COPS3[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076271	NM_003653.4(COPS3):c.1112C>G (p.Ala371Gly)	COPS3 (A241G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076270	NM_003653.4(COPS3):c.1051A>G (p.Ile351Val)	COPS3 (I331V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780065	NM_003653.4(COPS3):c.1024-10C>T	COPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3076274	NM_003653.4(COPS3):c.984G>C (p.Leu328Phe)	COPS3 (L198F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596995	NM_003653.4(COPS3):c.683T>C (p.Ile228Thr)	COPS3 (I161T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346768	NM_003653.4(COPS3):c.227C>T (p.Thr76Met)	COPS3 (T56M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076273	NM_003653.4(COPS3):c.209G>A (p.Ser70Asn)	COPS3 (S50N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216354	NM_003653.4(COPS3):c.209G>C (p.Ser70Thr)	COPS3 (S50T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618894	NM_003653.4(COPS3):c.203T>A (p.Met68Lys)	COPS3 (M68K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076272	NM_003653.4(COPS3):c.172G>A (p.Val58Ile)	COPS3 (V58I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2647519	NM_003653.4(COPS3):c.51T>C (p.Ala17=)	COPS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 708422	NM_003653.4(COPS3):c.6G>A (p.Ala2=)	COPS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign