"GeneDx"[submitter] AND "POT1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 1203802	NM_015450.3(POT1):c.*89A>G	POT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 475068	NM_015450.3(POT1):c.1884A>C (p.Thr628=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 475067	NM_015450.3(POT1):c.1870A>G (p.Ile624Val)	POT1 (I624V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 820215	NM_015450.3(POT1):c.1865A>G (p.Tyr622Cys)	POT1 (Y622C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 541877	NM_015450.3(POT1):c.1864T>C (p.Tyr622His)	POT1 (Y622H +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 209095	NM_015450.3(POT1):c.1851_1852del (p.Asp617fs)	POT1 (D486fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 475066	NM_015450.3(POT1):c.1841A>G (p.Asn614Ser)	POT1 (N614S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2198069	NM_015450.3(POT1):c.1836C>T (p.Val612=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 475064	NM_015450.3(POT1):c.1834G>A (p.Val612Ile)	POT1 (V612I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 486133	NM_015450.3(POT1):c.1814G>C (p.Cys605Ser)	POT1 (C605S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 449494	NM_015450.3(POT1):c.1810G>A (p.Glu604Lys)	POT1 (E604K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1473350	NM_015450.3(POT1):c.1805G>T (p.Trp602Leu)	POT1 (W471L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 475062	NM_015450.3(POT1):c.1803G>A (p.Pro601=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 475061	NM_015450.3(POT1):c.1797A>G (p.Ala599=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 950174	NM_015450.3(POT1):c.1793A>G (p.Asp598Gly)	POT1 (D598G +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 1204881	NM_015450.3(POT1):c.1793-25G>A	POT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1192050	NM_015450.3(POT1):c.1793-303A>G	POT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677020	NM_015450.3(POT1):c.1792+209T>A	POT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206667	NM_015450.3(POT1):c.1792+50A>G	POT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 958844	NM_015450.3(POT1):c.1792+1G>A	POT1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1465310	NM_015450.3(POT1):c.1778C>T (p.Pro593Leu)	POT1 (P593L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 577917	NM_015450.3(POT1):c.1766T>C (p.Met589Thr)	POT1 (M589T +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 963682	NM_015450.3(POT1):c.1733A>G (p.Asp578Gly)	POT1 (D578G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1059546	NM_015450.3(POT1):c.1732G>A (p.Asp578Asn)	POT1 (D447N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 846954	NM_015450.3(POT1):c.1726G>A (p.Asp576Asn)	POT1 (D445N +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 949687	NM_015450.3(POT1):c.1717G>A (p.Val573Ile)	POT1 (V442I +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 1017328	NM_015450.3(POT1):c.1711T>G (p.Ser571Ala)	POT1 (S440A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 819867	NM_015450.3(POT1):c.1702A>G (p.Ile568Val)	POT1 (I437V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 475057	NM_015450.3(POT1):c.1687-5T>A	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3 +3 more	GBenign
Select item 677019	NM_015450.3(POT1):c.1687-98T>G	POT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298048	NM_015450.3(POT1):c.1686+215A>G	POT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 475056	NM_015450.3(POT1):c.1686+4A>G	POT1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1398790	NM_015450.3(POT1):c.1632G>A (p.Met544Ile)	POT1 (M544I +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 819671	NM_015450.3(POT1):c.1617A>T (p.Gln539His)	POT1 (Q408H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 582694	NM_015450.3(POT1):c.1612C>G (p.Leu538Val)	POT1 (L538V +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 516009	NM_015450.3(POT1):c.1595-11dup	POT1	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 677025	NM_015450.3(POT1):c.1595-111A>G	POT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200201	NM_015450.3(POT1):c.1595-167A>G	POT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270235	NM_015450.3(POT1):c.1595-254A>G	POT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677017	NM_015450.3(POT1):c.1594+41T>A	POT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 475052	NM_015450.3(POT1):c.1569G>A (p.Ser523=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 655928	NM_015450.3(POT1):c.1565C>T (p.Thr522Ile)	POT1 (T391I +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +3 more	GUncertain significance
Select item 475049	NM_015450.3(POT1):c.1562A>G (p.Lys521Arg)	POT1 (K521R +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 486139	NM_015450.3(POT1):c.1559A>G (p.Asp520Gly)	POT1 (D520G +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 651671	NM_015450.3(POT1):c.1555G>T (p.Val519Phe)	POT1 (V388F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 475048	NM_015450.3(POT1):c.1555G>A (p.Val519Ile)	POT1 (V519I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 475047	NM_015450.3(POT1):c.1534A>G (p.Ile512Val)	POT1 (I512V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1019856	NM_015450.3(POT1):c.1523G>A (p.Ser508Asn)	POT1 (S377N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1774307	NM_015450.3(POT1):c.1515G>C (p.Gln505His)	POT1 (Q505H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1312624	NM_015450.3(POT1):c.1506-16_1506-13del	POT1	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1195652	NM_015450.3(POT1):c.1506-80_1506-79del	POT1	Deletion (intron variant)	not provided	GLikely benign
