"Ambry Genetics"[submitter] AND "CTLA4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161109	NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)	CTLA4 (R51*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 3078630	NM_005214.5(CTLA4):c.250G>A (p.Val84Ile)	CTLA4 (V84I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 661941	NM_005214.5(CTLA4):c.257C>T (p.Ala86Val)	CTLA4 (A86V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1337576	NM_005214.5(CTLA4):c.371C>T (p.Thr124Met)	CTLA4 (T124M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 849622	NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg)	CTLA4 (G146R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2365023	NM_005214.5(CTLA4):c.557T>C (p.Leu186Ser)	CTLA4, LOC129935461 (L186S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 741101	NM_005214.5(CTLA4):c.615C>G (p.Pro205=)	CTLA4 (P169A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 963133	NM_005214.5(CTLA4):c.632G>A (p.Cys211Tyr)	CTLA4 (C211Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar