"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PIGA"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 223

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 539323	NM_002641.4(PIGA):c.1447A>G (p.Thr483Ala)	PIGA (T483A +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 653615	NM_002641.4(PIGA):c.1427A>G (p.Glu476Gly)	PIGA (E476G +1 more)	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 539327	NM_002641.4(PIGA):c.1422G>A (p.Gly474=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 791074	NM_002641.4(PIGA):c.1421G>T (p.Gly474Val)	PIGA (G474V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GBenign
Select item 508489	NM_002641.4(PIGA):c.1420G>A (p.Gly474Arg)	PIGA (G474R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 972192	NM_002641.4(PIGA):c.1418G>C (p.Arg473Thr)	PIGA (R473T +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
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 2763358	NM_002641.4(PIGA):c.1399_1401del (p.Asn467del)	PIGA (N233del +1 more)	Deletion (inframe_indel +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GUncertain significance
Select item 1014456	NM_002641.4(PIGA):c.1387G>A (p.Ala463Thr)	PIGA (A229T +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
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 521967	NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln)	PIGA (R461Q +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GConflicting classifications of pathogenicity
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 539320	NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr)	PIGA (A457T +1 more)	Single nucleotide variant (missense variant +1 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 860851	NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn)	PIGA (D452N +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GPathogenic
Select item 1064449	NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr)	PIGA (I217T +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GPathogenic/Likely pathogenic
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 773377	NM_002641.4(PIGA):c.1346C>G (p.Ser449Cys)	PIGA (S215C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 745459	NM_002641.4(PIGA):c.1338T>A (p.Thr446=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 2165092	NM_002641.4(PIGA):c.1319T>C (p.Ile440Thr)	PIGA (I440T +1 more)	Single nucleotide variant (missense variant +1 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)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GUncertain significance
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 1104004	NM_002641.4(PIGA):c.1308C>T (p.Phe436=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 1014577	NM_002641.4(PIGA):c.1255C>T (p.His419Tyr)	PIGA (H185Y +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 855699	NM_002641.4(PIGA):c.1240G>C (p.Asp414His)	PIGA (D180H +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 803712	NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln)	PIGA (R178Q +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GConflicting classifications of pathogenicity
Select item 29988	NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)	PIGA (R412* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
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 1051686	NM_002641.4(PIGA):c.1222C>T (p.Pro408Ser)	PIGA (P174S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
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 389491	NM_002641.4(PIGA):c.1214C>T (p.Ala405Val)	PIGA (A405V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 1488469	NM_002641.4(PIGA):c.1204T>G (p.Ser402Ala)	PIGA (S168A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 1055015	NM_002641.4(PIGA):c.1201G>A (p.Val401Ile)	PIGA (V167I +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GUncertain significance
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 1001338	NM_002641.4(PIGA):c.1199G>A (p.Arg400Gln)	PIGA (R166Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 449710	NM_002641.4(PIGA):c.1198C>T (p.Arg400Trp)	PIGA (R400W +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GUncertain significance
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 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 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 663262	NM_002641.4(PIGA):c.1188+4T>C	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GBenign
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 589910	NM_002641.4(PIGA):c.1188G>A (p.Lys396=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +2 more	GBenign/Likely 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 838031	NM_002641.4(PIGA):c.1184A>G (p.Glu395Gly)	PIGA (E161G +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 397534	NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys)	PIGA (E161K +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GConflicting classifications of pathogenicity
Select item 864122	NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly)	PIGA (R393G +1 more)	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 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 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 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 945388	NM_002641.4(PIGA):c.1131_1139del (p.His378_Ile380del)	PIGA	Deletion (inframe_deletion +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 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
Select item 539325	NM_002641.4(PIGA):c.1095A>G (p.Gln365=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
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 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 471950	NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser)	PIGA (P350S +1 more)	Single nucleotide variant (missense variant +1 more)	Paroxysmal nocturnal hemoglobinuria 1 +2 more	GUncertain significance
Select item 833890	NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly)	PIGA (E349G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1053021	NM_002641.4(PIGA):c.1022C>T (p.Pro341Leu)	PIGA (P107L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1156705	NM_002641.4(PIGA):c.984T>C (p.Val328=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
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 1105860	NM_002641.4(PIGA):c.982-4T>G	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 539326	NM_002641.4(PIGA):c.982-4T>A	PIGA	Single nucleotide variant (intron variant)	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 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 539324	NM_002641.4(PIGA):c.982-9del	PIGA	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
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 1140392	NM_002641.4(PIGA):c.981+9C>T	PIGA	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GLikely benign
Select item 512943	NM_002641.4(PIGA):c.981+8G>A	PIGA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 934085	NM_002641.4(PIGA):c.981+5A>G	PIGA	Single nucleotide variant (intron variant)	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 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	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 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 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 655263	NM_002641.4(PIGA):c.908A>C (p.His303Pro)	PIGA (H69P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 387505	NM_002641.4(PIGA):c.879G>A (p.Lys293=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +2 more	GBenign/Likely benign
Select item 471953	NM_002641.4(PIGA):c.877A>G (p.Lys293Glu)	PIGA (K293E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 588876	NM_002641.4(PIGA):c.873A>G (p.Glu291=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	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 572648	NM_002641.4(PIGA):c.854G>A (p.Arg285His)	PIGA (R285H +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 1513786	NM_002641.4(PIGA):c.853C>T (p.Arg285Cys)	PIGA (R51C +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
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 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 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 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 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 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 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 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 391835	NM_002641.4(PIGA):c.823C>T (p.Arg275Trp)	PIGA (R275W +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +2 more	GConflicting classifications of pathogenicity
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 1015041	NM_002641.4(PIGA):c.790G>C (p.Glu264Gln)	PIGA (E264Q +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2	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

<< First< Prev

Page of 3