ClinVar for MedGen (Select 8083) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24995411.	NM_000169.3(GLA):c.460A>G (p.Ile154Val) GRCh37: ChrX:100656707 GRCh38: ChrX:101401719	GLA, RPL36A-HNRNPH2	I154V, I195V	Fabry disease	Benign (Apr 5, 2023)	no assertion criteria provided
Select item 24443912.	NM_000169.3(GLA):c.796G>A (p.Asp266Asn) GRCh37: ChrX:100653778 GRCh38: ChrX:101398790	GLA, RPL36A-HNRNPH2	D266N	Fabry disease	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24443863.	NM_000169.3(GLA):c.1049C>T (p.Ala350Val) GRCh37: ChrX:100653038 GRCh38: ChrX:101398050	GLA, RPL36A-HNRNPH2	A350V, A391V	Fabry disease	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24443274.	NM_000169.3(GLA):c.779G>T (p.Gly260Val) GRCh37: ChrX:100653795 GRCh38: ChrX:101398807	GLA, RPL36A-HNRNPH2	G260V, G301V	Fabry disease	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24225125.	NC_000023.10:g.(?_100651964)_(100653826_?)del GRCh37: ChrX:100651964-100653826	GLA, RPL36A-HNRNPH2		Fabry disease	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 24225116.	NC_000023.10:g.(?_100655634)_(100656817_?)del GRCh37: ChrX:100655634-100656817	GLA, RPL36A-HNRNPH2		Fabry disease	Pathogenic (Apr 22, 2022)	criteria provided, single submitter
Select item 24225107.	NC_000023.10:g.(?_100499986)_(100662891_?)del GRCh37: ChrX:100499986-100662891	BTK, DRP2, GLA, RPL36A, RPL36A-HNRNPH2, TAF7L, TIMM8A		Fabry disease	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 24187668.	NM_000169.3(GLA):c.548-9C>T GRCh37: ChrX:100655754 GRCh38: ChrX:101400766	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Dec 14, 2021)	criteria provided, single submitter
Select item 24184399.	NM_000169.3(GLA):c.999+12T>C GRCh37: ChrX:100653346 GRCh38: ChrX:101398358	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 241705410.	NM_000169.3(GLA):c.1147T>C (p.Phe383Leu) GRCh37: ChrX:100652940 GRCh38: ChrX:101397952	GLA, RPL36A-HNRNPH2	F383L, F424L	Fabry disease	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 220099211.	NM_000169.3(GLA):c.1154C>T (p.Thr385Ile) GRCh37: ChrX:100652933 GRCh38: ChrX:101397945	GLA, RPL36A-HNRNPH2	T426I, T385I	Fabry disease	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 217742112.	NM_019597.5(HNRNPH2):c.-54+157G>C GRCh37: ChrX:100663464 GRCh38: ChrX:101408476	GLA, HNRNPH2, RPL36A-HNRNPH2		Fabry disease	Uncertain significance (Jul 16, 2020)	criteria provided, single submitter
Select item 217600113.	NM_000169.3(GLA):c.1110T>C (p.Ala370=) GRCh37: ChrX:100652977 GRCh38: ChrX:101397989	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 216705014.	NM_000169.3(GLA):c.1000-15T>C GRCh37: ChrX:100653102 GRCh38: ChrX:101398114	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 215969715.	NM_000169.3(GLA):c.5A>G (p.Gln2Arg) GRCh37: ChrX:100662887 GRCh38: ChrX:101407899	GLA, RPL36A-HNRNPH2	Q2R	Fabry disease	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 215925816.	NM_000169.3(GLA):c.25C>T (p.His9Tyr) GRCh37: ChrX:100662867 GRCh38: ChrX:101407879	GLA, RPL36A-HNRNPH2	H9Y	Fabry disease	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 215475717.	NM_000169.3(GLA):c.790G>A (p.Asp264Asn) GRCh37: ChrX:100653784 GRCh38: ChrX:101398796	GLA, RPL36A-HNRNPH2	D305N, D264N	Fabry disease	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 215047018.	NM_000169.3(GLA):c.18A>G (p.Pro6=) GRCh37: ChrX:100662874 GRCh38: ChrX:101407886	RPL36A-HNRNPH2, GLA		Fabry disease	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 214382319.	NM_000169.3(GLA):c.215T>C (p.Met72Thr) GRCh37: ChrX:100658953 GRCh38: ChrX:101403965	GLA, RPL36A-HNRNPH2	M72T, M113T	Fabry disease	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 213867520.	NM_000169.3(GLA):c.32del (p.Gly11fs) GRCh37: ChrX:100662860 GRCh38: ChrX:101407872	GLA, RPL36A-HNRNPH2	G11fs	Fabry disease	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 213867421.	NM_000169.3(GLA):c.44C>A (p.Ala15Glu) GRCh37: ChrX:100662848 GRCh38: ChrX:101407860	GLA, RPL36A-HNRNPH2	A15E	Fabry disease	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 213867222.	NM_000169.3(GLA):c.118C>G (p.Pro40Ala) GRCh37: ChrX:100662774 GRCh38: ChrX:101407786	GLA, RPL36A-HNRNPH2	P40A	Fabry disease	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 213867123.	NM_000169.3(GLA):c.137A>C (p.His46Pro) GRCh37: ChrX:100662755 GRCh38: ChrX:101407767	GLA, RPL36A-HNRNPH2	H46P	Fabry disease	Likely pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 213867024.	NM_000169.3(GLA):c.227T>C (p.Met76Thr) GRCh37: ChrX:100658941 GRCh38: ChrX:101403953	GLA, RPL36A-HNRNPH2	M76T, M117T	Fabry disease	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 213866925.	NM_000169.3(GLA):c.301G>A (p.Asp101Asn) GRCh37: ChrX:100658867 GRCh38: ChrX:101403879	GLA, RPL36A-HNRNPH2	D101N, D142N	Fabry disease	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 213866826.	NM_000169.3(GLA):c.358C>G (p.Leu120Val) GRCh37: ChrX:100658810 GRCh38: ChrX:101403822	GLA, RPL36A-HNRNPH2	L161V, L120V	Fabry disease	Likely pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 213866727.	NM_000169.3(GLA):c.426C>A (p.Cys142Ter) GRCh37: ChrX:100656741 GRCh38: ChrX:101401753	GLA, RPL36A-HNRNPH2	C183, C142	Fabry disease	Pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 213866628.	NM_000169.3(GLA):c.611G>A (p.Trp204Ter) GRCh37: ChrX:100655682 GRCh38: ChrX:101400694	GLA, RPL36A-HNRNPH2	W204*	Fabry disease, not provided	Pathogenic (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213866529.	NM_000169.3(GLA):c.758TTG[1] (p.Val254del) GRCh37: ChrX:100653811-100653813 GRCh38: ChrX:101398823-101398825	GLA, RPL36A-HNRNPH2	V295del, V254del	Fabry disease	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 213866430.	NM_000169.3(GLA):c.845C>A (p.Thr282Asn) GRCh37: ChrX:100653512 GRCh38: ChrX:101398524	GLA, RPL36A-HNRNPH2	T323N, T282N	Fabry disease	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 213866331.	NM_000169.3(GLA):c.871G>A (p.Ala291Thr) GRCh37: ChrX:100653486 GRCh38: ChrX:101398498	GLA, RPL36A-HNRNPH2	A291T	Fabry disease	Likely pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 213866232.	NM_000169.3(GLA):c.946G>A (p.Val316Ile) GRCh37: ChrX:100653411 GRCh38: ChrX:101398423	GLA, RPL36A-HNRNPH2	V316I	Fabry disease	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 213866133.	NM_000169.3(GLA):c.983G>A (p.Gly328Glu) GRCh37: ChrX:100653374 GRCh38: ChrX:101398386	GLA, RPL36A-HNRNPH2	G369E, G328E	Fabry disease	Likely pathogenic (Jun 26, 2022)	criteria provided, single submitter
Select item 213866034.	NM_000169.3(GLA):c.1019G>A (p.Trp340Ter) GRCh37: ChrX:100653068 GRCh38: ChrX:101398080	GLA, RPL36A-HNRNPH2	W340*	Fabry disease	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 213690935.	NM_000169.3(GLA):c.1239T>C (p.Val413=) GRCh37: ChrX:100652848 GRCh38: ChrX:101397860	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 213190236.	NM_000169.3(GLA):c.530T>G (p.Leu177Trp) GRCh37: ChrX:100656637 GRCh38: ChrX:101401649	GLA, RPL36A-HNRNPH2	L177W, L218W	Fabry disease	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 212625237.	NM_000169.3(GLA):c.876T>C (p.Ala292=) GRCh37: ChrX:100653481 GRCh38: ChrX:101398493	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 212315738.	NM_000169.3(GLA):c.194+7G>A GRCh37: ChrX:100662691 GRCh38: ChrX:101407703	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212120139.	NM_000169.3(GLA):c.573G>C (p.Leu191=) GRCh37: ChrX:100655720 GRCh38: ChrX:101400732	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 211454340.	NM_000169.3(GLA):c.21A>T (p.Glu7Asp) GRCh37: ChrX:100662871 GRCh38: ChrX:101407883	GLA, RPL36A-HNRNPH2	E7D	Fabry disease	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211175341.	NM_000169.3(GLA):c.329C>G (p.Pro110Arg) GRCh37: ChrX:100658839 GRCh38: ChrX:101403851	RPL36A-HNRNPH2, GLA	P151R, P110R	Fabry disease	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 210661442.	NM_000169.3(GLA):c.194+1G>T GRCh37: ChrX:100662697 GRCh38: ChrX:101407709	GLA, RPL36A-HNRNPH2		Fabry disease	Pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 209982143.	NM_000169.3(GLA):c.867C>T (p.Ile289=) GRCh37: ChrX:100653490 GRCh38: ChrX:101398502	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209924844.	NM_000169.3(GLA):c.548-5T>A GRCh37: ChrX:100655750 GRCh38: ChrX:101400762	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 209869745.	NM_000169.3(GLA):c.699T>C (p.Asp233=) GRCh37: ChrX:100653875 GRCh38: ChrX:101398887	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 209001246.	NM_000169.3(GLA):c.29T>C (p.Leu10Pro) GRCh37: ChrX:100662863 GRCh38: ChrX:101407875	GLA, RPL36A-HNRNPH2	L10P	Fabry disease	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 208545547.	NM_000169.3(GLA):c.573del (p.Asn192fs) GRCh37: ChrX:100655720 GRCh38: ChrX:101400732	GLA, RPL36A-HNRNPH2	N192fs	Fabry disease	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 207228248.	NM_000169.3(GLA):c.1269G>A (p.Met423Ile) GRCh37: ChrX:100652818 GRCh38: ChrX:101397830	GLA, RPL36A-HNRNPH2	M423I, M464I	Fabry disease	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 207228149.	NM_000169.3(GLA):c.1271C>G (p.Ser424Ter) GRCh37: ChrX:100652816 GRCh38: ChrX:101397828	GLA, RPL36A-HNRNPH2	S424, S465	Fabry disease	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 205975550.	NM_000169.3(GLA):c.968C>T (p.Pro323Leu) GRCh37: ChrX:100653389 GRCh38: ChrX:101398401	GLA, RPL36A-HNRNPH2	P323L, P364L	Fabry disease	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 203440151.	NM_000169.3(GLA):c.915T>G (p.Pro305=) GRCh37: ChrX:100653442 GRCh38: ChrX:101398454	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 202210352.	NM_000169.3(GLA):c.842dup (p.Thr282fs) GRCh37: ChrX:100653514-100653515 GRCh38: ChrX:101398526-101398527	GLA, RPL36A-HNRNPH2	T282fs	Fabry disease	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 200783453.	NM_000169.3(GLA):c.109del (p.Ala37fs) GRCh37: ChrX:100662783 GRCh38: ChrX:101407795	GLA, RPL36A-HNRNPH2	A37fs	Fabry disease	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 200602454.	NM_000169.3(GLA):c.1094dup (p.Tyr365Ter) GRCh37: ChrX:100652992-100652993 GRCh38: ChrX:101398004-101398005	GLA, RPL36A-HNRNPH2	Y365*	Fabry disease	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 200275355.	NM_000169.3(GLA):c.857T>C (p.Leu286Pro) GRCh37: ChrX:100653500 GRCh38: ChrX:101398512	GLA, RPL36A-HNRNPH2	L286P, L327P	Fabry disease	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 199422256.	NM_000169.3(GLA):c.984G>A (p.Gly328=) GRCh37: ChrX:100653373 GRCh38: ChrX:101398385	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 199305457.	NM_000169.3(GLA):c.1140T>G (p.Pro380=) GRCh37: ChrX:100652947 GRCh38: ChrX:101397959	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 198373358.	NM_000169.3(GLA):c.297A>G (p.Gln99=) GRCh37: ChrX:100658871 GRCh38: ChrX:101403883	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 196690059.	NM_000169.3(GLA):c.341C>T (p.Pro114Leu) GRCh37: ChrX:100658827 GRCh38: ChrX:101403839	GLA, RPL36A-HNRNPH2	P114L, P155L	Fabry disease	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 195798960.	NM_000169.3(GLA):c.799A>G (p.Met267Val) GRCh37: ChrX:100653775 GRCh38: ChrX:101398787	GLA, RPL36A-HNRNPH2	M267V, M308V	Fabry disease	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 195566061.	NM_000169.3(GLA):c.1000G>A (p.Gly334Arg) GRCh37: ChrX:100653087 GRCh38: ChrX:101398099	GLA, RPL36A-HNRNPH2	G334R, G375R	Fabry disease	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 195031762.	NM_000169.3(GLA):c.73G>T (p.Asp25Tyr) GRCh37: ChrX:100662819 GRCh38: ChrX:101407831	GLA, RPL36A-HNRNPH2	D25Y	Fabry disease	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 194910263.	NM_000169.3(GLA):c.1057A>G (p.Met353Val) GRCh37: ChrX:100653030 GRCh38: ChrX:101398042	GLA, RPL36A-HNRNPH2	M353V, M394V	Fabry disease	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 194295464.	NM_000169.3(GLA):c.1167T>C (p.Pro389=) GRCh37: ChrX:100652920 GRCh38: ChrX:101397932	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 190177065.	NM_000169.3(GLA):c.32G>C (p.Gly11Ala) GRCh37: ChrX:100662860 GRCh38: ChrX:101407872	GLA, RPL36A-HNRNPH2	G11A	Fabry disease	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 190176766.	NM_000169.3(GLA):c.567G>C (p.Leu189Phe) GRCh37: ChrX:100655726 GRCh38: ChrX:101400738	GLA, RPL36A-HNRNPH2	L189F	Fabry disease	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 180507767.	NM_000169.3(GLA):c.383G>A (p.Gly128Glu) GRCh37: ChrX:100656784 GRCh38: ChrX:101401796	GLA, RPL36A-HNRNPH2	G128E, G169E	Fabry disease	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 180506668.	NM_000169.3(GLA):c.374A>T (p.His125Leu) GRCh37: ChrX:100656793 GRCh38: ChrX:101401805	GLA, RPL36A-HNRNPH2	H125L, H166L	Fabry disease	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 175243769.	NM_000169.3(GLA):c.624G>A (p.Met208Ile) GRCh37: ChrX:100655669 GRCh38: ChrX:101400681	GLA, RPL36A-HNRNPH2	M249I, M208I	Cardiovascular phenotype, Fabry disease	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174319170.	NM_000169.3(GLA):c.47T>C (p.Leu16Pro) GRCh37: ChrX:100662845 GRCh38: ChrX:101407857	GLA, RPL36A-HNRNPH2	L16P	Cardiovascular phenotype, Fabry disease	Likely pathogenic (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173395771.	NM_000169.3(GLA):c.369+4A>T GRCh37: ChrX:100658795 GRCh38: ChrX:101403807	GLA, RPL36A-HNRNPH2		Cardiovascular phenotype, Fabry disease	Uncertain significance (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172665772.	NM_000169.3(GLA):c.330_331del (p.Gln111fs) GRCh37: ChrX:100658837-100658838 GRCh38: ChrX:101403849-101403850	GLA, RPL36A-HNRNPH2	Q111fs	Fabry disease	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172660973.	NM_000169.3(GLA):c.318_319del (p.Gln107fs) GRCh37: ChrX:100658849-100658850 GRCh38: ChrX:101403861-101403862	GLA, RPL36A-HNRNPH2	Q107fs	Fabry disease	Likely pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 172577174.	NM_000169.3(GLA):c.304_305del (p.Ser102fs) GRCh37: ChrX:100658863-100658864 GRCh38: ChrX:101403875-101403876	GLA, RPL36A-HNRNPH2	S102fs	Fabry disease	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172395475.	NM_000169.3(GLA):c.298del (p.Arg100fs) GRCh37: ChrX:100658870 GRCh38: ChrX:101403882	GLA, RPL36A-HNRNPH2	R100fs	Fabry disease	Likely pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 172333176.	NM_000169.3(GLA):c.154dup (p.Cys52fs) GRCh37: ChrX:100662737-100662738 GRCh38: ChrX:101407749-101407750	GLA, RPL36A-HNRNPH2	C52fs	Fabry disease	Likely pathogenic (Oct 18, 2022)	criteria provided, single submitter
Select item 171713077.	NM_000169.3(GLA):c.1037G>C (p.Gly346Ala) GRCh37: ChrX:100653050 GRCh38: ChrX:101398062	GLA, RPL36A-HNRNPH2	G346A, G387A	Fabry disease	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 171630778.	NM_000169.3(GLA):c.998A>T (p.Gln333Leu) GRCh37: ChrX:100653359 GRCh38: ChrX:101398371	RPL36A-HNRNPH2, GLA	Q333L, Q374L	Fabry disease	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 171225579.	NM_000169.3(GLA):c.936G>C (p.Gln312His) GRCh37: ChrX:100653421 GRCh38: ChrX:101398433	GLA, RPL36A-HNRNPH2	Q312H, Q353H	Fabry disease	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 171199580.	NM_000169.3(GLA):c.613C>G (p.Pro205Ala) GRCh37: ChrX:100655680 GRCh38: ChrX:101400692	GLA, RPL36A-HNRNPH2	P205A, P246A	not provided, Fabry disease	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 168749381.	NM_000169.3(GLA):c.1190A>G (p.Tyr397Cys) GRCh37: ChrX:100652897 GRCh38: ChrX:101397909	GLA, RPL36A-HNRNPH2	Y397C	Fabry disease	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168710182.	NM_000169.3(GLA):c.708G>A (p.Trp236Ter) GRCh37: ChrX:100653866 GRCh38: ChrX:101398878	GLA, RPL36A-HNRNPH2	W236*	Fabry disease	Likely pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 168585283.	NM_000169.3(GLA):c.782del (p.Gly261fs) GRCh37: ChrX:100653792 GRCh38: ChrX:101398804	GLA, RPL36A-HNRNPH2	G261fs	Fabry disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167363884.	NM_000169.3(GLA):c.369+7T>A GRCh37: ChrX:100658792 GRCh38: ChrX:101403804	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 167323285.	NM_000169.3(GLA):c.303T>C (p.Asp101=) GRCh37: ChrX:100658865 GRCh38: ChrX:101403877	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (May 26, 2021)	criteria provided, single submitter
Select item 166429686.	NM_000169.3(GLA):c.258T>C (p.Tyr86=) GRCh37: ChrX:100658910 GRCh38: ChrX:101403922	RPL36A-HNRNPH2, GLA		Fabry disease	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 165948087.	NM_000169.3(GLA):c.81T>C (p.Pro27=) GRCh37: ChrX:100662811 GRCh38: ChrX:101407823	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Dec 7, 2020)	criteria provided, single submitter
Select item 165195088.	NM_000169.3(GLA):c.1041A>G (p.Leu347=) GRCh37: ChrX:100653046 GRCh38: ChrX:101398058	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 164843889.	NM_000169.3(GLA):c.201G>A (p.Lys67=) GRCh37: ChrX:100658967 GRCh38: ChrX:101403979	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 164207190.	NM_000169.3(GLA):c.639+18G>C GRCh37: ChrX:100655636 GRCh38: ChrX:101400648	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Nov 5, 2021)	criteria provided, single submitter
Select item 163475691.	NM_000169.3(GLA):c.370-19_370-18del GRCh37: ChrX:100656815-100656816 GRCh38: ChrX:101401827-101401828	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 163241292.	NM_000169.3(GLA):c.1017G>A (p.Val339=) GRCh37: ChrX:100653070 GRCh38: ChrX:101398082	RPL36A-HNRNPH2, GLA		Fabry disease	Likely benign (Jul 18, 2021)	criteria provided, single submitter
Select item 162481093.	NM_000169.3(GLA):c.639+7T>C GRCh37: ChrX:100655647 GRCh38: ChrX:101400659	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Jun 21, 2021)	criteria provided, single submitter
Select item 162186394.	NM_000169.3(GLA):c.547+8T>C GRCh37: ChrX:100656612 GRCh38: ChrX:101401624	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Apr 27, 2021)	criteria provided, single submitter
Select item 162083795.	NM_000169.3(GLA):c.237A>G (p.Glu79=) GRCh37: ChrX:100658931 GRCh38: ChrX:101403943	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 161970396.	NM_000169.3(GLA):c.252A>G (p.Ala84=) GRCh37: ChrX:100658916 GRCh38: ChrX:101403928	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Nov 29, 2021)	criteria provided, single submitter
Select item 161683997.	NM_000169.3(GLA):c.648T>C (p.Tyr216=) GRCh37: ChrX:100653926 GRCh38: ChrX:101398938	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Nov 12, 2021)	criteria provided, single submitter
Select item 161063498.	NM_000169.3(GLA):c.291T>C (p.Ala97=) GRCh37: ChrX:100658877 GRCh38: ChrX:101403889	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Oct 14, 2021)	criteria provided, single submitter
Select item 160482599.	NM_000169.3(GLA):c.1113C>T (p.Ser371=) GRCh37: ChrX:100652974 GRCh38: ChrX:101397986	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 1594743100.	NM_000169.3(GLA):c.640-16A>T GRCh37: ChrX:100653950 GRCh38: ChrX:101398962	GLA, RPL36A-HNRNPH2		Fabry disease	Likely benign (Mar 11, 2021)	criteria provided, single submitter

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