Related gene-specific medical variations for Gene (Select 57120) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100983	NM_020399.4(GOPC):c.1315A>C (p.Ser439Arg)	DCBLD1, GOPC (S431R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100982	NM_020399.4(GOPC):c.1237G>C (p.Gly413Arg)	DCBLD1, GOPC (G405R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100981	NM_020399.4(GOPC):c.1159A>C (p.Ser387Arg)	DCBLD1, GOPC (S379R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656875	NM_020399.4(GOPC):c.1134T>C (p.Asp378=)	DCBLD1, GOPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2351612	NM_020399.4(GOPC):c.1358T>C (p.Leu453Pro)	DCBLD1, GOPC (L445P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340448	NM_020399.4(GOPC):c.1370A>G (p.Tyr457Cys)	DCBLD1, GOPC (Y449C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272896	NM_020399.4(GOPC):c.937A>G (p.Ile313Val)	DCBLD1, GOPC (I305V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2271899	NM_020399.4(GOPC):c.1265A>G (p.Asn422Ser)	DCBLD1, GOPC (N414S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223293	NM_020399.4(GOPC):c.955C>T (p.His319Tyr)	DCBLD1, GOPC (H311Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance