Related gene-specific medical variations for Gene (Select 114800) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264332	NM_001080433.2(CCDC85A):c.224G>A (p.Arg75His)	CCDC85A, LOC100129434 (R75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139474	NM_001080433.2(CCDC85A):c.74C>G (p.Ser25Trp)	CCDC85A, LOC100129434 (S25W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139472	NM_001080433.2(CCDC85A):c.62C>T (p.Ala21Val)	CCDC85A, LOC100129434 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139471	NM_001080433.2(CCDC85A):c.61G>T (p.Ala21Ser)	CCDC85A, LOC100129434 (A21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139469	NM_001080433.2(CCDC85A):c.5C>G (p.Ser2Trp)	CCDC85A, LOC100129434 (S2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685852	GRCh37/hg19 2p16.1(chr2:56422435-56743077)x3	CCDC85A	Copy number gain	not provided	GUncertain significance
Select item 2548369	NM_001080433.2(CCDC85A):c.38C>T (p.Ala13Val)	CCDC85A, LOC100129434 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471119	NM_001080433.2(CCDC85A):c.160C>T (p.Arg54Cys)	CCDC85A, LOC100129434 (R54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388713	NM_001080433.2(CCDC85A):c.126G>C (p.Glu42Asp)	CCDC85A, LOC100129434 (E42D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224719	NM_001080433.2(CCDC85A):c.47A>G (p.Glu16Gly)	CCDC85A, LOC100129434 (E16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance