"PreventionGenetics, part of Exact Sciences"[submitter] AND "PIGA"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 383130	NM_002641.4(PIGA):c.*7G>T	PIGA	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 681365	NM_002641.4(PIGA):c.1381C>T (p.Arg461Trp)	PIGA (R461W +1 more)	Single nucleotide variant (missense variant +1 more)	PIGA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 449710	NM_002641.4(PIGA):c.1198C>T (p.Arg400Trp)	PIGA (R400W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 589910	NM_002641.4(PIGA):c.1188G>A (p.Lys396=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2630706	NM_002641.4(PIGA):c.1127A>G (p.Asn376Ser)	PIGA (N142S +1 more)	Single nucleotide variant (missense variant +1 more)	PIGA-related disorder	GUncertain significance
Select item 3058245	NM_002641.4(PIGA):c.1030C>G (p.Leu344Val)	PIGA (L110V +1 more)	Single nucleotide variant (missense variant +1 more)	PIGA-related disorder	GUncertain significance
Select item 512943	NM_002641.4(PIGA):c.981+8G>A	PIGA	Single nucleotide variant (intron variant)	PIGA-related disorder +3 more	GBenign/Likely benign
Select item 796487	NM_002641.4(PIGA):c.954C>T (p.Ile318=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GLikely benign
Select item 1513786	NM_002641.4(PIGA):c.853C>T (p.Arg285Cys)	PIGA (R51C +1 more)	Single nucleotide variant (missense variant +1 more)	PIGA-related disorder +1 more	GUncertain significance
Select item 2195240	NM_002641.4(PIGA):c.789A>T (p.Gly263=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 813740	NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)	PIGA (R119Q)	Single nucleotide variant (missense variant +1 more)	Paroxysmal nocturnal hemoglobinuria 1 +3 more	GConflicting classifications of pathogenicity
Select item 386385	NM_002641.4(PIGA):c.273C>T (p.Tyr91=)	PIGA	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 383325	NM_002641.4(PIGA):c.-63+8C>T	PIGA	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3037109	NM_002641.4(PIGA):c.-64C>T	PIGA	Single nucleotide variant (5 prime UTR variant +2 more)	PIGA-related disorder	GLikely benign