CD80[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224718	NM_005191.4(CD80):c.*214T>G	CD80	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2594274	NM_005191.4(CD80):c.856C>T (p.Arg286Cys)	CD80 (R286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264880	NM_005191.4(CD80):c.797G>A (p.Cys266Tyr)	CD80 (C266Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554750	NM_005191.4(CD80):c.781T>C (p.Cys261Arg)	CD80 (C261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517362	NM_005191.4(CD80):c.671G>A (p.Arg224Lys)	CD80 (R224K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774605	NM_005191.4(CD80):c.664C>T (p.His222Tyr)	CD80 (H222Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2320195	NM_005191.4(CD80):c.653T>C (p.Ile218Thr)	CD80 (I218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264879	NM_005191.4(CD80):c.581A>G (p.Glu194Gly)	CD80 (E194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324034	NM_005191.4(CD80):c.440T>C (p.Ile147Thr)	CD80 (I147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140672	NM_005191.4(CD80):c.383G>A (p.Arg128Gln)	CD80 (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780106	NM_005191.4(CD80):c.297C>G (p.Leu99=)	CD80	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2539233	NM_005191.4(CD80):c.259T>C (p.Tyr87His)	CD80 (Y87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264878	NM_005191.4(CD80):c.256G>A (p.Glu86Lys)	CD80 (E86K)	Single nucleotide variant (missense variant)	not specified	GLikely benign