ClinVar for MedGen (Select 1648478) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338278	NM_033198.4(PIGS):c.37G>T (p.Val13Leu)	PIGS (V13L)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GUncertain significance
Select item 3338277	NM_033198.4(PIGS):c.1436T>A (p.Leu479Ter)	PIGS (L479*)	Single nucleotide variant (nonsense)	Glycosylphosphatidylinositol biosynthesis defect 18	GLikely pathogenic
Select item 3068026	NM_033198.4(PIGS):c.550C>T (p.Arg184Cys)	PIGS (R184C)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GUncertain significance
Select item 1119957	NM_033198.4(PIGS):c.734G>A (p.Trp245Ter)	PIGS (W245*)	Single nucleotide variant (nonsense)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 1119956	NM_033198.4(PIGS):c.1141_1164dup (p.Asp381_Val388dup)	PIGS	Duplication (inframe_insertion)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 1119955	NM_033198.4(PIGS):c.986C>G (p.Pro329Arg)	PIGS (P329R)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 1119954	NM_033198.4(PIGS):c.1070G>A (p.Gly357Asp)	PIGS (G357D)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 1119953	NM_033198.4(PIGS):c.174G>C (p.Gln58His)	PIGS (Q58H)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 1031035	NM_033198.4(PIGS):c.1204C>T (p.Pro402Ser)	PIGS (P402S)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GUncertain significance
Select item 1028511	NM_033198.4(PIGS):c.526C>T (p.Arg176Trp)	PIGS (R176W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028510	NM_033198.4(PIGS):c.1274G>A (p.Arg425Gln)	PIGS (R425Q)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GUncertain significance
Select item 585257	NM_033198.4(PIGS):c.468+1G>C	PIGS	Single nucleotide variant (splice donor variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 585256	NM_033198.4(PIGS):c.923A>G (p.Glu308Gly)	PIGS (E308G)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GLikely pathogenic
Select item 585255	NM_033198.4(PIGS):c.1316_1352delinsGGTTGCT (p.Thr439_Lys451delinsArgLeuLeu)	PIGS	Indel (inframe_indel)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 585254	NM_033198.4(PIGS):c.101T>C (p.Leu34Pro)	PIGS (L34P)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GLikely pathogenic
Select item 585253	NM_033198.4(PIGS):c.108G>A (p.Trp36Ter)	PIGS (W36*)	Single nucleotide variant (nonsense)	Glycosylphosphatidylinositol biosynthesis defect 18	GLikely pathogenic