ClinVar for MedGen (Select 477139) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 212

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24245081.	NC_000023.10:g.(?_14861689)_(15870650_?)del GRCh37: ChrX:14861689-15870650	ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 21952402.	NM_002641.4(PIGA):c.789A>T (p.Gly263=) GRCh37: ChrX:15344095 GRCh38: ChrX:15325973	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 21928763.	NM_002641.4(PIGA):c.301T>G (p.Ser101Ala) GRCh37: ChrX:15349752 GRCh38: ChrX:15331630	PIGA	S101A	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 21808314.	NM_002641.4(PIGA):c.591A>G (p.Ala197=) GRCh37: ChrX:15349462 GRCh38: ChrX:15331340	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 21667215.	NM_002641.4(PIGA):c.748C>G (p.Leu250Val) GRCh37: ChrX:15344136 GRCh38: ChrX:15326014	PIGA	L16V, L250V	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Benign (Aug 27, 2022)	criteria provided, single submitter
Select item 21650926.	NM_002641.4(PIGA):c.1319T>C (p.Ile440Thr) GRCh37: ChrX:15339764 GRCh38: ChrX:15321642	PIGA	I440T, I206T	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 21493527.	NM_002641.4(PIGA):c.34C>T (p.Arg12Cys) GRCh37: ChrX:15350019 GRCh38: ChrX:15331897	PIGA	R12C	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Benign (Aug 9, 2022)	criteria provided, single submitter
Select item 21166048.	NM_002641.4(PIGA):c.981+11T>A GRCh37: ChrX:15343131 GRCh38: ChrX:15325009	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 21103669.	NM_002641.4(PIGA):c.371T>A (p.Ile124Lys) GRCh37: ChrX:15349682 GRCh38: ChrX:15331560	PIGA	I124K	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 208313010.	NM_002641.4(PIGA):c.1426G>A (p.Glu476Lys) GRCh37: ChrX:15339657 GRCh38: ChrX:15321535	PIGA	E242K, E476K	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 207974211.	NM_002641.4(PIGA):c.848+20T>C GRCh37: ChrX:15344016 GRCh38: ChrX:15325894	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207122312.	NM_002641.4(PIGA):c.586G>A (p.Ala196Thr) GRCh37: ChrX:15349467 GRCh38: ChrX:15331345	PIGA	A196T	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 206009813.	NM_002641.4(PIGA):c.317T>C (p.Leu106Pro) GRCh37: ChrX:15349736 GRCh38: ChrX:15331614	PIGA	L106P	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 205555114.	NM_002641.4(PIGA):c.85A>G (p.Arg29Gly) GRCh37: ChrX:15349968 GRCh38: ChrX:15331846	PIGA	R29G	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 205186615.	NM_002641.4(PIGA):c.1363A>G (p.Ile455Val) GRCh37: ChrX:15339720 GRCh38: ChrX:15321598	PIGA	I221V, I455V	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 205089616.	NM_002641.4(PIGA):c.272A>G (p.Tyr91Cys) GRCh37: ChrX:15349781 GRCh38: ChrX:15331659	PIGA	Y91C	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 205069517.	NM_002641.4(PIGA):c.849-20C>T GRCh37: ChrX:15343294 GRCh38: ChrX:15325172	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Benign (Dec 13, 2021)	criteria provided, single submitter
Select item 204794518.	NM_002641.4(PIGA):c.1027A>G (p.Asn343Asp) GRCh37: ChrX:15342948 GRCh38: ChrX:15324826	PIGA	N109D, N343D	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 203739619.	NM_002641.4(PIGA):c.960A>G (p.Glu320=) GRCh37: ChrX:15343163 GRCh38: ChrX:15325041	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 202219920.	NM_002641.4(PIGA):c.732T>C (p.Ser244=) GRCh37: ChrX:15344152 GRCh38: ChrX:15326030	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 202130321.	NM_002641.4(PIGA):c.848+20T>A GRCh37: ChrX:15344016 GRCh38: ChrX:15325894	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 202113122.	NM_002641.4(PIGA):c.1219T>C (p.Leu407=) GRCh37: ChrX:15339864 GRCh38: ChrX:15321742	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 201979323.	NM_002641.4(PIGA):c.447A>G (p.Thr149=) GRCh37: ChrX:15349606 GRCh38: ChrX:15331484	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 201728124.	NM_002641.4(PIGA):c.1188+20A>G GRCh37: ChrX:15342767 GRCh38: ChrX:15324645	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 201663125.	NM_002641.4(PIGA):c.1348A>G (p.Ile450Val) GRCh37: ChrX:15339735 GRCh38: ChrX:15321613	PIGA	I450V, I216V	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 201592026.	NM_002641.4(PIGA):c.446C>T (p.Thr149Ile) GRCh37: ChrX:15349607 GRCh38: ChrX:15331485	PIGA	T149I	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 199803227.	NM_002641.4(PIGA):c.154C>T (p.His52Tyr) GRCh37: ChrX:15349899 GRCh38: ChrX:15331777	PIGA	H52Y	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 199645528.	NM_002641.4(PIGA):c.430A>T (p.Thr144Ser) GRCh37: ChrX:15349623 GRCh38: ChrX:15331501	PIGA	T144S	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 199577729.	NM_002641.4(PIGA):c.1135A>G (p.Asn379Asp) GRCh37: ChrX:15342840 GRCh38: ChrX:15324718	PIGA	N145D, N379D	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 199455430.	NM_002641.4(PIGA):c.1188+14T>A GRCh37: ChrX:15342773 GRCh38: ChrX:15324651	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 199026131.	NM_002641.4(PIGA):c.811T>C (p.Leu271=) GRCh37: ChrX:15344073 GRCh38: ChrX:15325951	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 197196932.	NM_002641.4(PIGA):c.296A>G (p.Asn99Ser) GRCh37: ChrX:15349757 GRCh38: ChrX:15331635	PIGA	N99S	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 196745533.	NM_002641.4(PIGA):c.715+18A>G GRCh37: ChrX:15349320 GRCh38: ChrX:15331198	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 196357534.	NM_002641.4(PIGA):c.1062T>C (p.Ser354=) GRCh37: ChrX:15342913 GRCh38: ChrX:15324791	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Benign (Jan 17, 2022)	criteria provided, single submitter
Select item 195602935.	NM_002641.4(PIGA):c.328C>G (p.Leu110Val) GRCh37: ChrX:15349725 GRCh38: ChrX:15331603	PIGA	L110V	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 193518736.	NM_002641.4(PIGA):c.216T>C (p.His72=) GRCh37: ChrX:15349837 GRCh38: ChrX:15331715	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 193503437.	NM_002641.4(PIGA):c.73C>A (p.Leu25Ile) GRCh37: ChrX:15349980 GRCh38: ChrX:15331858	PIGA	L25I	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 180612338.	NM_002641.4(PIGA):c.1087A>G (p.Ile363Val) GRCh37: ChrX:15342888 GRCh38: ChrX:15324766	PIGA	I129V, I363V	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 171523639.	NM_002641.4(PIGA):c.1063T>A (p.Leu355Met) GRCh37: ChrX:15342912 GRCh38: ChrX:15324790	PIGA	L121M, L355M	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 170428040.	NM_002641.4(PIGA):c.268T>C (p.Tyr90His) GRCh37: ChrX:15349785 GRCh38: ChrX:15331663	PIGA	Y90H	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely pathogenic (Sep 8, 2002)	no assertion criteria provided
Select item 165836541.	NM_002641.4(PIGA):c.48A>G (p.Thr16=) GRCh37: ChrX:15350005 GRCh38: ChrX:15331883	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Oct 11, 2021)	criteria provided, single submitter
Select item 164307142.	NM_002641.4(PIGA):c.848+17T>C GRCh37: ChrX:15344019 GRCh38: ChrX:15325897	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 164238443.	NM_002641.4(PIGA):c.924C>T (p.Thr308=) GRCh37: ChrX:15343199 GRCh38: ChrX:15325077	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Nov 27, 2021)	criteria provided, single submitter
