ClinVar for MedGen (Select 1720295) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792121.	GRCh38/hg38 Xq28(chrX:154375606-154392000)x0 GRCh38: ChrX:154375606-154392000	EMD, LOC107988033		X-linked Emery-Dreifuss muscular dystrophy	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 24412212.	NM_000117.3(EMD):c.82+3A>G GRCh37: ChrX:153607929 GRCh38: ChrX:154379569	EMD		X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Jan 10, 2023)	criteria provided, single submitter
Select item 24412203.	NM_000117.3(EMD):c.524G>A (p.Ser175Asn) GRCh37: ChrX:153609316 GRCh38: ChrX:154380956	EMD	S175N	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Dec 13, 2022)	criteria provided, single submitter
Select item 24412194.	NM_000117.3(EMD):c.455G>A (p.Arg152His) GRCh37: ChrX:153609247 GRCh38: ChrX:154380887	EMD	R152H	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Nov 29, 2022)	criteria provided, single submitter
Select item 24412185.	NM_000117.3(EMD):c.553T>C (p.Ser185Pro) GRCh37: ChrX:153609345 GRCh38: ChrX:154380985	EMD	S185P	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24223726.	NC_000023.10:g.(?_153607393)_(153608624_?)del GRCh37: ChrX:153607393-153608624	EMD		X-linked Emery-Dreifuss muscular dystrophy	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 24223717.	NC_000023.10:g.(?_153357622)_(153664237_?)dup GRCh37: ChrX:153357622-153664237	TKTL1, OPN1LW, TAFAZZIN, RPL10, EMD, OPN1MW2, FLNA, OPN1MW, ATP6AP1, DNASE1L1, TEX28, MECP2		X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 24221578.	NC_000023.10:g.(?_152014869)_(155171615_?)del GRCh37: ChrX:152014869-155171615	FAM3A, H2AB3, OPN1MW2, HCFC1, CTAG2, SLC10A3, FLNA, ZNF275, PLXNA3, BRCC3, CMC4, HAUS7, UBL4A, TMEM187, FAM50A, CCNQ, BGN, IRAK1, CLIC2, F8, TMLHE, TAFAZZIN, ZFP92, NAA10, MECP2, SSR4, RPL10, FUNDC2, PNMA6A, SLC6A8, LOC100509091, G6PD, ABCD1, NSDHL, F8A2, LAGE3, PLXNB3, PNCK, PNMA5, CTAG1A, GAB3, PNMA6E, TKTL1, PNMA3, TEX28, IDH3G, OPN1LW, RENBP, RAB39B, MAGEA1, SMIM9, DNASE1L1, EMD, GDI1, VBP1, IKBKG, TREX2, AVPR2, SRPK3, BCAP31, H2AB1, ZNF185, H2AB2, ATP2B3, F8A1, OPN1MW, CTAG1B, L1CAM, ARHGAP4, DKC1, MPP1, F8A3, DUSP9, MTCP1, ATP6AP1, PDZD4		Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, X-linked Emery-Dreifuss muscular dystrophy, Adrenoleukodystrophy, Spastic paraplegia, Creatine transporter deficiency, 3-Methylglutaconic aciduria type 2	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 24167059.	NM_000117.3(EMD):c.82+4C>T GRCh37: ChrX:153607930 GRCh38: ChrX:154379570	EMD		X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 241624610.	NM_000117.3(EMD):c.555C>T (p.Ser185=) GRCh37: ChrX:153609347 GRCh38: ChrX:154380987	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 241561211.	NM_000117.3(EMD):c.576C>G (p.Ser192=) GRCh37: ChrX:153609368 GRCh38: ChrX:154381008	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 219552212.	NM_000117.3(EMD):c.177T>C (p.Tyr59=) GRCh37: ChrX:153608144 GRCh38: ChrX:154379784	EMD		X-linked Emery-Dreifuss muscular dystrophy	Benign (Oct 13, 2022)	criteria provided, single submitter
Select item 217908913.	NM_000117.3(EMD):c.741G>A (p.Gln247=) GRCh37: ChrX:153609533 GRCh38: ChrX:154381173	EMD		X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype	Likely benign (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215887614.	NM_000117.3(EMD):c.534C>A (p.Asp178Glu) GRCh37: ChrX:153609326 GRCh38: ChrX:154380966	EMD	D178E	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 215285515.	NM_000117.3(EMD):c.82+12C>T GRCh37: ChrX:153607938 GRCh38: ChrX:154379578	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 214889416.	NM_000117.3(EMD):c.400-13C>T GRCh37: ChrX:153609100 GRCh38: ChrX:154380740	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Dec 16, 2021)	criteria provided, single submitter
