ClinVar for MedGen (Select 182959) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25854861.	NM_004006.3(DMD):c.607G>C (p.Ala203Pro) GRCh37: ChrX:32827652 GRCh38: ChrX:32809535	DMD	A199P, A203P, A80P, A195P	Becker muscular dystrophy	Uncertain significance	criteria provided, single submitter
Select item 25809772.	NM_004006.3(DMD):c.8800G>C (p.Glu2934Gln) GRCh37: ChrX:31496360 GRCh38: ChrX:31478243	DMD	E1590Q, E1593Q, E205Q, E2811Q, E2926Q, E2930Q, E2934Q, E474Q	Becker muscular dystrophy	Uncertain significance (Mar 5, 2020)	criteria provided, single submitter
Select item 25783793.	NM_004006.3(DMD):c.3276+2T>C GRCh37: ChrX:32482701 GRCh38: ChrX:32464584	DMD		Becker muscular dystrophy	Likely pathogenic	no assertion criteria provided
Select item 25065324.	GRCh37/hg19 Xp21.1(chrX:31950355-32305635) GRCh37: ChrX:31950355-32305635	DMD		Becker muscular dystrophy	Likely pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 24994875.	NM_004006.3(DMD):c.6291-13537A>G GRCh37: ChrX:32248717 GRCh38: ChrX:32230600	DMD		Becker muscular dystrophy	Likely pathogenic (Apr 21, 2021)	criteria provided, single submitter
Select item 19667486.	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 18064437.	NM_004006.3(DMD):c.10234del (p.Thr3411_Leu3412insTer) GRCh37: ChrX:31196077 GRCh38: ChrX:31177960	DMD		Becker muscular dystrophy	Likely pathogenic (Dec 16, 2022)	criteria provided, single submitter
Select item 18064428.	NM_004006.3(DMD):c.10232del (p.Thr3411fs) GRCh37: ChrX:31196079 GRCh38: ChrX:31177962	DMD	T2067fs, T2070fs, T3288fs, T3403fs, T3407fs, T3411fs, T343fs, T682fs, T951fs	Becker muscular dystrophy	Likely pathogenic (Dec 16, 2022)	criteria provided, single submitter
Select item 18064419.	NM_004006.3(DMD):c.9946_9947delinsAT (p.Cys3316Ile) GRCh37: ChrX:31200882-31200883 GRCh38: ChrX:31182765-31182766	DMD	C1972I, C1975I, C248I, C3193I, C3308I, C3312I, C3316I, C587I, C856I	Becker muscular dystrophy	Uncertain significance (Dec 16, 2022)	criteria provided, single submitter
Select item 180644010.	NM_004006.3(DMD):c.9973A>G (p.Arg3325Gly) GRCh37: ChrX:31200856 GRCh38: ChrX:31182739	DMD	R1981G, R1984G, R257G, R3202G, R3317G, R3321G, R3325G, R596G, R865G	Becker muscular dystrophy	Uncertain significance (Dec 16, 2022)	criteria provided, single submitter
Select item 180643911.	NM_004006.3(DMD):c.1704+2T>C GRCh37: ChrX:32591860 GRCh38: ChrX:32573743	DMD		Becker muscular dystrophy	Likely pathogenic (Dec 16, 2022)	criteria provided, single submitter
Select item 180643812.	NM_004006.3(DMD):c.689T>G (p.Met230Arg) GRCh37: ChrX:32717371 GRCh38: ChrX:32699254	DMD	M107R, M222R, M226R, M230R	Becker muscular dystrophy	Uncertain significance (Dec 16, 2022)	criteria provided, single submitter
Select item 172685413.	NM_004006.3(DMD):c.9219T>A (p.Tyr3073Ter) GRCh37: ChrX:31341720 GRCh38: ChrX:31323603	DMD	Y1729, Y1732, Y2950, Y3065, Y3069, Y3073, Y344, Y613	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172663014.	NM_004006.3(DMD):c.9957T>A (p.Cys3319Ter) GRCh37: ChrX:31200872 GRCh38: ChrX:31182755	DMD	C1975, C1978, C251, C3196, C3311, C3315, C3319, C590, C859*	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 172659615.	NM_004006.3(DMD):c.4943T>A (p.Leu1648Ter) GRCh37: ChrX:32383219 GRCh38: ChrX:32365102	DMD	L1525, L1640, L1644, L1648, L304, L307	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172585516.	NM_004006.3(DMD):c.3160C>T (p.Gln1054Ter) GRCh37: ChrX:32486617 GRCh38: ChrX:32468500	DMD	Q1046, Q1050, Q1054, Q931	Duchenne muscular dystrophy, Duchenne muscular dystrophy, Becker muscular dystrophy	Pathogenic/Likely pathogenic (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172575117.	NM_004006.3(DMD):c.986C>A (p.Ser329Ter) GRCh37: ChrX:32663244 GRCh38: ChrX:32645127	DMD	S206, S321, S325, S329	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172552618.	NM_004006.3(DMD):c.9284T>A (p.Leu3095Ter) GRCh37: ChrX:31279074 GRCh38: ChrX:31260957	DMD	L1751, L1754, L27, L2972, L3087, L3091, L3095, L366, L635*	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172552019.	NM_004006.3(DMD):c.9856A>T (p.Arg3286Ter) GRCh37: ChrX:31200973 GRCh38: ChrX:31182856	DMD	R1942, R1945, R218, R3163, R3278, R3282, R3286, R557, R826*	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172551620.	NM_004006.3(DMD):c.3928G>T (p.Glu1310Ter) GRCh37: ChrX:32456501 GRCh38: ChrX:32438384	DMD	E1187, E1302, E1306, E1310	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172549121.	NM_004006.3(DMD):c.2692A>T (p.Lys898Ter) GRCh37: ChrX:32503147 GRCh38: ChrX:32485030	DMD	K775, K890, K894, K898	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 172523922.	NM_004006.3(DMD):c.1840A>T (p.Lys614Ter) GRCh37: ChrX:32583971 GRCh38: ChrX:32565854	DMD	K491, K606, K610, K614	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172503023.	NM_004006.3(DMD):c.5251A>T (p.Lys1751Ter) GRCh37: ChrX:32380979 GRCh38: ChrX:32362862	DMD	K1628, K1743, K1747, K1751, K407, K410	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 172499524.	NM_004006.3(DMD):c.9534T>A (p.Cys3178Ter) GRCh37: ChrX:31227644 GRCh38: ChrX:31209527	DMD	C110, C1834, C1837, C3055, C3170, C3174, C3178, C449, C718*	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172489625.	NM_004006.3(DMD):c.5548A>T (p.Lys1850Ter) GRCh37: ChrX:32364098 GRCh38: ChrX:32345981	DMD	K1727, K1842, K1846, K1850, K506, K509	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172471326.	NM_004006.3(DMD):c.5767A>T (p.Lys1923Ter) GRCh37: ChrX:32360372 GRCh38: ChrX:32342255	DMD	K1800, K1915, K1919, K1923, K579, K582	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172430427.	NM_004006.3(DMD):c.4715T>A (p.Leu1572Ter) GRCh37: ChrX:32398757 GRCh38: ChrX:32380640	DMD	L1449, L1564, L1568, L1572, L228, L231	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 172425928.	NM_004006.3(DMD):c.3184A>T (p.Lys1062Ter) GRCh37: ChrX:32482795 GRCh38: ChrX:32464678	DMD	K1054, K1058, K1062, K939	Duchenne muscular dystrophy, Duchenne muscular dystrophy, Becker muscular dystrophy	Pathogenic/Likely pathogenic (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172424429.	NM_004006.3(DMD):c.1346T>A (p.Leu449Ter) GRCh37: ChrX:32632556 GRCh38: ChrX:32614439	DMD	L326, L441, L445, L449	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172418330.	NM_004006.3(DMD):c.5584A>T (p.Lys1862Ter) GRCh37: ChrX:32364062 GRCh38: ChrX:32345945	DMD	K1739, K1854, K1858, K1862, K518, K521	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Jan 31, 2022)	criteria provided, single submitter
Select item 172418031.	NM_004006.3(DMD):c.2873C>A (p.Ser958Ter) GRCh37: ChrX:32490357 GRCh38: ChrX:32472240	DMD	S835, S950, S954, S958	Duchenne muscular dystrophy, Becker muscular dystrophy	Likely pathogenic (Jan 31, 2022)	criteria provided, single submitter
Select item 170941232.	NM_004006.3(DMD):c.3327T>A (p.Asn1109Lys) GRCh37: ChrX:32481661 GRCh38: ChrX:32463544	DMD	N1101K, N1105K, N1109K, N986K	Becker muscular dystrophy	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 170935133.	NM_004006.3(DMD):c.336_337delinsTT (p.Trp112_Asn113delinsCysTyr) GRCh37: ChrX:32841432-32841433 GRCh38: ChrX:32823315-32823316	DMD		Becker muscular dystrophy	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 170752234.	NM_004006.3:c.(2292+1_2293-1)_(2622+1_2623-1)del	DMD		Becker muscular dystrophy	Likely pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 168575035.	NM_004006.3(DMD):c.261_264+3del GRCh37: ChrX:32862897-32862903 GRCh38: ChrX:32844780-32844786	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168574936.	NM_004006.3(DMD):c.633dup (p.Leu212fs) GRCh37: ChrX:32827625-32827626 GRCh38: ChrX:32809508-32809509	DMD	L204fs, L208fs, L212fs, L89fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168574837.	NM_004006.3(DMD):c.732_733insCAAT (p.Ile245fs) GRCh37: ChrX:32717327-32717328 GRCh38: ChrX:32699210-32699211	DMD	I122fs, I237fs, I241fs, I245fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168574738.	NM_004006.3(DMD):c.1098dup (p.Glu367fs) GRCh37: ChrX:32663131-32663132 GRCh38: ChrX:32645014-32645015	DMD	E244fs, E359fs, E363fs, E367fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168574639.	NM_004006.3(DMD):c.1480A>T (p.Lys494Ter) GRCh37: ChrX:32632422 GRCh38: ChrX:32614305	DMD	K371, K486, K490, K494	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168574540.	NM_004006.3(DMD):c.1602+2T>A GRCh37: ChrX:32613872 GRCh38: ChrX:32595755	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168574441.	NC_000023.11:g.32565874_32565883dup GRCh37: ChrX:32583988-32583989 GRCh38: ChrX:32565871-32565872	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168574342.	NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter) GRCh37: ChrX:32583948 GRCh38: ChrX:32565831	DMD	Y498, Y613, Y617, Y621	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168574243.	NM_004006.3(DMD):c.1941dup (p.Ala648fs) GRCh37: ChrX:32583869-32583870 GRCh38: ChrX:32565752-32565753	DMD	A525fs, A640fs, A644fs, A648fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168574144.	NM_004006.3(DMD):c.2215_2216del (p.Glu739fs) GRCh37: ChrX:32536201-32536202 GRCh38: ChrX:32518084-32518085	DMD	E616fs, E731fs, E735fs, E739fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168574045.	NM_004006.3(DMD):c.2293-2_2294del GRCh37: ChrX:32519958-32519961 GRCh38: ChrX:32501841-32501844	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168573946.	NM_004006.3(DMD):c.2305G>T (p.Glu769Ter) GRCh37: ChrX:32519947 GRCh38: ChrX:32501830	DMD	E646, E761, E765, E769	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168573847.	NM_004006.3(DMD):c.2499del (p.Ile833fs) GRCh37: ChrX:32509517 GRCh38: ChrX:32491400	DMD	I710fs, I825fs, I829fs, I833fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168573748.	NM_004006.3(DMD):c.3969_3970insG (p.Arg1324fs) GRCh37: ChrX:32456459-32456460 GRCh38: ChrX:32438342-32438343	DMD	R1201fs, R1316fs, R1320fs, R1324fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168573649.	NM_004006.3(DMD):c.4052_4053insCC (p.Trp1351fs) GRCh37: ChrX:32456376-32456377 GRCh38: ChrX:32438259-32438260	DMD	W1228fs, W1343fs, W1347fs, W1351fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168573550.	NC_000023.11:g.32390170_32390182del GRCh37: ChrX:32408285-32408297 GRCh38: ChrX:32390168-32390180	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168573451.	NM_004006.3(DMD):c.4388_4394dup (p.Asn1466fs) GRCh37: ChrX:32407741-32407742 GRCh38: ChrX:32389624-32389625	DMD	N122fs, N125fs, N1343fs, N1458fs, N1462fs, N1466fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168573352.	NM_004006.3(DMD):c.4723A>T (p.Lys1575Ter) GRCh37: ChrX:32398749 GRCh38: ChrX:32380632	DMD	K1452, K1567, K1571, K1575, K231, K234	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168573153.	NM_004006.3(DMD):c.4786A>T (p.Lys1596Ter) GRCh37: ChrX:32398686 GRCh38: ChrX:32380569	DMD	K1473, K1588, K1592, K1596, K252, K255	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168573054.	NM_004006.3(DMD):c.4872_4873del (p.Lys1625fs) GRCh37: ChrX:32383289-32383290 GRCh38: ChrX:32365172-32365173	DMD	K1502fs, K1617fs, K1621fs, K1625fs, K281fs, K284fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168572955.	NM_004006.3(DMD):c.5078del (p.Lys1693fs) GRCh37: ChrX:32382775 GRCh38: ChrX:32364658	DMD	K1570fs, K1685fs, K1689fs, K1693fs, K349fs, K352fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168572856.	NM_004006.3(DMD):c.5131del (p.Gln1711fs) GRCh37: ChrX:32382722 GRCh38: ChrX:32364605	DMD	Q1588fs, Q1703fs, Q1707fs, Q1711fs, Q367fs, Q370fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168572757.	NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs) GRCh37: ChrX:32364117-32364120 GRCh38: ChrX:32346000-32346003	DMD	R1719fs, R1834fs, R1838fs, R1842fs, R498fs, R501fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168572558.	NM_004006.3(DMD):c.6452_6459dup (p.Gln2154fs) GRCh37: ChrX:31986610-31986611 GRCh38: ChrX:31968493-31968494	DMD	Q2031fs, Q2146fs, Q2150fs, Q2154fs, Q810fs, Q813fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168572459.	NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter) GRCh37: ChrX:31986556 GRCh38: ChrX:31968439	DMD	Q2049, Q2164, Q2168, Q2172, Q828, Q831	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168572360.	NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter) GRCh37: ChrX:31947811 GRCh38: ChrX:31929694	DMD	E2149, E2264, E2268, E2272, E928, E931	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168572261.	NM_004006.3(DMD):c.7010T>G (p.Leu2337Ter) GRCh37: ChrX:31893393 GRCh38: ChrX:31875276	DMD	L2214, L2329, L2333, L2337, L993, L996	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168572162.	NM_004006.3(DMD):c.7309+4del GRCh37: ChrX:31838088 GRCh38: ChrX:31819971	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168572063.	NM_004006.3(DMD):c.7661-2A>C GRCh37: ChrX:31697705 GRCh38: ChrX:31679588	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168571964.	NM_004006.3(DMD):c.8028-1G>A GRCh37: ChrX:31645980 GRCh38: ChrX:31627863	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168571765.	NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter) GRCh37: ChrX:31645801 GRCh38: ChrX:31627684	DMD	K1392, K1395, K2613, K2728, K2732, K2736, K276*	Becker muscular dystrophy, Duchenne muscular dystrophy, Becker muscular dystrophy	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168571666.	NM_004006.3(DMD):c.8313_8316dup (p.Val2773fs) GRCh37: ChrX:31525471-31525472 GRCh38: ChrX:31507354-31507355	DMD	V1429fs, V1432fs, V2650fs, V2765fs, V2769fs, V2773fs, V313fs, V44fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168571567.	NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter) GRCh37: ChrX:31515006 GRCh38: ChrX:31496889	DMD	E1472, E1475, E2693, E2808, E2812, E2816, E356, E87	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168571468.	NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs) GRCh37: ChrX:31341738-31341745 GRCh38: ChrX:31323621-31323628	DMD	I1721fs, I1724fs, I2942fs, I3057fs, I3061fs, I3065fs, I336fs, I605fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168571369.	NM_004006.3(DMD):c.9283_9284del (p.Leu3095fs) GRCh37: ChrX:31279074-31279075 GRCh38: ChrX:31260957-31260958	DMD	L1751fs, L1754fs, L27fs, L2972fs, L3087fs, L3091fs, L3095fs, L366fs, L635fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168571270.	NM_004006.3(DMD):c.9281_9286+2del GRCh37: ChrX:31279070-31279077 GRCh38: ChrX:31260953-31260960	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168571171.	NM_004006.3(DMD):c.9287-1G>A GRCh37: ChrX:31241239 GRCh38: ChrX:31223122	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168570972.	NM_004006.3(DMD):c.9362-1G>C GRCh37: ChrX:31227817 GRCh38: ChrX:31209700	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168570873.	NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter) GRCh37: ChrX:31227691 GRCh38: ChrX:31209574	DMD	Q1819, Q1822, Q3040, Q3155, Q3159, Q3163, Q434, Q703, Q95*	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168570774.	NM_004006.3(DMD):c.9638_9642del (p.Asp3213fs) GRCh37: ChrX:31224706-31224710 GRCh38: ChrX:31206589-31206593	DMD	D145fs, D1869fs, D1872fs, D3090fs, D3205fs, D3209fs, D3213fs, D484fs, D753fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168570675.	NM_004006.3(DMD):c.9647_9648del (p.Arg3216fs) GRCh37: ChrX:31224700-31224701 GRCh38: ChrX:31206583-31206584	DMD	R148fs, R1872fs, R1875fs, R3093fs, R3208fs, R3212fs, R3216fs, R487fs, R756fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168570576.	NM_004006.3(DMD):c.9767del (p.Gly3256fs) GRCh37: ChrX:31222118 GRCh38: ChrX:31204001	DMD	G188fs, G1912fs, G1915fs, G3133fs, G3248fs, G3252fs, G3256fs, G527fs, G796fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168570477.	NM_004006.3(DMD):c.9808-2A>G GRCh37: ChrX:31201023 GRCh38: ChrX:31182906	DMD		Becker muscular dystrophy, See cases	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168570378.	NM_004006.3(DMD):c.9853dup (p.Met3285fs) GRCh37: ChrX:31200975-31200976 GRCh38: ChrX:31182858-31182859	DMD	M1941fs, M1944fs, M217fs, M3162fs, M3277fs, M3281fs, M3285fs, M556fs, M825fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168570279.	NM_004006.3(DMD):c.9906del (p.Ala3303fs) GRCh37: ChrX:31200923 GRCh38: ChrX:31182806	DMD	A1959fs, A1962fs, A235fs, A3180fs, A3295fs, A3299fs, A3303fs, A574fs, A843fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168570180.	NM_004006.3(DMD):c.9974+2T>C GRCh37: ChrX:31200853 GRCh38: ChrX:31182736	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168570081.	NM_004006.3(DMD):c.10223+4A>G GRCh37: ChrX:31196782 GRCh38: ChrX:31178665	DMD		DMD-related condition, Becker muscular dystrophy	Conflicting interpretations of pathogenicity (Jul 29, 2023)	criteria provided, conflicting interpretations
Select item 168569782.	NM_004006.3(DMD):c.10223+5G>C GRCh37: ChrX:31196781 GRCh38: ChrX:31178664	DMD		Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168569683.	NM_004006.3(DMD):c.10677dup (p.Ala3560fs) GRCh37: ChrX:31165511-31165512 GRCh38: ChrX:31147394-31147395	DMD	A1087fs, A1100fs, A2216fs, A2219fs, A3437fs, A3552fs, A3556fs, A3560fs, A479fs, A492fs, A831fs, A990fs	Becker muscular dystrophy	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168529984.	NM_004006.3(DMD):c.3787-2A>G GRCh37: ChrX:32459433 GRCh38: ChrX:32441316	DMD		Becker muscular dystrophy	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167955985.	Single allele GRCh38: ChrX:31975246-32115751	DMD		Duchenne muscular dystrophy, Becker muscular dystrophy	Uncertain significance (May 14, 2021)	criteria provided, single submitter
Select item 165596986.	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 164351987.	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 162047288.	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 151946689.	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 148957990.	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 148780691.	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 148213392.	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 146763793.	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 144829694.	NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter) GRCh37: ChrX:31462717 GRCh38: ChrX:31444600	DMD	K1645, K529, K2981, K2866, K1648, K260, K2985, K2989	Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy	Pathogenic/Likely pathogenic (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144729695.	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 143237696.	NM_004006.3(DMD):c.4345A>T (p.Lys1449Ter) GRCh37: ChrX:32407791 GRCh38: ChrX:32389674	DMD	K108, K1326, K1449, K1441, K105, K1445	Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy	Pathogenic/Likely pathogenic (Jan 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142702797.	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 142482598.	NM_004006.3(DMD):c.9311C>A (p.Ser3104Ter) GRCh37: ChrX:31241214 GRCh38: ChrX:31223097	DMD	S1763, S3096, S1760, S2981, S3100, S36, S375, S644, S3104*	Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy	Pathogenic/Likely pathogenic (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140376999.	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 1387547100.	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

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