Select item 163585444.	NM_002641.4(PIGA):c.982-17CTTT[2] GRCh37: ChrX:15342999-15343002 GRCh38: ChrX:15324877-15324880	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 26, 2021)	criteria provided, single submitter
Select item 161072245.	NM_002641.4(PIGA):c.924C>G (p.Thr308=) GRCh37: ChrX:15343199 GRCh38: ChrX:15325077	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Apr 30, 2021)	criteria provided, single submitter
Select item 160362646.	NM_002641.4(PIGA):c.744T>G (p.Pro248=) GRCh37: ChrX:15344140 GRCh38: ChrX:15326018	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 160107447.	NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys) GRCh37: ChrX:15339680 GRCh38: ChrX:15321558	PIGA	Y234C, Y468C	Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2	Benign/Likely benign (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159941148.	NM_002641.4(PIGA):c.1139T>C (p.Ile380Thr) GRCh37: ChrX:15342836 GRCh38: ChrX:15324714	PIGA	I146T, I380T	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Benign (Oct 11, 2021)	criteria provided, single submitter
Select item 158361649.	NM_002641.4(PIGA):c.1419A>G (p.Arg473=) GRCh37: ChrX:15339664 GRCh38: ChrX:15321542	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 158081250.	NM_002641.4(PIGA):c.1185A>G (p.Glu395=) GRCh37: ChrX:15342790 GRCh38: ChrX:15324668	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 24, 2021)	criteria provided, single submitter
Select item 156924351.	NM_002641.4(PIGA):c.1311C>T (p.Leu437=) GRCh37: ChrX:15339772 GRCh38: ChrX:15321650	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 154953952.	NM_002641.4(PIGA):c.849-19C>T GRCh37: ChrX:15343293 GRCh38: ChrX:15325171	PIGA		Paroxysmal nocturnal hemoglobinuria 1, Multiple congenital anomalies-hypotonia-seizures syndrome 2	Conflicting interpretations of pathogenicity (Mar 2, 2022)	criteria provided, conflicting interpretations
Select item 154301953.	NM_002641.4(PIGA):c.849-16_849-15del GRCh37: ChrX:15343289-15343290 GRCh38: ChrX:15325167-15325168	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Sep 14, 2021)	criteria provided, single submitter
Select item 151812754.	NM_002641.4(PIGA):c.47C>T (p.Thr16Ile) GRCh37: ChrX:15350006 GRCh38: ChrX:15331884	PIGA	T16I	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 151732955.	NM_002641.4(PIGA):c.236G>A (p.Gly79Asp) GRCh37: ChrX:15349817 GRCh38: ChrX:15331695	PIGA	G79D	not provided, Multiple congenital anomalies-hypotonia-seizures syndrome 2	Conflicting interpretations of pathogenicity (Aug 14, 2021)	criteria provided, conflicting interpretations
Select item 151378656.	NM_002641.4(PIGA):c.853C>T (p.Arg285Cys) GRCh37: ChrX:15343270 GRCh38: ChrX:15325148	PIGA	R51C, R285C	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 150883657.	NM_002641.4(PIGA):c.332C>T (p.Pro111Leu) GRCh37: ChrX:15349721 GRCh38: ChrX:15331599	PIGA	P111L	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 148846958.	NM_002641.4(PIGA):c.1204T>G (p.Ser402Ala) GRCh37: ChrX:15339879 GRCh38: ChrX:15321757	PIGA	S168A, S402A	Multiple congenital anomalies-hypotonia-seizures syndrome 2, not provided	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147745059.	NM_002641.4(PIGA):c.514A>G (p.Thr172Ala) GRCh37: ChrX:15349539 GRCh38: ChrX:15331417	PIGA	T172A	Multiple congenital anomalies-hypotonia-seizures syndrome 2, not provided	Uncertain significance (Apr 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143064060.	NM_002641.4(PIGA):c.849-10A>G GRCh37: ChrX:15343284 GRCh38: ChrX:15325162	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 143006261.	NM_002641.4(PIGA):c.677T>C (p.Ile226Thr) GRCh37: ChrX:15349376 GRCh38: ChrX:15331254	PIGA	I226T	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 142244562.	NM_002641.4(PIGA):c.1159T>A (p.Trp387Arg) GRCh37: ChrX:15342816 GRCh38: ChrX:15324694	PIGA	W153R, W387R	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 141082363.	NM_002641.4(PIGA):c.286G>C (p.Val96Leu) GRCh37: ChrX:15349767 GRCh38: ChrX:15331645	PIGA	V96L	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 140678664.	NM_002641.4(PIGA):c.400A>G (p.Met134Val) GRCh37: ChrX:15349653 GRCh38: ChrX:15331531	PIGA	M134V	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 140599465.	NM_002641.4(PIGA):c.1201G>C (p.Val401Leu) GRCh37: ChrX:15339882 GRCh38: ChrX:15321760	PIGA	V401L, V167L	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 140249566.	NM_002641.4(PIGA):c.1225A>G (p.Met409Val) GRCh37: ChrX:15339858 GRCh38: ChrX:15321736	PIGA	M175V, M409V	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 137870867.	NM_002641.4(PIGA):c.721G>A (p.Asp241Asn) GRCh37: ChrX:15344163 GRCh38: ChrX:15326041	PIGA	D241N, D7N	not provided, Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137459268.	NM_002641.4(PIGA):c.227A>G (p.Asn76Ser) GRCh37: ChrX:15349826 GRCh38: ChrX:15331704	PIGA	N76S	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 136605769.	NM_002641.4(PIGA):c.1315C>G (p.Leu439Val) GRCh37: ChrX:15339768 GRCh38: ChrX:15321646	PIGA	L439V, L205V	not provided, Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Jan 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 135931370.	NM_002641.4(PIGA):c.982-3A>C GRCh37: ChrX:15342996 GRCh38: ChrX:15324874	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 135132371.	NM_002641.4(PIGA):c.1131C>G (p.Ile377Met) GRCh37: ChrX:15342844 GRCh38: ChrX:15324722	PIGA	I143M, I377M	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Nov 13, 2021)	criteria provided, single submitter
Select item 116958472.	NM_002641.4(PIGA):c.369G>A (p.Thr123=) GRCh37: ChrX:15349684 GRCh38: ChrX:15331562	PIGA		not provided, Multiple congenital anomalies-hypotonia-seizures syndrome 2	Benign/Likely benign (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116174873.	NM_002641.4(PIGA):c.420C>T (p.Phe140=) GRCh37: ChrX:15349633 GRCh38: ChrX:15331511	PIGA		not provided, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2	Conflicting interpretations of pathogenicity (Dec 17, 2021)	criteria provided, conflicting interpretations
Select item 115670574.	NM_002641.4(PIGA):c.984T>C (p.Val328=) GRCh37: ChrX:15342991 GRCh38: ChrX:15324869	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Mar 3, 2020)	criteria provided, single submitter
Select item 114645475.	NM_002641.4(PIGA):c.417C>T (p.Leu139=) GRCh37: ChrX:15349636 GRCh38: ChrX:15331514	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 114193676.	NM_002641.4(PIGA):c.390T>C (p.Ser130=) GRCh37: ChrX:15349663 GRCh38: ChrX:15331541	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 114094077.	NM_002641.4(PIGA):c.438G>C (p.Gly146=) GRCh37: ChrX:15349615 GRCh38: ChrX:15331493	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 114039278.	NM_002641.4(PIGA):c.981+9C>T GRCh37: ChrX:15343133 GRCh38: ChrX:15325011	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jun 19, 2019)	criteria provided, single submitter
Select item 113978379.	NM_002641.4(PIGA):c.399T>C (p.Ala133=) GRCh37: ChrX:15349654 GRCh38: ChrX:15331532	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 113882380.	NM_002641.4(PIGA):c.456G>A (p.Thr152=) GRCh37: ChrX:15349597 GRCh38: ChrX:15331475	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases	Likely benign (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112930081.	NM_002641.4(PIGA):c.657A>G (p.Pro219=) GRCh37: ChrX:15349396 GRCh38: ChrX:15331274	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 112214882.	NM_002641.4(PIGA):c.387T>C (p.Ser129=) GRCh37: ChrX:15349666 GRCh38: ChrX:15331544	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 111502183.	NM_002641.4(PIGA):c.715+7A>C GRCh37: ChrX:15349331 GRCh38: ChrX:15331209	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Mar 12, 2020)	criteria provided, single submitter
