450.3(POT1):c.1627G>A (p.Val543Ile)	POT1 (V543I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308971	NM_015450.3(POT1):c.1403A>G (p.Asn468Ser)	POT1 (N337S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308970	NM_015450.3(POT1):c.1543C>T (p.Leu515=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308969	NM_015450.3(POT1):c.238C>A (p.Arg80Ser)	POT1 (R80S)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308968	NM_015450.3(POT1):c.125-3C>T	POT1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308966	NM_015450.3(POT1):c.127T>A (p.Tyr43Asn)	POT1 (Y43N)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308965	NM_015450.3(POT1):c.1366G>A (p.Glu456Lys)	POT1 (E325K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308964	NM_015450.3(POT1):c.601C>T (p.Leu201Phe)	POT1 (L201F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308963	NM_015450.3(POT1):c.470A>T (p.Gln157Leu)	POT1 (Q157L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308962	NM_015450.3(POT1):c.1414A>G (p.Ser472Gly)	POT1 (S472G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308960	NM_015450.3(POT1):c.1792+3A>G	POT1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308959	NM_015450.3(POT1):c.318T>C (p.Phe106=)	POT1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308958	NM_015450.3(POT1):c.1232T>C (p.Val411Ala)	POT1 (V280A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308957	NM_015450.3(POT1):c.1056G>T (p.Leu352Phe)	POT1 (L221F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308956	NM_015450.3(POT1):c.1410T>C (p.Phe470=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308955	NM_015450.3(POT1):c.1330A>G (p.Ile444Val)	POT1 (I444V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308953	NM_015450.3(POT1):c.1689C>T (p.Asp563=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308952	NM_015450.3(POT1):c.1684T>C (p.Ser562Pro)	POT1 (S431P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308951	NM_015450.3(POT1):c.1168delinsTTC (p.Glu390fs)	POT1 (E259fs +1 more)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3308949	NM_015450.3(POT1):c.950-2A>G	POT1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308948	NM_015450.3(POT1):c.1522A>G (p.Ser508Gly)	POT1 (S377G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308946	NM_015450.3(POT1):c.160A>C (p.Asn54His)	POT1 (N54H)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308944	NM_015450.3(POT1):c.969A>G (p.Leu323=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308942	NM_015450.3(POT1):c.237T>C (p.Val79=)	POT1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308941	NM_015450.3(POT1):c.880T>A (p.Ser294Thr)	POT1 (S163T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308938	NM_015450.3(POT1):c.657C>T (p.Asp219=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3256475	NM_015450.3(POT1):c.256-37_256-34del	POT1	Deletion (intron variant)	not specified	GLikely benign
Select item 3256473	NM_015450.3(POT1):c.1369+28A>G	POT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256472	NM_015450.3(POT1):c.1594+28T>G	POT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256471	NM_015450.3(POT1):c.1595-33C>A	POT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256470	NM_015450.3(POT1):c.1623_1624del (p.Phe542fs)	POT1 (F411fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3256469	NM_015450.3(POT1):c.1687-33del	POT1	Deletion (intron variant)	not specified	GLikely benign
Select item 3256468	NM_015450.3(POT1):c.1687-22del	POT1	Deletion (intron variant)	not specified	GLikely benign
Select item 3256467	NM_015450.3(POT1):c.1792+19A>G	POT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256466	NM_015450.3(POT1):c.1792+40T>C	POT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3245824	NC_000007.13:g.(?_124532300)_(124537227_?)dup	POT1	Duplication	Tumor predisposition syndrome 3	GUncertain significance
Select item 3245823	NC_000007.14:g.(?_124892256)_(124897173_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GPathogenic
Select item 3245821	NC_000007.13:g.(?_124491916)_(124537227_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GPathogenic
Select item 3245820	NC_000007.13:g.(?_124464016)_(124469416_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GUncertain significance
Select item 3245819	NC_000007.13:g.(?_124510955)_(124511105_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GPathogenic
Select item 3245818	NC_000007.13:g.(?_124464016)_(124464148_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GUncertain significance
Select item 3226696	NM_015450.3(POT1):c.976G>T (p.Val326Leu)	POT1 (V195L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226695	NM_015450.3(POT1):c.926C>T (p.Ser309Leu)	POT1 (S178L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226694	NM_015450.3(POT1):c.904C>T (p.His302Tyr)	POT1 (H171Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226693	NM_015450.3(POT1):c.9+5G>C	POT1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226692	NM_015450.3(POT1):c.794T>C (p.Leu265Pro)	POT1 (L134P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226691	NM_015450.3(POT1):c.78T>C (p.Tyr26=)	POT1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226690	NM_015450.3(POT1):c.757T>C (p.Ser253Pro)	POT1 (S122P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226689	NM_015450.3(POT1):c.698T>C (p.Leu233Pro)	POT1 (L102P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226688	NM_015450.3(POT1):c.694T>A (p.Ser232Thr)	POT1 (S101T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226687	NM_015450.3(POT1):c.670G>C (p.Asp224His)	POT1 (D224H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226686	NM_015450.3(POT1):c.634C>A (p.Arg212=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226685	NM_015450.3(POT1):c.619T>C (p.Leu207=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226684	NM_015450.3(POT1):c.613G>C (p.Gly205Arg)	POT1 (G205R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226683	NM_015450.3(POT1):c.611A>C (p.Glu204Ala)	POT1 (E204A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226682	NM_015450.3(POT1):c.580T>C (p.Trp194Arg)	POT1 (W194R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226681	NM_015450.3(POT1):c.547-2del	POT1	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226680	NM_015450.3(POT1):c.546+4C>T	POT1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226679	NM_015450.3(POT1):c.440C>A (p.Ser147Tyr)	POT1 (S147Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226678	NM_015450.3(POT1):c.435A>G (p.Ser145=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226677	NM_015450.3(POT1):c.-39G>T	POT1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226676	NM_015450.3(POT1):c.328T>C (p.Leu110=)	POT1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226675	NM_015450.3(POT1):c.326C>G (p.Thr109Ser)	POT1 (T109S)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226674	NM_015450.3(POT1):c.312G>A (p.Leu104=)	POT1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226673	NM_015450.3(POT1):c.299G>A (p.Gly100Asp)	POT1 (G100D)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226672	NM_015450.3(POT1):c.284G>T (p.Gly95Val)	POT1 (G95V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226671	NM_015450.3(POT1):c.282G>A (p.Gln94=)	POT1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226670	NM_015450.3(POT1):c.279T>A (p.Thr93=)	POT1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226669	NM_015450.3(POT1):c.216T>C (p.Ile72=)	POT1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226668	NM_015450.3(POT1):c.187A>G (p.Ser63Gly)	POT1 (S63G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226667	NM_015450.3(POT1):c.187A>C (p.Ser63Arg)	POT1 (S63R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226665	NM_015450.3(POT1):c.1738C>G (p.Gln580Glu)	POT1 (Q449E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226664	NM_015450.3(POT1):c.1720C>G (p.Leu574Val)	POT1 (L443V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226663	NM_015450.3(POT1):c.1594+1G>T	POT1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3226662	NM_015450.3(POT1):c.158C>A (p.Thr53Lys)	POT1 (T53K)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226661	NM_015450.3(POT1):c.1576C>G (p.Pro526Ala)	POT1 (P395A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226660	NM_015450.3(POT1):c.1558G>A (p.Asp520Asn)	POT1 (D389N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226659	NM_015450.3(POT1):c.1506-1G>T	POT1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3226658	NM_015450.3(POT1):c.1472C>A (p.Pro491Gln)	POT1 (P360Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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