Related gene-specific medical variations for Gene (Select 1234) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140095	NM_001394783.1(CCR5):c.980T>C (p.Phe327Ser)	CCR5, CCR5AS (F327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140094	NM_001394783.1(CCR5):c.641A>G (p.Tyr214Cys)	CCR5, CCR5AS (Y214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140093	NM_001394783.1(CCR5):c.322T>C (p.Tyr108His)	CCR5, CCR5AS (Y108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140092	NM_001394783.1(CCR5):c.1031G>A (p.Gly344Glu)	CCR5, CCR5AS (G344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058502	NM_001394783.1(CCR5):c.69C>A (p.Ile23=)	CCR5, CCR5AS	Single nucleotide variant (synonymous variant)	CCR5-related condition	GLikely benign
Select item 3057661	NM_001394783.1(CCR5):c.741C>T (p.Phe247=)	CCR5, CCR5AS	Single nucleotide variant (synonymous variant)	CCR5-related condition	GLikely benign
Select item 3045114	NM_001394783.1(CCR5):c.423G>A (p.Thr141=)	CCR5, CCR5AS	Single nucleotide variant (synonymous variant)	CCR5-related condition	GLikely benign
Select item 3033791	NM_001394783.1(CCR5):c.316G>A (p.Gly106Arg)	CCR5, CCR5AS (G106R)	Single nucleotide variant (missense variant)	CCR5-related condition	GLikely benign
Select item 2636002	NM_001394783.1(CCR5):c.74T>A (p.Val25Glu)	CCR5, CCR5AS (V25E)	Single nucleotide variant (missense variant)	CCR5-related condition	GUncertain significance
Select item 2634364	NM_001394783.1(CCR5):c.715A>G (p.Thr239Ala)	CCR5, CCR5AS (T239A)	Single nucleotide variant (missense variant)	CCR5-related condition	GUncertain significance
Select item 2558981	NM_001394783.1(CCR5):c.814T>C (p.Ser272Pro)	CCR5, CCR5AS (S272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535650	NM_001394783.1(CCR5):c.517G>T (p.Gly173Cys)	CCR5, CCR5AS (G173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409819	NM_001394783.1(CCR5):c.502A>G (p.Arg168Gly)	CCR5, CCR5AS (R168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349648	NM_001394783.1(CCR5):c.116T>G (p.Leu39Arg)	CCR5, CCR5AS (L39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344661	NM_001394783.1(CCR5):c.92G>A (p.Arg31His)	CCR5, CCR5AS (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333544	NM_001394783.1(CCR5):c.295A>T (p.Thr99Ser)	CCR5, CCR5AS (T99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285854	NM_001394783.1(CCR5):c.274G>A (p.Ala92Thr)	CCR5, CCR5AS (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242873	NM_001394783.1(CCR5):c.1010C>T (p.Ser337Leu)	CCR5, CCR5AS (S337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239705	NM_001394783.1(CCR5):c.272C>T (p.Ala91Val)	CCR5, CCR5AS (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234990	NM_001394783.1(CCR5):c.893C>A (p.Ala298Asp)	CCR5, CCR5AS (A298D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050203	NM_001394783.1(CCR5):c.492C>G (p.Ile164Met)	CCR5, CCR5AS (I164M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992556	NM_001394783.1(CCR5):c.187A>T (p.Ser63Cys)	CCR5, CCR5AS (S63C)	Single nucleotide variant (missense variant)	Hepatitis C virus, susceptibility to +3 more	GUncertain significance
Select item 8191	NM_001394783.1(CCR5):c.180G>T (p.Arg60Ser)	CCR5, CCR5AS (R60S)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection	Gprotective
Select item 8190	NM_000579.4(CCR5):c.-229C>T	CCR5, CCR5AS	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 8189	NM_000579.4(CCR5):c.-301+246A>G	CCR5, CCR5AS	Single nucleotide variant (intron variant)	CCR5-related condition	GBenign
Select item 8188	NM_001394783.1(CCR5):c.303T>A (p.Cys101Ter)	CCR5AS, CCR5 (C101*)	Single nucleotide variant (nonsense)	Susceptibility to HIV infection	Gprotective
Select item 8187	NM_001394783.1(CCR5):c.1004C>T (p.Ala335Val)	CCR5, CCR5AS (A335V)	Single nucleotide variant (missense variant)	CCR5 POLYMORPHISM, AFRICAN-AMERICAN	GBenign
Select item 8186	NM_001394783.1(CCR5):c.668G>A (p.Arg223Gln)	CCR5, CCR5AS (R223Q)	Single nucleotide variant (missense variant)	CCR5 POLYMORPHISM, ORIENTAL 2	GBenign
Select item 8185	NM_001394783.1(CCR5):c.894del (p.Phe299fs)	CCR5, CCR5AS (F299fs)	Deletion (frameshift variant)	CCR5 POLYMORPHISM, ORIENTAL 1	GBenign
Select item 8184	NM_001394783.1(CCR5):c.554_585del (p.Ser185fs)	CCR5, CCR5AS (S185fs)	Deletion (frameshift variant)	CCR5-related condition +1 more	GBenign

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Items: 30