Related gene-specific medical variations for Gene (Select 5283) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306486	NM_004569.5(PIGH):c.524A>T (p.Gln175Leu)	GPHN, PIGH (Q174L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306485	NM_004569.5(PIGH):c.349G>T (p.Gly117Cys)	GPHN, PIGH (G117C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212799	NM_004569.5(PIGH):c.524A>G (p.Gln175Arg)	GPHN, PIGH (Q174R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212798	NM_004569.5(PIGH):c.496T>A (p.Cys166Ser)	GPHN, PIGH (C165S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056965	NM_004569.5(PIGH):c.276C>T (p.Ile92=)	GPHN, PIGH	Single nucleotide variant (synonymous variant)	PIGH-related disorder	GBenign
Select item 3045133	NM_004569.5(PIGH):c.165C>A (p.Leu55=)	GPHN, LOC130055900 +1 more	Single nucleotide variant (synonymous variant)	PIGH-related disorder	GLikely benign
Select item 3039267	NM_004569.5(PIGH):c.141G>T (p.Thr47=)	GPHN, LOC130055900 +1 more	Single nucleotide variant (synonymous variant)	PIGH-related disorder	GBenign
Select item 3038313	NM_004569.5(PIGH):c.72G>A (p.Pro24=)	GPHN, LOC130055900 +1 more	Single nucleotide variant (synonymous variant)	PIGH-related disorder	GBenign
Select item 2644334	NM_004569.5(PIGH):c.180+6G>A	GPHN, LOC130055900 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2644333	NM_004569.5(PIGH):c.421T>C (p.Leu141=)	PIGH, GPHN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541256	NM_004569.5(PIGH):c.236A>G (p.Tyr79Cys)	GPHN, PIGH (Y79C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540024	NM_004569.5(PIGH):c.187A>G (p.Met63Val)	GPHN, PIGH (M63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519658	NM_004569.5(PIGH):c.374A>G (p.Asn125Ser)	GPHN, PIGH (N125S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401075	NM_004569.5(PIGH):c.229C>T (p.Leu77Phe)	GPHN, PIGH (L77F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304636	NM_004569.5(PIGH):c.110C>G (p.Ser37Trp)	GPHN, LOC130055900 +1 more (S37W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261018	NM_004569.5(PIGH):c.188T>C (p.Met63Thr)	GPHN, PIGH (M63T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256665	NM_004569.5(PIGH):c.23C>T (p.Ser8Leu)	GPHN, LOC130055900 +1 more (S8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239305	NM_004569.5(PIGH):c.43C>G (p.Leu15Val)	GPHN, LOC130055900 +1 more (L15V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209457	NM_004569.5(PIGH):c.503T>C (p.Ile168Thr)	GPHN, PIGH (I168T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1332855	NM_004569.5(PIGH):c.487C>T (p.Arg163Trp)	GPHN, PIGH (R162W +1 more)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 17 +3 more	GConflicting classifications of pathogenicity
Select item 545631	NM_004569.5(PIGH):c.307T>C (p.Ser103Pro)	GPHN, PIGH (S103P)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 17	GPathogenic
Select item 545630	NM_004569.5(PIGH):c.1A>T (p.Met1Leu)	GPHN, LOC130055900 +1 more (M1L)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 17	GPathogenic
Select item 161623	NM_004569.5(PIGH):c.471C>G (p.Phe157Leu)	GPHN, PIGH (F157L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Items: 23