"Baylor Genetics"[submitter] AND "PIGN"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582488	NM_176787.5(PIGN):c.2619+5G>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 264635	NM_176787.5(PIGN):c.2340T>A (p.Tyr780Ter)	PIGN (Y780*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1029295	NM_176787.5(PIGN):c.2288C>T (p.Thr763Ile)	PIGN (T763I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 659307	NM_176787.5(PIGN):c.2237T>G (p.Ile746Arg)	PIGN (I746R)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 581123	NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter)	PIGN (R587*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 472213	NM_176787.5(PIGN):c.1694G>A (p.Arg565His)	PIGN (R565H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 391067	NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu)	PIGN (R565L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 646762	NM_176787.5(PIGN):c.1693C>T (p.Arg565Cys)	PIGN (R565C)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 539543	NM_176787.5(PIGN):c.1442G>A (p.Ser481Asn)	PIGN (S481N)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 264636	NM_176787.5(PIGN):c.1434+5G>A	PIGN	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 665474	NM_176787.5(PIGN):c.1251+1G>A	PIGN	Single nucleotide variant (splice donor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic/Likely pathogenic
Select item 1029294	NM_176787.5(PIGN):c.1144A>G (p.Thr382Ala)	PIGN (T382A)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	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 639048	NM_176787.5(PIGN):c.473G>T (p.Ser158Ile)	PIGN (S158I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 378361	NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)	PIGN (R95W)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 944547	NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)	PIGN (R55*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GPathogenic/Likely pathogenic