"GeneDx"[submitter] AND "CTLA4"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 1261285	NC_000002.12:g.203867500T>A	CTLA4	Single nucleotide variant	not provided	GBenign
Select item 1168343	NC_000002.12:g.203867624C>T	CTLA4	Single nucleotide variant	not provided +1 more	GBenign
Select item 16921	NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala)	CTLA4 (T17A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 280759	NM_005214.5(CTLA4):c.60G>A (p.Trp20Ter)	CTLA4 (W20*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +1 more	GPathogenic/Likely pathogenic
Select item 1232853	NM_005214.5(CTLA4):c.109+76A>G	CTLA4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1312019	NM_005214.5(CTLA4):c.136G>A (p.Val46Ile)	CTLA4 (V46I)	Single nucleotide variant (missense variant)	not provided	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 2430678	NM_005214.5(CTLA4):c.347T>A (p.Ile116Asn)	CTLA4 (I116N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 644256	NM_005214.5(CTLA4):c.352G>C (p.Gly118Arg)	CTLA4 (G118R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 432079	NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)	CTLA4 (P137L)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 2131343	NM_005214.5(CTLA4):c.430G>A (p.Gly144Ser)	CTLA4 (G144S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +1 more	GUncertain significance
Select item 510871	NM_005214.5(CTLA4):c.456T>A (p.Ile152=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 1258268	NM_005214.5(CTLA4):c.457+154G>T	CTLA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326454	NM_005214.5(CTLA4):c.496A>G (p.Ile166Val)	CTLA4 (I166V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307969	NM_005214.5(CTLA4):c.619A>G (p.Thr207Ala)	CTLA4 (N170S +1 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +1 more	GUncertain significance