Select item 214822317.	NM_000117.3(EMD):c.180C>T (p.Ser60=) GRCh37: ChrX:153608147 GRCh38: ChrX:154379787	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 214458918.	NM_000117.3(EMD):c.63C>T (p.Ile21=) GRCh37: ChrX:153607907 GRCh38: ChrX:154379547	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 213878819.	NM_000117.3(EMD):c.397C>T (p.Gln133Ter) GRCh37: ChrX:153608725 GRCh38: ChrX:154380365	EMD	Q133*	X-linked Emery-Dreifuss muscular dystrophy	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 213511020.	NM_000117.3(EMD):c.651_655dup (p.Gln219fs) GRCh37: ChrX:153609442-153609443 GRCh38: ChrX:154381082-154381083	EMD	Q219fs	X-linked Emery-Dreifuss muscular dystrophy	Pathogenic (May 24, 2022)	criteria provided, single submitter
Select item 213000321.	NM_000117.3(EMD):c.30C>T (p.Thr10=) GRCh37: ChrX:153607874 GRCh38: ChrX:154379514	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212523822.	NM_000117.3(EMD):c.399G>C (p.Gln133His) GRCh37: ChrX:153608727 GRCh38: ChrX:154380367	EMD	Q133H	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 211877823.	NM_000117.3(EMD):c.546T>A (p.Tyr182Ter) GRCh37: ChrX:153609338 GRCh38: ChrX:154380978	EMD	Y182*	X-linked Emery-Dreifuss muscular dystrophy	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 210725924.	NM_000117.3(EMD):c.9C>T (p.Asn3=) GRCh37: ChrX:153607853 GRCh38: ChrX:154379493	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 210705725.	NM_000117.3(EMD):c.681C>A (p.Gly227=) GRCh37: ChrX:153609473 GRCh38: ChrX:154381113	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 210578226.	NM_000117.3(EMD):c.235A>G (p.Lys79Glu) GRCh37: ChrX:153608349 GRCh38: ChrX:154379989	EMD	K79E	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 210566727.	NM_000117.3(EMD):c.520A>C (p.Arg174=) GRCh37: ChrX:153609312 GRCh38: ChrX:154380952	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 210459628.	NM_000117.3(EMD):c.672G>C (p.Pro224=) GRCh37: ChrX:153609464 GRCh38: ChrX:154381104	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 210017529.	NM_000117.3(EMD):c.187+16G>T GRCh37: ChrX:153608170 GRCh38: ChrX:154379810	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 209456330.	NM_000117.3(EMD):c.449+11G>C GRCh37: ChrX:153609173 GRCh38: ChrX:154380813	EMD		X-linked Emery-Dreifuss muscular dystrophy	Benign (Jan 21, 2022)	criteria provided, single submitter
Select item 208510231.	NM_000117.3(EMD):c.718T>C (p.Phe240Leu) GRCh37: ChrX:153609510 GRCh38: ChrX:154381150	EMD	F240L	X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 208431432.	NM_000117.3(EMD):c.206G>A (p.Gly69Glu) GRCh37: ChrX:153608320 GRCh38: ChrX:154379960	EMD	G69E	Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 208120433.	NM_000117.3(EMD):c.321G>T (p.Glu107Asp) GRCh37: ChrX:153608649 GRCh38: ChrX:154380289	EMD	E107D	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Nov 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207153234.	NM_000117.3(EMD):c.266-13C>T GRCh37: ChrX:153608581 GRCh38: ChrX:154380221	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 206915135.	NM_000117.3(EMD):c.581C>G (p.Ser194Ter) GRCh37: ChrX:153609373 GRCh38: ChrX:154381013	EMD	S194*	X-linked Emery-Dreifuss muscular dystrophy	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 205413936.	NM_000117.3(EMD):c.450-8T>C GRCh37: ChrX:153609234 GRCh38: ChrX:154380874	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 204764137.	NM_000117.3(EMD):c.266-9dup GRCh37: ChrX:153608579-153608580 GRCh38: ChrX:154380219-154380220	EMD		X-linked Emery-Dreifuss muscular dystrophy	Benign (Sep 15, 2022)	criteria provided, single submitter
Select item 204301138.	NM_000117.3(EMD):c.448A>G (p.Arg150Gly) GRCh37: ChrX:153609161 GRCh38: ChrX:154380801	EMD	R150G	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 203642139.	NM_000117.3(EMD):c.96G>A (p.Arg32=) GRCh37: ChrX:153608063 GRCh38: ChrX:154379703	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 203237140.	NM_000117.3(EMD):c.674del (p.Leu225fs) GRCh37: ChrX:153609466 GRCh38: ChrX:154381106	EMD	L225fs	X-linked Emery-Dreifuss muscular dystrophy	Pathogenic/Likely pathogenic (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202953741.	NM_000117.3(EMD):c.105G>A (p.Glu35=) GRCh37: ChrX:153608072 GRCh38: ChrX:154379712	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 201498642.	NM_000117.3(EMD):c.449+7A>G GRCh37: ChrX:153609169 GRCh38: ChrX:154380809	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 201326843.	NM_000117.3(EMD):c.587C>G (p.Ser196Cys) GRCh37: ChrX:153609379 GRCh38: ChrX:154381019	EMD	S196C	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 200690444.	NM_000117.3(EMD):c.32A>G (p.Glu11Gly) GRCh37: ChrX:153607876 GRCh38: ChrX:154379516	EMD	E11G	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200687045.	NM_000117.3(EMD):c.450-11T>C GRCh37: ChrX:153609231 GRCh38: ChrX:154380871	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 200428746.	NM_000117.3(EMD):c.79del (p.Val26_Val27insTer) GRCh37: ChrX:153607923 GRCh38: ChrX:154379563	EMD		X-linked Emery-Dreifuss muscular dystrophy	Pathogenic (Jul 17, 2022)	criteria provided, single submitter
Select item 200161747.	NM_000117.3(EMD):c.59A>G (p.Asn20Ser) GRCh37: ChrX:153607903 GRCh38: ChrX:154379543	EMD	N20S	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 199286048.	NM_000117.3(EMD):c.69C>G (p.His23Gln) GRCh37: ChrX:153607913 GRCh38: ChrX:154379553	EMD	H23Q	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 198910549.	NM_000117.3(EMD):c.671C>G (p.Pro224Arg) GRCh37: ChrX:153609463 GRCh38: ChrX:154381103	EMD	P224R	Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Dec 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198580850.	NM_000117.3(EMD):c.139C>T (p.Arg47Trp) GRCh37: ChrX:153608106 GRCh38: ChrX:154379746	EMD	R47W	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 196262151.	NM_000117.3(EMD):c.656A>G (p.Gln219Arg) GRCh37: ChrX:153609448 GRCh38: ChrX:154381088	EMD	Q219R	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 195636352.	NM_000117.3(EMD):c.66G>T (p.Pro22=) GRCh37: ChrX:153607910 GRCh38: ChrX:154379550	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 193433053.	NM_000117.3(EMD):c.110A>G (p.Lys37Arg) GRCh37: ChrX:153608077 GRCh38: ChrX:154379717	EMD	K37R	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 193001254.	NM_000117.3(EMD):c.303C>T (p.Thr101=) GRCh37: ChrX:153608631 GRCh38: ChrX:154380271	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 192528355.	NM_000117.3(EMD):c.706G>A (p.Val236Met) GRCh37: ChrX:153609498 GRCh38: ChrX:154381138	EMD	V236M	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 191441256.	NM_000117.3(EMD):c.187+12G>C GRCh37: ChrX:153608166 GRCh38: ChrX:154379806	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 191221957.	NM_000117.3(EMD):c.723C>T (p.Phe241=) GRCh37: ChrX:153609515 GRCh38: ChrX:154381155	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 190727458.	NM_000117.3(EMD):c.231C>G (p.Pro77=) GRCh37: ChrX:153608345 GRCh38: ChrX:154379985	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Sep 24, 2021)	criteria provided, single submitter
Select item 189754359.	NM_000117.3(EMD):c.639T>G (p.Pro213=) GRCh37: ChrX:153609431 GRCh38: ChrX:154381071	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 189713960.	NM_000117.3(EMD):c.450-6C>T GRCh37: ChrX:153609236 GRCh38: ChrX:154380876	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 165717161.	NM_000117.3(EMD):c.450-13T>G GRCh37: ChrX:153609229 GRCh38: ChrX:154380869	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 165405662.	NM_000117.3(EMD):c.321G>A (p.Glu107=) GRCh37: ChrX:153608649 GRCh38: ChrX:154380289	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Nov 21, 2020)	criteria provided, single submitter
Select item 164043363.	NM_000117.3(EMD):c.535C>T (p.Leu179=) GRCh37: ChrX:153609327 GRCh38: ChrX:154380967	EMD		X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype	Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163984964.	NM_000117.3(EMD):c.449+10G>T GRCh37: ChrX:153609172 GRCh38: ChrX:154380812	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 163731065.	NM_000117.3(EMD):c.83-17G>A GRCh37: ChrX:153608033 GRCh38: ChrX:154379673	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 162795766.	NM_000117.3(EMD):c.450-12C>T GRCh37: ChrX:153609230 GRCh38: ChrX:154380870	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 162222867.	NM_000117.3(EMD):c.450-13T>C GRCh37: ChrX:153609229 GRCh38: ChrX:154380869	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 161055768.	NM_000117.3(EMD):c.270C>T (p.Tyr90=) GRCh37: ChrX:153608598 GRCh38: ChrX:154380238	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Feb 16, 2021)	criteria provided, single submitter
Select item 159749569.	NM_000117.3(EMD):c.469C>T (p.Arg157Trp) GRCh37: ChrX:153609261 GRCh38: ChrX:154380901	EMD	R157W	X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 159733970.	NM_000117.3(EMD):c.411C>T (p.Asp137=) GRCh37: ChrX:153609124 GRCh38: ChrX:154380764	EMD		Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 159293471.	NM_000117.3(EMD):c.399+18C>A GRCh37: ChrX:153608745 GRCh38: ChrX:154380385	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 159260572.	NM_000117.3(EMD):c.735C>T (p.Phe245=) GRCh37: ChrX:153609527 GRCh38: ChrX:154381167	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 158817173.	NM_000117.3(EMD):c.450-19C>T GRCh37: ChrX:153609223 GRCh38: ChrX:154380863	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Nov 2, 2021)	criteria provided, single submitter
Select item 158775674.	NM_000117.3(EMD):c.449+12G>A GRCh37: ChrX:153609174 GRCh38: ChrX:154380814	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 158718975.	NM_000117.3(EMD):c.231C>T (p.Pro77=) GRCh37: ChrX:153608345 GRCh38: ChrX:154379985	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 158132176.	NM_000117.3(EMD):c.82+17G>A GRCh37: ChrX:153607943 GRCh38: ChrX:154379583	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 158031277.	NM_000117.3(EMD):c.83-18C>T GRCh37: ChrX:153608032 GRCh38: ChrX:154379672	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 157393178.	NM_000117.3(EMD):c.114C>A (p.Ile38=) GRCh37: ChrX:153608081 GRCh38: ChrX:154379721	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Nov 16, 2021)	criteria provided, single submitter
Select item 157207879.	NM_000117.3(EMD):c.33G>C (p.Glu11Asp) GRCh37: ChrX:153607877 GRCh38: ChrX:154379517	EMD	E11D	X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 157014980.	NM_000117.3(EMD):c.591C>T (p.Ser197=) GRCh37: ChrX:153609383 GRCh38: ChrX:154381023	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 156569981.	NM_000117.3(EMD):c.402G>C (p.Val134=) GRCh37: ChrX:153609115 GRCh38: ChrX:154380755	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 156391782.	NM_000117.3(EMD):c.403C>T (p.His135Tyr) GRCh37: ChrX:153609116 GRCh38: ChrX:154380756	EMD	H135Y	X-linked Emery-Dreifuss muscular dystrophy	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 155877183.	NM_000117.3(EMD):c.188-16C>T GRCh37: ChrX:153608286 GRCh38: ChrX:154379926	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 155702484.	NM_000117.3(EMD):c.534C>T (p.Asp178=) GRCh37: ChrX:153609326 GRCh38: ChrX:154380966	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 154355885.	NM_000117.3(EMD):c.15A>G (p.Ala5=) GRCh37: ChrX:153607859 GRCh38: ChrX:154379499	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 153996086.	NM_000117.3(EMD):c.114C>T (p.Ile38=) GRCh37: ChrX:153608081 GRCh38: ChrX:154379721	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 153368087.	NM_000117.3(EMD):c.309G>A (p.Arg103=) GRCh37: ChrX:153608637 GRCh38: ChrX:154380277	EMD		X-linked Emery-Dreifuss muscular dystrophy	Likely benign (Jul 21, 2021)	criteria provided, single submitter
Select item 151949588.	NM_000117.3(EMD):c.92G>T (p.Arg31Leu) GRCh37: ChrX:153608059 GRCh38: ChrX:154379699	EMD	R31L	Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151381789.	NM_000117.3(EMD):c.680_684del (p.Gly227fs) GRCh37: ChrX:153609471-153609475 GRCh38: ChrX:154381111-154381115	EMD	G227fs	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 151284590.	NM_000117.3(EMD):c.631C>T (p.Arg211Cys) GRCh37: ChrX:153609423 GRCh38: ChrX:154381063	EMD	R211C	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 150736491.	NM_000117.3(EMD):c.187+4A>T GRCh37: ChrX:153608158 GRCh38: ChrX:154379798	EMD		X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Sep 28, 2021)	criteria provided, single submitter
Select item 150134592.	NM_000117.3(EMD):c.406G>A (p.Asp136Asn) GRCh37: ChrX:153609119 GRCh38: ChrX:154380759	EMD	D136N	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 150030193.	NC_000023.10:g.(?_153577211)_(153640295_?)dup GRCh37: ChrX:153577211-153640295	DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN		X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 149966294.	NM_000117.3(EMD):c.718TTC[1] (p.Phe241del) GRCh37: ChrX:153609508-153609510 GRCh38: ChrX:154381148-154381150	EMD	F241del	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 149645995.	NM_000117.3(EMD):c.23C>T (p.Ser8Leu) GRCh37: ChrX:153607867 GRCh38: ChrX:154379507	EMD	S8L	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 149573296.	NM_000117.3(EMD):c.422C>T (p.Ser141Phe) GRCh37: ChrX:153609135 GRCh38: ChrX:154380775	EMD	S141F	X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 149192797.	NM_000117.3(EMD):c.631C>G (p.Arg211Gly) GRCh37: ChrX:153609423 GRCh38: ChrX:154381063	EMD	R211G	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 148961898.	NM_000117.3(EMD):c.52C>A (p.Arg18=) GRCh37: ChrX:153607896 GRCh38: ChrX:154379536	EMD		X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 148348199.	NM_000117.3(EMD):c.641G>C (p.Gly214Ala) GRCh37: ChrX:153609433 GRCh38: ChrX:154381073	EMD	G214A	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 1472337100.	NM_000117.3(EMD):c.623C>G (p.Pro208Arg) GRCh37: ChrX:153609415 GRCh38: ChrX:154381055	EMD	P208R	X-linked Emery-Dreifuss muscular dystrophy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter

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