ClinVar for MedGen (Select 1684749) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362651	NM_080476.5(PIGU):c.190C>T (p.His64Tyr)	PIGU (H64Y)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 3062090	NM_080476.5(PIGU):c.989C>G (p.Pro330Arg)	PIGU (P330R)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 3062078	NM_080476.5(PIGU):c.1195-1576G>A	PIGU	Single nucleotide variant (intron variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 2441853	NM_080476.5(PIGU):c.1245C>G (p.Tyr415Ter)	PIGU (Y415*)	Single nucleotide variant (nonsense)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 2434851	NM_080476.5(PIGU):c.780T>G (p.Phe260Leu)	PIGU (F260L)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 2434850	NM_080476.5(PIGU):c.530-3C>A	PIGU	Single nucleotide variant (intron variant)	Glycosylphosphatidylinositol biosynthesis defect 21 +1 more	GUncertain significance
Select item 1696481	NM_080476.5(PIGU):c.1286del (p.Glu429fs)	PIGU (E429fs)	Deletion (frameshift variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GLikely pathogenic
Select item 1327025	NM_080476.5(PIGU):c.130+29A>C	PIGU	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1299432	NM_080476.5(PIGU):c.1194+3A>G	PIGU	Single nucleotide variant (intron variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 689724	NM_080476.5(PIGU):c.1149C>A (p.Asn383Lys)	PIGU (N383K)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GPathogenic
Select item 689723	NM_080476.5(PIGU):c.209T>A (p.Ile70Lys)	PIGU (I70K)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GPathogenic