"Revvity Omics, Revvity"[submitter] AND "PIGN"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434843	NM_176787.5(PIGN):c.2737C>T (p.Gln913Ter)	PIGN (Q913*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 426235	NM_176787.5(PIGN):c.2284-1G>C	PIGN	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 959311	NM_176787.5(PIGN):c.2089G>T (p.Val697Phe)	PIGN (V697F)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2434842	NM_176787.5(PIGN):c.2018G>A (p.Ser673Asn)	PIGN (S673N)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 569845	NM_176787.5(PIGN):c.1766A>G (p.Lys589Arg)	PIGN (K589R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 657083	NM_176787.5(PIGN):c.959A>G (p.Asn320Ser)	PIGN (N320S)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 426983	NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)	PIGN (L311W)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 2434841	NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr)	PIGN (D252Y)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 505688	NM_176787.5(PIGN):c.674+1G>A	PIGN	Single nucleotide variant (splice donor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely pathogenic
Select item 264637	NM_176787.5(PIGN):c.548_549+6del	PIGN	Deletion (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2434840	NM_176787.5(PIGN):c.532G>A (p.Val178Ile)	PIGN (V178I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1324909	NM_176787.5(PIGN):c.407G>A (p.Trp136Ter)	PIGN (W136*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 580016	NM_176787.5(PIGN):c.170A>G (p.Asp57Gly)	PIGN (D57G)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance