ClinVar for MedGen (Select 477139) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020102	NM_002641.4(PIGA):c.49C>T (p.Leu17Phe)	PIGA (L17F)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2982911	NM_002641.4(PIGA):c.1188+3A>G	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2893808	NM_002641.4(PIGA):c.252C>T (p.Thr84=)	PIGA	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2893228	NM_002641.4(PIGA):c.1213G>C (p.Ala405Pro)	PIGA (A405P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2882421	NM_002641.4(PIGA):c.682A>G (p.Ile228Val)	PIGA (I228V)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GBenign
Select item 2874682	NM_002641.4(PIGA):c.908A>G (p.His303Arg)	PIGA (H303R +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2864697	NM_002641.4(PIGA):c.651A>G (p.Pro217=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2863441	NM_002641.4(PIGA):c.1028del (p.Asn343fs)	PIGA (N109fs +1 more)	Deletion (frameshift variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GPathogenic
Select item 2861305	NM_002641.4(PIGA):c.1189-17G>T	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2844498	NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)	PIGA (R63T)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely pathogenic
Select item 2837403	NM_002641.4(PIGA):c.982-9C>G	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2833875	NM_002641.4(PIGA):c.62G>A (p.Ser21Asn)	PIGA (S21N)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2825151	NM_002641.4(PIGA):c.289A>C (p.Met97Leu)	PIGA (M97L)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2814878	NM_002641.4(PIGA):c.342G>C (p.Arg114Ser)	PIGA (R114S)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2808985	NM_002641.4(PIGA):c.443A>G (p.Gln148Arg)	PIGA (Q148R)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2807661	NM_002641.4(PIGA):c.1143A>G (p.Val381=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2806187	NM_002641.4(PIGA):c.1200G>A (p.Arg400=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2804464	NM_002641.4(PIGA):c.864A>T (p.Gly288=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2792854	NM_002641.4(PIGA):c.1149T>C (p.Thr383=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2788678	NM_002641.4(PIGA):c.291G>T (p.Met97Ile)	PIGA (M97I)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2779376	NM_002641.4(PIGA):c.91C>G (p.Arg31Gly)	PIGA (R31G)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2775848	NM_002641.4(PIGA):c.541A>G (p.Ile181Val)	PIGA (I181V)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2763358	NM_002641.4(PIGA):c.1399_1401del (p.Asn467del)	PIGA (N233del +1 more)	Deletion (inframe_deletion +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2752769	NM_002641.4(PIGA):c.339C>G (p.Leu113=)	PIGA	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2749307	NM_002641.4(PIGA):c.852G>T (p.Val284=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2739540	NM_002641.4(PIGA):c.4G>A (p.Ala2Thr)	PIGA (A2T)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2660052	NM_002641.4(PIGA):c.32A>G (p.His11Arg)	PIGA (H11R)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2660048	NM_002641.4(PIGA):c.1386T>C (p.Gly462=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GLikely benign
Select item 2627796	NM_002641.4(PIGA):c.1031T>G (p.Leu344Arg)	PIGA (L110R +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2424508	NC_000023.10:g.(?_14861689)_(15870650_?)del	ACE2, AP1S2 +12 more	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GPathogenic
Select item 2195240	NM_002641.4(PIGA):c.789A>T (p.Gly263=)	PIGA	Single nucleotide variant (non-coding transcript variant +1 more)	PIGA-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2192876	NM_002641.4(PIGA):c.301T>G (p.Ser101Ala)	PIGA (S101A)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2180831	NM_002641.4(PIGA):c.591A>G (p.Ala197=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2166721	NM_002641.4(PIGA):c.748C>G (p.Leu250Val)	PIGA (L16V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GBenign
Select item 2165092	NM_002641.4(PIGA):c.1319T>C (p.Ile440Thr)	PIGA (I440T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2149352	NM_002641.4(PIGA):c.34C>T (p.Arg12Cys)	PIGA (R12C)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GBenign
Select item 2116604	NM_002641.4(PIGA):c.981+11T>A	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2110366	NM_002641.4(PIGA):c.371T>A (p.Ile124Lys)	PIGA (I124K)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2083130	NM_002641.4(PIGA):c.1426G>A (p.Glu476Lys)	PIGA (E242K +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GBenign
Select item 2079742	NM_002641.4(PIGA):c.848+20T>C	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2071223	NM_002641.4(PIGA):c.586G>A (p.Ala196Thr)	PIGA (A196T)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2060098	NM_002641.4(PIGA):c.317T>C (p.Leu106Pro)	PIGA (L106P)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2055551	NM_002641.4(PIGA):c.85A>G (p.Arg29Gly)	PIGA (R29G)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2051866	NM_002641.4(PIGA):c.1363A>G (p.Ile455Val)	PIGA (I221V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2050896	NM_002641.4(PIGA):c.272A>G (p.Tyr91Cys)	PIGA (Y91C)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2050695	NM_002641.4(PIGA):c.849-20C>T	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GBenign
