"Invitae"[submitter] AND "LOC129935461"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2766058	NM_005214.5(CTLA4):c.538C>A (p.Leu180Ile)	CTLA4, LOC129935461 (L180I)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2840995	NM_005214.5(CTLA4):c.543C>T (p.Leu181=)	CTLA4, LOC129935461	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 963211	NM_005214.5(CTLA4):c.553T>A (p.Ser185Thr)	CTLA4, LOC129935461 (S185T)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 542068	NM_005214.5(CTLA4):c.565A>G (p.Met189Val)	CTLA4, LOC129935461 (M189V)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 1037921	NM_005214.5(CTLA4):c.567G>A (p.Met189Ile)	CTLA4, LOC129935461 (M189I)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 475279	NM_005214.5(CTLA4):c.567+1G>A	CTLA4, LOC129935461	Single nucleotide variant (splice donor variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 962294	NM_005214.5(CTLA4):c.567+3G>A	CTLA4, LOC129935461	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2711876	NM_005214.5(CTLA4):c.567+5G>A	CTLA4, LOC129935461	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance