ClinVar for MedGen (Select 777148) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25003461.	NM_004006.3:c.(6438+1_6439-1)_(6614+1_6615-1)del	DMD		Dilated cardiomyopathy 3B	Pathogenic (Mar 3, 2023)	criteria provided, single submitter
Select item 25003042.	NM_001105206.3(LAMA4):c.945C>G (p.Asn315Lys) GRCh37: Chr6:112508673 GRCh38: Chr6:112187471	LAMA4	N308K, N315K	Dilated cardiomyopathy 3B	Uncertain significance (Mar 20, 2023)	criteria provided, single submitter
Select item 19667483.	NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs) GRCh37: ChrX:31986456-31986457 GRCh38: ChrX:31968339-31968340	DMD	R861fs, R2197fs, R2201fs, R2205fs, R2082fs, R864fs	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Becker muscular dystrophy	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18064024.	NM_004006.3(DMD):c.3786+5G>C GRCh37: ChrX:32466568 GRCh38: ChrX:32448451	DMD		Dilated cardiomyopathy 3B	Uncertain significance (Dec 16, 2022)	criteria provided, single submitter
Select item 18049255.	NM_004006.3(DMD):c.4180G>T (p.Ala1394Ser) GRCh37: ChrX:32429922 GRCh38: ChrX:32411805	DMD	A1271S, A1386S, A1390S, A1394S, A50S, A53S	Dilated cardiomyopathy 3B	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 16994676.	NM_004006.3(DMD):c.5582T>C (p.Leu1861Pro) GRCh37: ChrX:32364064 GRCh38: ChrX:32345947	DMD	L1738P, L1853P, L1857P, L1861P, L517P, L520P	Dilated cardiomyopathy 3B	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 16559697.	NM_004006.3(DMD):c.6117+15C>T GRCh37: ChrX:32328184 GRCh38: ChrX:32310067	DMD		Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Duchenne muscular dystrophy	Likely benign (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16435198.	NM_004006.3(DMD):c.2381-7T>G GRCh37: ChrX:32509642 GRCh38: ChrX:32491525	DMD		Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Duchenne muscular dystrophy	Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16204729.	NM_004006.3(DMD):c.11031A>G (p.Gly3677=) GRCh37: ChrX:31144774 GRCh38: ChrX:31126657	DMD		Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Duchenne muscular dystrophy	Likely benign (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151946610.	NM_004006.3(DMD):c.10915T>C (p.Ser3639Pro) GRCh37: ChrX:31164414 GRCh38: ChrX:31146297	DMD	S1069P, S1179P, S2295P, S3631P, S3639P, S1166P, S571P, S910P, S2298P, S3516P, S3635P, S558P	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Oct 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 148957911.	NM_004006.3(DMD):c.7490G>T (p.Arg2497Met) GRCh37: ChrX:31792129 GRCh38: ChrX:31774012	DMD	R37M, R1153M, R2489M, R2493M, R2497M, R1156M, R2374M	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148780612.	NM_004006.3(DMD):c.5146G>A (p.Val1716Met) GRCh37: ChrX:32382707 GRCh38: ChrX:32364590	DMD	V375M, V1712M, V1593M, V1716M, V372M, V1708M	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148213313.	NM_004006.3(DMD):c.1915A>C (p.Lys639Gln) GRCh37: ChrX:32583896 GRCh38: ChrX:32565779	DMD	K516Q, K639Q, K631Q, K635Q	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146763714.	NM_004006.3(DMD):c.2017C>G (p.Gln673Glu) GRCh37: ChrX:32563427 GRCh38: ChrX:32545310	DMD	Q665E, Q673E, Q550E, Q669E	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144729615.	NM_004006.3(DMD):c.4477G>A (p.Val1493Met) GRCh37: ChrX:32407659 GRCh38: ChrX:32389542	DMD	V1370M, V1489M, V149M, V1493M, V1485M, V152M	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142702716.	NM_004006.3(DMD):c.4483C>G (p.Gln1495Glu) GRCh37: ChrX:32407653 GRCh38: ChrX:32389536	DMD	Q151E, Q1495E, Q154E, Q1487E, Q1491E, Q1372E	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy, Cardiovascular phenotype	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140376917.	NM_004006.3(DMD):c.8072T>C (p.Leu2691Pro) GRCh37: ChrX:31645935 GRCh38: ChrX:31627818	DMD	L1350P, L231P, L2683P, L1347P, L2687P, L2568P, L2691P	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Nov 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 138754718.	NM_004006.3(DMD):c.3619G>A (p.Ala1207Thr) GRCh37: ChrX:32466740 GRCh38: ChrX:32448623	DMD	A1084T, A1203T, A1207T, A1199T	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138426719.	NM_004006.3(DMD):c.4987G>A (p.Val1663Ile) GRCh37: ChrX:32383175 GRCh38: ChrX:32365058	DMD	V1659I, V1663I, V1540I, V1655I, V322I, V319I	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Mar 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138298620.	NM_004006.3(DMD):c.2273A>G (p.Asp758Gly) GRCh37: ChrX:32536144 GRCh38: ChrX:32518027	DMD	D750G, D758G, D635G, D754G	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy, Cardiovascular phenotype	Uncertain significance (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137694821.	NM_004006.3(DMD):c.960G>A (p.Gln320=) GRCh37: ChrX:32715987 GRCh38: ChrX:32697870	DMD		Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Feb 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137378022.	NM_004006.3(DMD):c.5922+3G>C GRCh37: ChrX:32360214 GRCh38: ChrX:32342097	DMD		Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Becker muscular dystrophy, not specified, Duchenne muscular dystrophy	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136989423.	NM_004006.3(DMD):c.5022G>T (p.Leu1674Phe) GRCh37: ChrX:32383140 GRCh38: ChrX:32365023	DMD	L1551F, L1674F, L1666F, L1670F, L330F, L333F	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy, Cardiovascular phenotype	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134607524.	NM_004006.3(DMD):c.803T>C (p.Leu268Ser) GRCh37: ChrX:32717257 GRCh38: ChrX:32699140	DMD	L264S, L268S, L145S, L260S	DMD-related condition, Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Sep 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133065625.	NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp) GRCh37: ChrX:32407732 GRCh38: ChrX:32389615	DMD	E124D, E127D, E1345D, E1460D, E1464D, E1468D	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132857326.	NM_004006.3(DMD):c.1826A>G (p.Asp609Gly) GRCh37: ChrX:32583985 GRCh38: ChrX:32565868	DMD	D486G, D601G, D605G, D609G	Becker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, not provided	Uncertain significance (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132423827.	NM_004006.3(DMD):c.6763-2A>G GRCh37: ChrX:31947864 GRCh38: ChrX:31929747	DMD		Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, not provided	Likely pathogenic (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132234028.	NM_004006.3(DMD):c.1375G>T (p.Glu459Ter) GRCh37: ChrX:32632527 GRCh38: ChrX:32614410	DMD	E336, E451, E455, E459	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128547029.	NM_004006.3(DMD):c.4684del (p.Arg1562fs) GRCh37: ChrX:32398788 GRCh38: ChrX:32380671	DMD	R1439fs, R1554fs, R1558fs, R1562fs, R218fs, R221fs	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B	Pathogenic/Likely pathogenic (Dec 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 125550730.	NM_004006.3(DMD):c.6290+27T>A GRCh37: ChrX:32305619 GRCh38: ChrX:32287502	DMD		Duchenne muscular dystrophy, not provided, Dilated cardiomyopathy 3B	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119925931.	NM_004006.3(DMD):c.4768A>G (p.Thr1590Ala) GRCh37: ChrX:32398704 GRCh38: ChrX:32380587	DMD	T1467A, T1582A, T1586A, T1590A, T246A, T249A	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119925832.	NM_004006.3(DMD):c.2335G>C (p.Asp779His) GRCh37: ChrX:32519917 GRCh38: ChrX:32501800	DMD	D656H, D771H, D775H, D779H	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119925733.	NM_004006.3(DMD):c.888C>A (p.Phe296Leu) GRCh37: ChrX:32716059 GRCh38: ChrX:32697942	DMD	F173L, F288L, F292L, F296L	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119925634.	NM_004006.3(DMD):c.610A>G (p.Arg204Gly) GRCh37: ChrX:32827649 GRCh38: ChrX:32809532	DMD	R196G, R200G, R204G, R81G	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 117749135.	NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys) GRCh37: ChrX:32459329 GRCh38: ChrX:32441212	DMD	G1174C, G1289C, G1293C, G1297C	not provided, Duchenne muscular dystrophy	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117629536.	NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys) GRCh37: ChrX:32360276 GRCh38: ChrX:32342159	DMD	R1832C, R1947C, R1951C, R1955C, R611C, R614C	Duchenne muscular dystrophy, Cardiovascular phenotype, not provided, Duchenne muscular dystrophy, Becker muscular dystrophy, Dilated cardiomyopathy 3B	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 116867437.	NM_004006.3(DMD):c.1742C>T (p.Ala581Val) GRCh37: ChrX:32591717 GRCh38: ChrX:32573600	DMD	A458V, A573V, A577V, A581V	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy	Benign/Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107227638.	NM_004006.3(DMD):c.1603-2A>T GRCh37: ChrX:32591965 GRCh38: ChrX:32573848	DMD		Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Pathogenic (Dec 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105275839.	NM_004006.3(DMD):c.2233C>G (p.Pro745Ala) GRCh37: ChrX:32536184 GRCh38: ChrX:32518067	DMD	P622A, P737A, P741A, P745A	Duchenne muscular dystrophy, Duchenne muscular dystrophy, Becker muscular dystrophy, Dilated cardiomyopathy 3B	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104323340.	NM_004006.3(DMD):c.3029C>T (p.Ala1010Val) GRCh37: ChrX:32486748 GRCh38: ChrX:32468631	DMD	A1006V, A1002V, A1010V, A887V	Cardiovascular phenotype, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103073541.	NM_004006.3(DMD):c.4048C>T (p.Arg1350Cys) GRCh37: ChrX:32456381 GRCh38: ChrX:32438264	DMD	R1342C, R1346C, R1227C, R1350C	Dilated cardiomyopathy 3B, not provided, Duchenne muscular dystrophy	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103073442.	NM_004006.3(DMD):c.10271C>T (p.Ser3424Leu) GRCh37: ChrX:31191713 GRCh38: ChrX:31173596	DMD	S3416L, S964L, S2080L, S3424L, S343L, S2083L, S3301L, S356L, S3420L, S695L, S951L	Dilated cardiomyopathy 3B	Uncertain significance (Jun 8, 2020)	criteria provided, single submitter
Select item 102717343.	NM_004006.3(DMD):c.2346A>T (p.Arg782Ser) GRCh37: ChrX:32519906 GRCh38: ChrX:32501789	DMD	R659S, R774S, R778S, R782S	Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Cardiovascular phenotype, Duchenne muscular dystrophy	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101796244.	NM_004006.3(DMD):c.1388G>T (p.Trp463Leu) GRCh37: ChrX:32632514 GRCh38: ChrX:32614397	DMD	W340L, W455L, W459L, W463L	Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, not provided, Duchenne muscular dystrophy	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97223845.	NM_004006.3(DMD):c.2079G>T (p.Gln693His) GRCh37: ChrX:32563365 GRCh38: ChrX:32545248	DMD	Q570H, Q685H, Q689H, Q693H	not provided, Duchenne muscular dystrophy, Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97049746.	NM_004006.3(DMD):c.1788G>A (p.Met596Ile) GRCh37: ChrX:32591671 GRCh38: ChrX:32573554	DMD	M473I, M588I, M592I, M596I	Duchenne muscular dystrophy, Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96601747.	NM_004006.3(DMD):c.4000G>A (p.Gly1334Arg) GRCh37: ChrX:32456429 GRCh38: ChrX:32438312	DMD	G1211R, G1326R, G1334R, G1330R	Duchenne muscular dystrophy, Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96531748.	NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp) GRCh37: ChrX:31697653 GRCh38: ChrX:31679536	DMD	R1227W, R2448W, R2563W, R2567W, R1230W, R111W, R2571W	Duchenne muscular dystrophy, Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Cardiovascular phenotype	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96465449.	NM_004006.3(DMD):c.1648C>T (p.Arg550Cys) GRCh37: ChrX:32591918 GRCh38: ChrX:32573801	DMD	R427C, R550C, R542C, R546C	Duchenne muscular dystrophy, Becker muscular dystrophy, not provided, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Becker muscular dystrophy	Uncertain significance (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96272950.	NM_004006.3(DMD):c.5156G>A (p.Arg1719His) GRCh37: ChrX:32381074 GRCh38: ChrX:32362957	DMD	R1596H, R375H, R378H, R1719H, R1711H, R1715H	Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Cardiovascular phenotype, Duchenne muscular dystrophy	Uncertain significance (Aug 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 96066151.	NM_004006.3(DMD):c.8794A>T (p.Thr2932Ser) GRCh37: ChrX:31496366 GRCh38: ChrX:31478249	DMD	T2809S, T2928S, T1591S, T203S, T472S, T2924S, T2932S, T1588S	Duchenne muscular dystrophy, Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95908552.	NM_004006.3(DMD):c.3137A>C (p.Gln1046Pro) GRCh37: ChrX:32486640 GRCh38: ChrX:32468523	DMD	Q923P, Q1038P, Q1046P, Q1042P	Duchenne muscular dystrophy, Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95289153.	NM_004006.3(DMD):c.11015-5T>A GRCh37: ChrX:31144795 GRCh38: ChrX:31126678	DMD		Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Duchenne muscular dystrophy, Cardiovascular phenotype	Uncertain significance (Dec 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94873954.	NM_004006.3(DMD):c.7514A>T (p.Asp2505Val) GRCh37: ChrX:31792105 GRCh38: ChrX:31773988	DMD	D2501V, D1164V, D2382V, D2497V, D1161V, D2505V, D45V	Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94785655.	NM_004006.3(DMD):c.2312C>T (p.Ala771Val) GRCh37: ChrX:32519940 GRCh38: ChrX:32501823	DMD	A771V, A763V, A648V, A767V	Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Cardiovascular phenotype, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Aug 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 94322056.	NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile) GRCh37: ChrX:31697565 GRCh38: ChrX:31679448	DMD	R1259I, R2592I, R1256I, R140I, R2596I, R2600I, R2477I	Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Duchenne muscular dystrophy, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 93766557.	NM_004006.3(DMD):c.8321T>G (p.Leu2774Arg) GRCh37: ChrX:31525467 GRCh38: ChrX:31507350	DMD	L1430R, L2651R, L2766R, L2770R, L45R, L1433R, L2774R, L314R	Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Duchenne muscular dystrophy	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 93742958.	NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe) GRCh37: ChrX:31227674 GRCh38: ChrX:31209557	DMD	L1827F, L3045F, L3160F, L1824F, L100F, L708F, L3164F, L3168F, L439F	Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Duchenne muscular dystrophy, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 93558959.	NM_004006.3(DMD):c.4728G>C (p.Met1576Ile) GRCh37: ChrX:32398744 GRCh38: ChrX:32380627	DMD	M1572I, M1576I, M1453I, M1568I, M235I, M232I	Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Duchenne muscular dystrophy	Uncertain significance (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93199860.	NM_004006.3(DMD):c.4345-3C>G GRCh37: ChrX:32407794 GRCh38: ChrX:32389677	DMD		not provided, Dilated cardiomyopathy 3B	Conflicting interpretations of pathogenicity (Dec 1, 2021)	criteria provided, conflicting interpretations
Select item 93197861.	NM_004006.3(DMD):c.9980_9981insTAG (p.Tyr3326_Arg3327insSer) GRCh37: ChrX:31198592-31198593 GRCh38: ChrX:31180475-31180476	DMD		Dilated cardiomyopathy 3B	Likely pathogenic (Apr 24, 2019)	criteria provided, single submitter
Select item 93145862.	NM_004006.3(DMD):c.10210dup (p.Asp3404fs) GRCh37: ChrX:31196798-31196799 GRCh38: ChrX:31178681-31178682	DMD	D2060fs, D2063fs, D944fs, D675fs, D3281fs, D336fs, D3396fs, D3404fs, D3400fs	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B	Pathogenic (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93116763.	NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp) GRCh37: ChrX:31196796 GRCh38: ChrX:31178679	DMD	N676D, N945D, N2064D, N3282D, N337D, N2061D, N3397D, N3401D, N3405D	Becker muscular dystrophy, Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Dilated cardiomyopathy 3B	Uncertain significance (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93112964.	NM_004006.3(DMD):c.2451G>C (p.Gln817His) GRCh37: ChrX:32509565 GRCh38: ChrX:32491448	DMD	Q809H, Q694H, Q813H, Q817H	Dilated cardiomyopathy 3B	Uncertain significance (Jul 8, 2019)	criteria provided, single submitter
Select item 93075265.	NM_004006.3(DMD):c.649+26G>T GRCh37: ChrX:32827584 GRCh38: ChrX:32809467	DMD		Dilated cardiomyopathy 3B	Uncertain significance (Aug 27, 2019)	criteria provided, single submitter
Select item 93042366.	NM_004006.3(DMD):c.4375del (p.Arg1459fs) GRCh37: ChrX:32407761 GRCh38: ChrX:32389644	DMD	R115fs, R1336fs, R1451fs, R118fs, R1455fs, R1459fs	Dilated cardiomyopathy 3B	Pathogenic (Feb 22, 2019)	criteria provided, single submitter
Select item 91525767.	NM_004006.3(DMD):c.4120G>A (p.Glu1374Lys) GRCh37: ChrX:32429982 GRCh38: ChrX:32411865	DMD	E1251K, E1370K, E1366K, E30K, E1374K, E33K	Becker muscular dystrophy, Dilated cardiomyopathy 3B	Uncertain significance (Feb 6, 2020)	criteria provided, multiple submitters, no conflicts
Select item 91518568.	NM_004006.3(DMD):c.8181C>T (p.Asp2727=) GRCh37: ChrX:31645826 GRCh38: ChrX:31627709	DMD		Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Conflicting interpretations of pathogenicity (Mar 21, 2022)	criteria provided, conflicting interpretations
Select item 91514669.	NM_004006.3(DMD):c.10711C>T (p.Arg3571Cys) GRCh37: ChrX:31165478 GRCh38: ChrX:31147361	DMD	R1111C, R3571C, R490C, R842C, R1001C, R503C, R3448C, R1098C, R2227C, R2230C, R3563C, R3567C	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91514570.	NM_004006.3(DMD):c.*218G>A GRCh37: ChrX:31139818 GRCh38: ChrX:31121701	DMD		Dilated cardiomyopathy 3B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91510471.	NM_004006.3(DMD):c.*2103T>A GRCh37: ChrX:31137933 GRCh38: ChrX:31119816	DMD		Dilated cardiomyopathy 3B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91510372.	NM_004006.3(DMD):c.*2268C>T GRCh37: ChrX:31137768 GRCh38: ChrX:31119651	DMD		not provided, Dilated cardiomyopathy 3B	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 91510273.	NM_004006.3(DMD):c.*2328G>A GRCh37: ChrX:31137708 GRCh38: ChrX:31119591	DMD		Dilated cardiomyopathy 3B	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 91510174.	NM_004006.3(DMD):c.*2563G>A GRCh37: ChrX:31137473 GRCh38: ChrX:31119356	DMD		Dilated cardiomyopathy 3B	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91510075.	NM_004006.3(DMD):c.*2585T>G GRCh37: ChrX:31137451 GRCh38: ChrX:31119334	DMD		Dilated cardiomyopathy 3B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91462176.	NM_004006.3(DMD):c.-22G>A GRCh37: ChrX:33229451 GRCh38: ChrX:33211334	DMD		Dilated cardiomyopathy 3B	Likely benign (Aug 30, 2017)	criteria provided, single submitter
Select item 91402977.	NM_004006.3(DMD):c.4244C>G (p.Ser1415Cys) GRCh37: ChrX:32408288 GRCh38: ChrX:32390171	DMD	S1411C, S1292C, S71C, S1407C, S74C, S1415C	not provided, Dilated cardiomyopathy 3B	Uncertain significance (Feb 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91398878.	NM_004006.3(DMD):c.6284G>T (p.Arg2095Leu) GRCh37: ChrX:32305652 GRCh38: ChrX:32287535	DMD	R1972L, R2087L, R2091L, R2095L, R751L, R754L	Dilated cardiomyopathy 3B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91398779.	NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly) GRCh37: ChrX:31950336 GRCh38: ChrX:31932219	DMD	E2085G, E2200G, E2204G, E2208G, E864G, E867G	Duchenne muscular dystrophy, not provided, Dilated cardiomyopathy 3B, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 91390380.	NM_004006.3(DMD):c.*489C>T GRCh37: ChrX:31139547 GRCh38: ChrX:31121430	DMD		not provided, Dilated cardiomyopathy 3B	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 91390281.	NM_004006.3(DMD):c.*505A>G GRCh37: ChrX:31139531 GRCh38: ChrX:31121414	DMD		Dilated cardiomyopathy 3B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91390182.	NM_004006.3(DMD):c.*571A>G GRCh37: ChrX:31139465 GRCh38: ChrX:31121348	DMD		Dilated cardiomyopathy 3B	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91390083.	NM_004006.3(DMD):c.*809C>T GRCh37: ChrX:31139227 GRCh38: ChrX:31121110	DMD		Dilated cardiomyopathy 3B	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91389984.	NM_004006.3(DMD):c.*848C>T GRCh37: ChrX:31139188 GRCh38: ChrX:31121071	DMD		Dilated cardiomyopathy 3B	Uncertain significance (Feb 9, 2018)	criteria provided, single submitter
Select item 91389885.	NM_004006.3(DMD):c.*855G>A GRCh37: ChrX:31139181 GRCh38: ChrX:31121064	DMD		Dilated cardiomyopathy 3B	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91372686.	NM_004006.3(DMD):c.1602+13T>A GRCh37: ChrX:32613861 GRCh38: ChrX:32595744	DMD		Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 91367487.	NM_004006.3(DMD):c.2894C>A (p.Pro965His) GRCh37: ChrX:32490336 GRCh38: ChrX:32472219	DMD	P842H, P957H, P961H, P965H	Dilated cardiomyopathy 3B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91363388.	NM_004006.3(DMD):c.4942T>G (p.Leu1648Val) GRCh37: ChrX:32383220 GRCh38: ChrX:32365103	DMD	L1525V, L1648V, L307V, L1640V, L1644V, L304V	Duchenne muscular dystrophy, Cardiovascular phenotype, Dilated cardiomyopathy 3B	Conflicting interpretations of pathogenicity (Apr 18, 2023)	criteria provided, conflicting interpretations
Select item 91359389.	NM_004006.3(DMD):c.7084C>T (p.Pro2362Ser) GRCh37: ChrX:31893319 GRCh38: ChrX:31875202	DMD	P1021S, P2239S, P1018S, P2354S, P2358S, P2362S	Duchenne muscular dystrophy, Dilated cardiomyopathy 3B	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91355790.	NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu) GRCh37: ChrX:31496275 GRCh38: ChrX:31478158	DMD	P2958L, P1621L, P502L, P1618L, P233L, P2839L, P2954L, P2962L	not specified, Duchenne muscular dystrophy, Dilated cardiomyopathy 3B, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Aug 9, 2023)	criteria provided, conflicting interpretations
Select item 91351991.	NM_004006.3(DMD):c.*1023G>A GRCh37: ChrX:31139013 GRCh38: ChrX:31120896	DMD		Dilated cardiomyopathy 3B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91351892.	NM_004006.3(DMD):c.*1031G>A GRCh37: ChrX:31139005 GRCh38: ChrX:31120888	DMD		Dilated cardiomyopathy 3B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91351793.	NM_004006.3(DMD):c.*1035A>G GRCh37: ChrX:31139001 GRCh38: ChrX:31120884	DMD		Dilated cardiomyopathy 3B	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91262394.	NM_004006.3(DMD):c.1704+9T>C GRCh37: ChrX:32591853 GRCh38: ChrX:32573736	DMD		Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 91262295.	NM_004006.3(DMD):c.1896G>A (p.Lys632=) GRCh37: ChrX:32583915 GRCh38: ChrX:32565798	DMD		Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Conflicting interpretations of pathogenicity (Apr 12, 2022)	criteria provided, conflicting interpretations
Select item 91257396.	NM_004006.3(DMD):c.3527C>A (p.Ala1176Asp) GRCh37: ChrX:32472855 GRCh38: ChrX:32454738	DMD	A1172D, A1176D, A1168D, A1053D	Dilated cardiomyopathy 3B	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91252297.	NM_004006.3(DMD):c.5481G>T (p.Leu1827Phe) GRCh37: ChrX:32364165 GRCh38: ChrX:32346048	DMD	L1704F, L1819F, L1823F, L483F, L486F, L1827F	Dilated cardiomyopathy 3B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91252198.	NM_004006.3(DMD):c.5567C>T (p.Thr1856Ile) GRCh37: ChrX:32364079 GRCh38: ChrX:32345962	DMD	T1852I, T512I, T515I, T1733I, T1848I, T1856I	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91247699.	NM_004006.3(DMD):c.7236G>A (p.Ala2412=) GRCh37: ChrX:31838165 GRCh38: ChrX:31820048	DMD		Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 912475100.	NM_004006.3(DMD):c.7366A>G (p.Ile2456Val) GRCh37: ChrX:31792253 GRCh38: ChrX:31774136	DMD	I1115V, I2333V, I1112V, I2448V, I2452V, I2456V	Dilated cardiomyopathy 3B, Duchenne muscular dystrophy	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts

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