"Baylor Genetics"[submitter] AND "GPAA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028656	NM_003801.4(GPAA1):c.29G>A (p.Arg10Gln)	GPAA1, LOC130001364 (R10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028657	NM_003801.4(GPAA1):c.319_320del (p.Ser107fs)	GPAA1 (S107fs)	Microsatellite (frameshift variant)	Glycosylphosphatidylinositol biosynthesis defect 15	GPathogenic
Select item 1034025	NM_003801.4(GPAA1):c.1268G>A (p.Gly423Glu)	GPAA1 (G423E)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 15 +1 more	GUncertain significance
Select item 1034026	NM_003801.4(GPAA1):c.1658C>T (p.Pro553Leu)	GPAA1 (P553L)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 15 +2 more	GUncertain significance
Select item 1028655	NM_003801.4(GPAA1):c.1723G>T (p.Ala575Ser)	GPAA1 (A575S)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 15	GUncertain significance
Select item 625552	GRCh37/hg19 8q24.3(chr8:144879444-145199846)	CYC1, EPPK1 +14 more	Copy number loss	8q24.3 microdeletion syndrome	GPathogenic

ClinVar