Related gene-specific medical variations for Gene (Select 5277) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689750	NM_002641.4(PIGA):c.1332G>T (p.Trp444Cys)	PIGA (W210C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434831	NM_002641.4(PIGA):c.981+3A>G	PIGA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1319180	NM_002641.4(PIGA):c.-63+1G>A	PIGA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1319179	NM_002641.4(PIGA):c.290T>C (p.Met97Thr)	PIGA (M97T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 975620	NM_002641.4(PIGA):c.287T>C (p.Val96Ala)	PIGA (V96A)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GLikely benign
Select item 975619	NM_002641.4(PIGA):c.178C>G (p.Leu60Val)	PIGA (L60V)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GUncertain significance
Select item 810511	NM_002641.4(PIGA):c.985G>T (p.Val329Leu)	PIGA (V329L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 235496	NM_002641.4(PIGA):c.68dup (p.Ser24fs)	PIGA (S24fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic

ClinVar