Related gene-specific medical variations for Gene (Select 25913) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2689815	NM_015450.3(POT1):c.-154+1656C>T	POT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2682051	NM_015450.3(POT1):c.597A>C (p.Gln199His)	POT1 (Q199H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2671911	NM_015450.3(POT1):c.739A>T (p.Lys247Ter)	POT1 (K116* +1 more)	Single nucleotide variant (nonsense +1 more)	Tumor predisposition syndrome 3	GLikely pathogenic
Select item 1809571	NM_015450.3(POT1):c.389A>G (p.His130Arg)	POT1 (H130R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1691879	NM_015450.3(POT1):c.-412+10A>G	LOC113687193, POT1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1320285	NM_015450.2:c.-154+5928_9+618dup	POT1	Duplication	Tumor predisposition syndrome 3	GUncertain significance
Select item 870276	Single allele	POT1	Insertion	Tumor predisposition syndrome 3	GUncertain significance