Select item 111121084.	NM_002641.4(PIGA):c.441T>C (p.Leu147=) GRCh37: ChrX:15349612 GRCh38: ChrX:15331490	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 110586085.	NM_002641.4(PIGA):c.982-4T>G GRCh37: ChrX:15342997 GRCh38: ChrX:15324875	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Jul 29, 2020)	criteria provided, single submitter
Select item 110400486.	NM_002641.4(PIGA):c.1308C>T (p.Phe436=) GRCh37: ChrX:15339775 GRCh38: ChrX:15321653	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Apr 25, 2019)	criteria provided, single submitter
Select item 108399987.	NM_002641.4(PIGA):c.459C>T (p.Asp153=) GRCh37: ChrX:15349594 GRCh38: ChrX:15331472	PIGA		Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 106444988.	NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr) GRCh37: ChrX:15339731 GRCh38: ChrX:15321609	PIGA	I217T, I451T	not provided, Multiple congenital anomalies-hypotonia-seizures syndrome 2	Pathogenic/Likely pathogenic (Apr 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 105585889.	NM_002641.4(PIGA):c.517G>A (p.Val173Met) GRCh37: ChrX:15349536 GRCh38: ChrX:15331414	PIGA	V173M	Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105579490.	NM_002641.4(PIGA):c.754C>G (p.Gln252Glu) GRCh37: ChrX:15344130 GRCh38: ChrX:15326008	PIGA	Q18E, Q252E	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 105501591.	NM_002641.4(PIGA):c.1201G>A (p.Val401Ile) GRCh37: ChrX:15339882 GRCh38: ChrX:15321760	PIGA	V167I, V401I	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 105302192.	NM_002641.4(PIGA):c.1022C>T (p.Pro341Leu) GRCh37: ChrX:15342953 GRCh38: ChrX:15324831	PIGA	P107L, P341L	Multiple congenital anomalies-hypotonia-seizures syndrome 2, not provided	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 105168693.	NM_002641.4(PIGA):c.1222C>T (p.Pro408Ser) GRCh37: ChrX:15339861 GRCh38: ChrX:15321739	PIGA	P174S, P408S	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 25, 2021)	criteria provided, single submitter
Select item 105087394.	NM_002641.4(PIGA):c.305C>T (p.Thr102Ile) GRCh37: ChrX:15349748 GRCh38: ChrX:15331626	PIGA	T102I	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 103899695.	NM_002641.4(PIGA):c.43G>A (p.Ala15Thr) GRCh37: ChrX:15350010 GRCh38: ChrX:15331888	PIGA	A15T	Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 8, 2022)	criteria provided, conflicting interpretations
Select item 103795896.	NM_002641.4(PIGA):c.26A>G (p.Asn9Ser) GRCh37: ChrX:15350027 GRCh38: ChrX:15331905	PIGA	N9S	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 103751897.	NM_002641.4(PIGA):c.215A>G (p.His72Arg) GRCh37: ChrX:15349838 GRCh38: ChrX:15331716	PIGA	H72R	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 103557298.	NM_002641.4(PIGA):c.182T>C (p.Ile61Thr) GRCh37: ChrX:15349871 GRCh38: ChrX:15331749	PIGA	I61T	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 103488899.	NM_002641.4(PIGA):c.35G>A (p.Arg12His) GRCh37: ChrX:15350018 GRCh38: ChrX:15331896	PIGA	R12H	Multiple congenital anomalies-hypotonia-seizures syndrome 2	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 1033523100.	NM_002641.4(PIGA):c.986T>C (p.Val329Ala) GRCh37: ChrX:15342989 GRCh38: ChrX:15324867	PIGA	V329A, V95A	Paroxysmal nocturnal hemoglobinuria 1, Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely pathogenic (Oct 2, 2021)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 3