Select item 677016	NM_015450.3(POT1):c.1506-191C>T	POT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272387	NM_015450.3(POT1):c.1505+7TGTTT[7]	POT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1183057	NM_015450.3(POT1):c.1505+7TGTTT[5]	POT1	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 571862	NM_015450.3(POT1):c.1505+3A>G	POT1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 935652	NM_015450.3(POT1):c.1494A>G (p.Ile498Met)	POT1 (I367M +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 819368	NM_015450.3(POT1):c.1490C>A (p.Thr497Lys)	POT1 (T497K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 576671	NM_015450.3(POT1):c.1482A>G (p.Ile494Met)	POT1 (I494M +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +3 more	GUncertain significance
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
Select item 574289	NM_015450.3(POT1):c.1442A>G (p.Glu481Gly)	POT1 (E481G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 486141	NM_015450.3(POT1):c.1441G>A (p.Glu481Lys)	POT1 (E481K +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 475044	NM_015450.3(POT1):c.1416T>G (p.Ser472Arg)	POT1 (S472R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 682301	NM_015450.3(POT1):c.1407G>A (p.Lys469=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +1 more	GLikely benign
Select item 475043	NM_015450.3(POT1):c.1401G>A (p.Ser467=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 837307	NM_015450.3(POT1):c.1400C>A (p.Ser467Ter)	POT1 (S336* +1 more)	Single nucleotide variant (nonsense +1 more)	Tumor predisposition syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 1302726	NM_015450.3(POT1):c.1381A>C (p.Ser461Arg)	POT1 (S330R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 851141	NM_015450.3(POT1):c.1372G>A (p.Gly458Ser)	POT1 (G327S +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 678416	NM_015450.3(POT1):c.1370-150A>G	POT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677015	NM_015450.3(POT1):c.1369+158A>G	POT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301488	NM_015450.3(POT1):c.1369G>T (p.Gly457Ter)	POT1 (G326* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 475039	NM_015450.3(POT1):c.1363A>G (p.Ile455Val)	POT1 (I455V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 475038	NM_015450.3(POT1):c.1360T>C (p.Leu454=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 953254	NM_015450.3(POT1):c.1337C>T (p.Pro446Leu)	POT1 (P315L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1770041	NM_015450.3(POT1):c.1327G>T (p.Gly443Cys)	POT1 (G312C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 655638	NM_015450.3(POT1):c.1322A>C (p.Asn441Thr)	POT1 (N441T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 651734	NM_015450.3(POT1):c.1315G>T (p.Val439Leu)	POT1 (V439L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 945264	NM_015450.3(POT1):c.1300G>C (p.Val434Leu)	POT1 (V303L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 475036	NM_015450.3(POT1):c.1287A>C (p.Gln429His)	POT1 (Q429H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2505616	NM_015450.3(POT1):c.1267A>G (p.Ile423Val)	POT1 (I292V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2499793	NM_015450.3(POT1):c.1262C>G (p.Ser421Ter)	POT1 (S290* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 818723	NM_015450.3(POT1):c.1257T>C (p.Tyr419=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 574175	NM_015450.3(POT1):c.1256A>G (p.Tyr419Cys)	POT1 (Y419C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 850461	NM_015450.3(POT1):c.1255T>C (p.Tyr419His)	POT1 (Y419H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 436388	NM_015450.3(POT1):c.1228G>C (p.Asp410His)	POT1 (D410H +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GConflicting classifications of pathogenicity
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 818618	NM_015450.3(POT1):c.1217C>T (p.Thr406Ile)	POT1 (T406I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 475031	NM_015450.3(POT1):c.1214C>T (p.Ala405Val)	POT1 (A405V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 475029	NM_015450.3(POT1):c.1211G>T (p.Gly404Val)	POT1 (G404V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 1001766	NM_015450.3(POT1):c.1205A>G (p.Gln402Arg)	POT1 (Q271R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 582415	NM_015450.3(POT1):c.1199T>C (p.Ile400Thr)	POT1 (I400T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 486129	NM_015450.3(POT1):c.1186G>A (p.Asp396Asn)	POT1 (D396N +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 475028	NM_015450.3(POT1):c.1185C>T (p.Gly395=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 541870	NM_015450.3(POT1):c.1183G>A (p.Gly395Ser)	POT1 (G395S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 475027	NM_015450.3(POT1):c.1178A>G (p.His393Arg)	POT1 (H393R +1 more)	Single nucleotide variant (missense variant +1 more)	POT1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 475026	NM_015450.3(POT1):c.1164-1G>A	POT1	Single nucleotide variant (splice acceptor variant)	Tumor predisposition syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 516586	NM_015450.3(POT1):c.1164-13C>T	POT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 677014	NM_015450.3(POT1):c.1164-171A>T	POT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677013	NM_015450.3(POT1):c.1164-188A>T	POT1	Single nucleotide variant (intron variant)	not provided	GBenign

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