Related gene-specific medical variations for Gene (Select 727677) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309052	NM_001159542.3(POU5F1B):c.1063C>T (p.Pro355Ser)	CASC8, POU5F1B (P355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309051	NM_001159542.3(POU5F1B):c.386T>C (p.Leu129Pro)	CASC8, POU5F1B (L129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309050	NM_001159542.3(POU5F1B):c.595A>G (p.Lys199Glu)	CASC8, POU5F1B (K199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309049	NM_001159542.3(POU5F1B):c.323A>G (p.Asn108Ser)	CASC8, POU5F1B (N108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216970	NM_001159542.3(POU5F1B):c.962C>G (p.Thr321Ser)	CASC8, POU5F1B (T321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216969	NM_001159542.3(POU5F1B):c.73G>C (p.Ala25Pro)	CASC8, POU5F1B (A25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216966	NM_001159542.3(POU5F1B):c.449C>G (p.Ala150Gly)	CASC8, POU5F1B (A150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216965	NM_001159542.3(POU5F1B):c.341C>G (p.Pro114Arg)	POU5F1B, CASC8 (P114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216964	NM_001159542.3(POU5F1B):c.265G>A (p.Gly89Ser)	CASC8, POU5F1B (G89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658808	NM_001159542.3(POU5F1B):c.1044C>T (p.Ser348=)	CASC8, POU5F1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609106	NM_001159542.3(POU5F1B):c.161G>C (p.Gly54Ala)	CASC8, POU5F1B (G54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596205	NM_001159542.3(POU5F1B):c.664A>G (p.Lys222Glu)	CASC8, POU5F1B (K222E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559832	NM_001159542.3(POU5F1B):c.168G>T (p.Glu56Asp)	CASC8, POU5F1B (E56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529461	NM_001159542.3(POU5F1B):c.557G>C (p.Arg186Pro)	CASC8, POU5F1B (R186P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472555	NM_001159542.3(POU5F1B):c.304G>A (p.Gly102Arg)	CASC8, POU5F1B (G102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405022	NM_001159542.3(POU5F1B):c.344G>A (p.Cys115Tyr)	CASC8, POU5F1B (C115Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389405	NM_001159542.3(POU5F1B):c.421G>T (p.Ala141Ser)	CASC8, POU5F1B (A141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371625	NM_001159542.3(POU5F1B):c.212G>C (p.Gly71Ala)	CASC8, POU5F1B (G71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361365	NM_001159542.3(POU5F1B):c.841C>T (p.Arg281Cys)	CASC8, POU5F1B (R281C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359375	NM_001159542.3(POU5F1B):c.958G>C (p.Gly320Arg)	CASC8, POU5F1B (G320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350664	NM_001159542.3(POU5F1B):c.355C>G (p.Pro119Ala)	CASC8, POU5F1B (P119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302247	NM_001159542.3(POU5F1B):c.679A>G (p.Met227Val)	CASC8, POU5F1B (M227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286800	NM_001159542.3(POU5F1B):c.875C>G (p.Ala292Gly)	CASC8, POU5F1B (A292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245688	NM_001159542.3(POU5F1B):c.530A>C (p.Lys177Thr)	CASC8, POU5F1B (K177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236834	NM_001159542.3(POU5F1B):c.738G>T (p.Glu246Asp)	CASC8, POU5F1B (E246D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979045	NC_000008.11:g.127467731T>C	CASC8	Single nucleotide variant	Familial prostate cancer	Gassociation
Select item 979044	NC_000008.11:g.127325028_127325029dup	CASC21, CASC8	Duplication	Familial prostate cancer	Gassociation

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Links from Gene

Items: 27