Select item 2047945	NM_002641.4(PIGA):c.1027A>G (p.Asn343Asp)	PIGA (N109D +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2037396	NM_002641.4(PIGA):c.960A>G (p.Glu320=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2022199	NM_002641.4(PIGA):c.732T>C (p.Ser244=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2021303	NM_002641.4(PIGA):c.848+20T>A	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2021131	NM_002641.4(PIGA):c.1219T>C (p.Leu407=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2019793	NM_002641.4(PIGA):c.447A>G (p.Thr149=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2017281	NM_002641.4(PIGA):c.1188+20A>G	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2016631	NM_002641.4(PIGA):c.1348A>G (p.Ile450Val)	PIGA (I450V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 2015920	NM_002641.4(PIGA):c.446C>T (p.Thr149Ile)	PIGA (T149I)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1998032	NM_002641.4(PIGA):c.154C>T (p.His52Tyr)	PIGA (H52Y)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1996455	NM_002641.4(PIGA):c.430A>T (p.Thr144Ser)	PIGA (T144S)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1995777	NM_002641.4(PIGA):c.1135A>G (p.Asn379Asp)	PIGA (N145D +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1994554	NM_002641.4(PIGA):c.1188+14T>A	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1990261	NM_002641.4(PIGA):c.811T>C (p.Leu271=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1971969	NM_002641.4(PIGA):c.296A>G (p.Asn99Ser)	PIGA (N99S)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1967455	NM_002641.4(PIGA):c.715+18A>G	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1963575	NM_002641.4(PIGA):c.1062T>C (p.Ser354=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GBenign
Select item 1956029	NM_002641.4(PIGA):c.328C>G (p.Leu110Val)	PIGA (L110V)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1935187	NM_002641.4(PIGA):c.216T>C (p.His72=)	PIGA	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1935034	NM_002641.4(PIGA):c.73C>A (p.Leu25Ile)	PIGA (L25I)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1806123	NM_002641.4(PIGA):c.1087A>G (p.Ile363Val)	PIGA (I129V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1715236	NM_002641.4(PIGA):c.1063T>A (p.Leu355Met)	PIGA (L121M +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1704280	NM_002641.4(PIGA):c.268T>C (p.Tyr90His)	PIGA (Y90H)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely pathogenic
Select item 1658365	NM_002641.4(PIGA):c.48A>G (p.Thr16=)	PIGA	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1643071	NM_002641.4(PIGA):c.848+17T>C	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1642384	NM_002641.4(PIGA):c.924C>T (p.Thr308=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1635854	NM_002641.4(PIGA):c.982-17CTTT[2]	PIGA	Microsatellite (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1610722	NM_002641.4(PIGA):c.924C>G (p.Thr308=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1603626	NM_002641.4(PIGA):c.744T>G (p.Pro248=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1601074	NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys)	PIGA (Y234C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1599411	NM_002641.4(PIGA):c.1139T>C (p.Ile380Thr)	PIGA (I146T +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GBenign
Select item 1583616	NM_002641.4(PIGA):c.1419A>G (p.Arg473=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1580812	NM_002641.4(PIGA):c.1185A>G (p.Glu395=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1569243	NM_002641.4(PIGA):c.1311C>T (p.Leu437=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1549539	NM_002641.4(PIGA):c.849-19C>T	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1543019	NM_002641.4(PIGA):c.849-16_849-15del	PIGA	Microsatellite (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1518127	NM_002641.4(PIGA):c.47C>T (p.Thr16Ile)	PIGA (T16I)	Single nucleotide variant (intron variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1517329	NM_002641.4(PIGA):c.236G>A (p.Gly79Asp)	PIGA (G79D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 condition +1 more	GUncertain significance
Select item 1508836	NM_002641.4(PIGA):c.332C>T (p.Pro111Leu)	PIGA (P111L)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1488469	NM_002641.4(PIGA):c.1204T>G (p.Ser402Ala)	PIGA (S168A +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GUncertain significance
Select item 1477450	NM_002641.4(PIGA):c.514A>G (p.Thr172Ala)	PIGA (T172A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1430640	NM_002641.4(PIGA):c.849-10A>G	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1430062	NM_002641.4(PIGA):c.677T>C (p.Ile226Thr)	PIGA (I226T)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1422445	NM_002641.4(PIGA):c.1159T>A (p.Trp387Arg)	PIGA (W153R +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1410823	NM_002641.4(PIGA):c.286G>C (p.Val96Leu)	PIGA (V96L)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1406786	NM_002641.4(PIGA):c.400A>G (p.Met134Val)	PIGA (M134V)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1405994	NM_002641.4(PIGA):c.1201G>C (p.Val401Leu)	PIGA (V401L +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1402495	NM_002641.4(PIGA):c.1225A>G (p.Met409Val)	PIGA (M175V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1378708	NM_002641.4(PIGA):c.721G>A (p.Asp241Asn)	PIGA (D241N +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GUncertain significance
Select item 1374592	NM_002641.4(PIGA):c.227A>G (p.Asn76Ser)	PIGA (N76S)	Single nucleotide variant (non-coding transcript variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1366057	NM_002641.4(PIGA):c.1315C>G (p.Leu439Val)	PIGA (L439V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1359313	NM_002641.4(PIGA):c.982-3A>C	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1351323	NM_002641.4(PIGA):c.1131C>G (p.Ile377Met)	PIGA (I143M +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance

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