"Ambry Genetics"[submitter] AND "CCT2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2327534	NM_006431.3(CCT2):c.29A>C (p.Asn10Thr)	CCT2 (N10T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537701	NM_006431.3(CCT2):c.83C>T (p.Ser28Phe)	CCT2 (S28F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482259	NM_006431.3(CCT2):c.139G>A (p.Gly47Ser)	CCT2 (G47S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 835634	NM_006431.3(CCT2):c.260T>C (p.Met87Thr)	CCT2 (M87T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 842316	NM_006431.3(CCT2):c.265A>G (p.Arg89Gly)	CCT2 (R42G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2259419	NM_006431.3(CCT2):c.374C>T (p.Thr125Ile)	CCT2 (T125I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1907473	NM_006431.3(CCT2):c.466C>T (p.Arg156Cys)	CCT2 (R109C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1970957	NM_006431.3(CCT2):c.478A>G (p.Met160Val)	CCT2 (M113V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1408485	NM_006431.3(CCT2):c.526A>C (p.Lys176Gln)	CCT2 (K176Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1980070	NM_006431.3(CCT2):c.622A>C (p.Ser208Arg)	CCT2 (S208R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2304427	NM_006431.3(CCT2):c.754T>C (p.Phe252Leu)	CCT2 (F205L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1009273	NM_006431.3(CCT2):c.964C>T (p.Arg322Cys)	CCT2 (R275C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2242239	NM_006431.3(CCT2):c.1180C>G (p.Leu394Val)	CCT2 (L347V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2531169	NM_006431.3(CCT2):c.1222T>C (p.Tyr408His)	CCT2 (Y361H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1018844	NM_006431.3(CCT2):c.1249A>T (p.Met417Leu)	CCT2 (M370L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2510012	NM_006431.3(CCT2):c.1342A>G (p.Thr448Ala)	CCT2 (T448A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1940815	NM_006431.3(CCT2):c.1372A>G (p.Ser458Gly)	CCT2 (S458G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1909861	NM_006431.3(CCT2):c.1502G>A (p.Arg501Gln)	CCT2 (R454Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1379335	NM_006431.3(CCT2):c.1556A>T (p.Asn519Ile)	CCT2 (N472I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance