ClinVar for MedGen (Select 1640757) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18039641.	NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter) GRCh37: Chr2:71801397 GRCh38: Chr2:71574267	DYSF	E1068, E1069, E1082, E1083, E1099, E1100, E1113, E1114	Miyoshi muscular dystrophy 1	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 18022502.	NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs) GRCh37: Chr2:71896772-71896773 GRCh38: Chr2:71669642-71669643	DYSF	D1841fs, D1842fs, D1855fs, D1856fs, D1862fs, D1863fs, D1872fs, D1873fs, D1876fs, D1877fs, D1886fs, D1887fs, D1893fs, D1894fs	Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset	Pathogenic (Sep 21, 2022)	criteria provided, single submitter
Select item 17269953.	NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer) GRCh37: Chr2:71753434 GRCh38: Chr2:71526304	DYSF		Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 8, 2022)	criteria provided, single submitter
Select item 17269644.	NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs) GRCh37: Chr2:71871105-71871106 GRCh38: Chr2:71643975-71643976	DYSF	F1460fs, F1461fs, F1474fs, F1475fs, F1481fs, F1482fs, F1491fs, F1492fs, F1495fs, F1496fs, F1505fs, F1506fs, F1512fs, F1513fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17269085.	NM_001130987.2(DYSF):c.4053del (p.Ile1352fs) GRCh37: Chr2:71838469 GRCh38: Chr2:71611339	DYSF	I1320fs, I1321fs, I1334fs, I1335fs, I1351fs, I1352fs, I1365fs, I1366fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17268326.	NM_001130987.2(DYSF):c.2253del (p.Thr752fs) GRCh37: Chr2:71788917 GRCh38: Chr2:71561787	DYSF	T720fs, T721fs, T734fs, T735fs, T751fs, T752fs, T765fs, T766fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267337.	NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs) GRCh37: Chr2:71839896 GRCh38: Chr2:71612766	DYSF	Y1419fs, Y1420fs, Y1433fs, Y1434fs, Y1450fs, Y1451fs, Y1464fs, Y1465fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 17266928.	NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs) GRCh37: Chr2:71795159-71795160 GRCh38: Chr2:71568029-71568030	DYSF	K851fs, K852fs, K865fs, K866fs, K882fs, K883fs, K896fs, K897fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 17266349.	NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs) GRCh37: Chr2:71883308-71883310 GRCh38: Chr2:71656178-71656180	DYSF	L1495fs, L1496fs, L1509fs, L1510fs, L1516fs, L1517fs, L1526fs, L1527fs, L1530fs, L1531fs, L1540fs, L1541fs, L1547fs, L1548fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 172661010.	NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs) GRCh37: Chr2:71908206-71908207 GRCh38: Chr2:71681076-71681077	DYSF	E1994fs, E1995fs, E2008fs, E2009fs, E2015fs, E2016fs, E2025fs, E2026fs, E2029fs, E2030fs, E2039fs, E2040fs, E2046fs, E2047fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 172658611.	NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter) GRCh37: Chr2:71871166 GRCh38: Chr2:71644036	DYSF	Y1480, Y1481, Y1494, Y1495, Y1501, Y1502, Y1511, Y1512, Y1515, Y1516, Y1525, Y1526, Y1532, Y1533	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 172644712.	NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs) GRCh37: Chr2:71839896-71839897 GRCh38: Chr2:71612766-71612767	DYSF	P1418fs, P1419fs, P1432fs, P1433fs, P1449fs, P1450fs, P1463fs, P1464fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172643613.	NM_001130987.2(DYSF):c.5255del (p.Ala1752fs) GRCh37: Chr2:71892372 GRCh38: Chr2:71665242	DYSF	A1699fs, A1700fs, A1713fs, A1714fs, A1720fs, A1721fs, A1730fs, A1731fs, A1734fs, A1735fs, A1744fs, A1745fs, A1751fs, A1752fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172637214.	NM_001130987.2(DYSF):c.640del (p.Ala214fs) GRCh37: Chr2:71740928 GRCh38: Chr2:71513798	DYSF	A182fs, A183fs, A213fs, A214fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172628215.	NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter) GRCh37: Chr2:71892310 GRCh38: Chr2:71665180	DYSF	W1678, W1679, W1692, W1693, W1699, W1700, W1709, W1710, W1713, W1714, W1723, W1724, W1730, W1731	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 10, 2021)	criteria provided, single submitter
Select item 172619216.	NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs) GRCh37: Chr2:71738999-71739000 GRCh38: Chr2:71511869-71511870	DYSF	P136fs, P137fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 172618717.	NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs) GRCh37: Chr2:71892366-71892367 GRCh38: Chr2:71665236-71665237	DYSF	V1697fs, V1698fs, V1711fs, V1712fs, V1718fs, V1719fs, V1728fs, V1729fs, V1732fs, V1733fs, V1742fs, V1743fs, V1749fs, V1750fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 9, 2021)	criteria provided, single submitter
Select item 172617418.	NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs) GRCh37: Chr2:71789006-71789009 GRCh38: Chr2:71561876-71561879	DYSF	E750fs, E751fs, E764fs, E765fs, E781fs, E782fs, E795fs, E796fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172611419.	NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs) GRCh37: Chr2:71891561-71891562 GRCh38: Chr2:71664431-71664432	DYSF	Y1670fs, Y1671fs, Y1684fs, Y1685fs, Y1691fs, Y1692fs, Y1701fs, Y1702fs, Y1705fs, Y1706fs, Y1715fs, Y1716fs, Y1722fs, Y1723fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172588920.	NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter) GRCh37: Chr2:71896850 GRCh38: Chr2:71669720	DYSF	E1867, E1868, E1881, E1882, E1888, E1889, E1898, E1899, E1902, E1903, E1912, E1913, E1919, E1920	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 172572321.	NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs) GRCh37: Chr2:71766323-71766324 GRCh38: Chr2:71539193-71539194	DYSF	Y479fs, Y480fs, Y510fs, Y511fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172553622.	NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs) GRCh37: Chr2:71740937-71740938 GRCh38: Chr2:71513807-71513808	DYSF	T184fs, T185fs, T215fs, T216fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172548723.	NM_001130987.2(DYSF):c.561del (p.Gly188fs) GRCh37: Chr2:71740853 GRCh38: Chr2:71513723	DYSF	G156fs, G157fs, G187fs, G188fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172538024.	NM_001130987.2(DYSF):c.5437del (p.Leu1813fs) GRCh37: Chr2:71894621 GRCh38: Chr2:71667491	DYSF	L1760fs, L1761fs, L1774fs, L1775fs, L1781fs, L1782fs, L1791fs, L1792fs, L1795fs, L1796fs, L1805fs, L1806fs, L1812fs, L1813fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 172537625.	NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter) GRCh37: Chr2:71791308 GRCh38: Chr2:71564178	DYSF	K812, K813, K826, K827, K843, K844, K857, K858	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172536926.	NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter) GRCh37: Chr2:71788904 GRCh38: Chr2:71561774	DYSF	E715, E716, E729, E730, E746, E747, E760, E761	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 172535327.	NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs) GRCh37: Chr2:71891440-71891441 GRCh38: Chr2:71664310-71664311	DYSF	K1630fs, K1631fs, K1644fs, K1645fs, K1651fs, K1652fs, K1661fs, K1662fs, K1665fs, K1666fs, K1675fs, K1676fs, K1682fs, K1683fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172520328.	NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter) GRCh37: Chr2:71780947 GRCh38: Chr2:71553817	DYSF	Y633, Y634, Y647, Y648, Y664, Y665, Y678, Y679	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 172515729.	NM_001130987.2(DYSF):c.6073del (p.Glu2025fs) GRCh37: Chr2:71908139 GRCh38: Chr2:71681009	DYSF	E1972fs, E1973fs, E1986fs, E1987fs, E1993fs, E1994fs, E2003fs, E2004fs, E2007fs, E2008fs, E2017fs, E2018fs, E2024fs, E2025fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 172513630.	NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter) GRCh37: Chr2:71741034 GRCh38: Chr2:71513904	DYSF	K216, K217, K247, K248	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 172501531.	NM_001130987.2(DYSF):c.3251del (p.Gly1084fs) GRCh37: Chr2:71801348 GRCh38: Chr2:71574218	DYSF	G1052fs, G1053fs, G1066fs, G1067fs, G1083fs, G1084fs, G1097fs, G1098fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 172500732.	NM_001130987.2(DYSF):c.1669del (p.Tyr557fs) GRCh37: Chr2:71778263 GRCh38: Chr2:71551133	DYSF	Y525fs, Y526fs, Y539fs, Y540fs, Y556fs, Y557fs, Y570fs, Y571fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172499333.	NM_001130987.2(DYSF):c.321_322del (p.Asp108fs) GRCh37: Chr2:71730425-71730426 GRCh38: Chr2:71503295-71503296	DYSF	D107fs, D108fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172497734.	NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter) GRCh37: Chr2:71795386 GRCh38: Chr2:71568256	DYSF	K896, K897, K910, K911, K927, K928, K941, K942	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172493035.	NM_001130987.2(DYSF):c.1597del (p.Leu533fs) GRCh37: Chr2:71778190 GRCh38: Chr2:71551060	DYSF	L501fs, L502fs, L515fs, L516fs, L532fs, L533fs, L546fs, L547fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1, Qualitative or quantitative defects of dysferlin	Pathogenic/Likely pathogenic (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172489336.	NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter) GRCh37: Chr2:71797410 GRCh38: Chr2:71570280	DYSF	K1010, K1011, K1024, K1025, K979, K980, K993, K994	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172481737.	NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter) GRCh37: Chr2:71740989 GRCh38: Chr2:71513859	DYSF	K201, K202, K232, K233	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 172479938.	NM_001130987.2(DYSF):c.431del (p.Pro144fs) GRCh37: Chr2:71739019 GRCh38: Chr2:71511889	DYSF	P143fs, P144fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 172479139.	NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter) GRCh37: Chr2:71795436 GRCh38: Chr2:71568306	DYSF	W912, W913, W926, W927, W943, W944, W957, W958	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Nov 19, 2021)	criteria provided, single submitter
Select item 172478540.	NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter) GRCh37: Chr2:71892382 GRCh38: Chr2:71665252	DYSF	Y1702, Y1703, Y1716, Y1717, Y1723, Y1724, Y1733, Y1734, Y1737, Y1738, Y1747, Y1748, Y1754, Y1755	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 172474241.	NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter) GRCh37: Chr2:71753371 GRCh38: Chr2:71526241	DYSF	E359, E360, E390, E391	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172449942.	NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter) GRCh37: Chr2:71887701 GRCh38: Chr2:71660571	DYSF	Y1588, Y1589, Y1602, Y1603, Y1609, Y1610, Y1619, Y1620, Y1623, Y1624, Y1633, Y1634, Y1640, Y1641	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172443043.	NM_001130987.2(DYSF):c.994del (p.Glu332fs) GRCh37: Chr2:71744158 GRCh38: Chr2:71517028	DYSF	E300fs, E301fs, E331fs, E332fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172436044.	NM_001130987.2(DYSF):c.316del (p.Leu106fs) GRCh37: Chr2:71730415 GRCh38: Chr2:71503285	DYSF	L105fs, L106fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 172431645.	NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs) GRCh37: Chr2:71788938-71788939 GRCh38: Chr2:71561808-71561809	DYSF	Y727fs, Y728fs, Y741fs, Y742fs, Y758fs, Y759fs, Y772fs, Y773fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 172414646.	NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs) GRCh37: Chr2:71788896-71788897 GRCh38: Chr2:71561766-71561767	DYSF	I713fs, I714fs, I727fs, I728fs, I744fs, I745fs, I758fs, I759fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 172407147.	NM_001130987.2(DYSF):c.6061del (p.Ala2021fs) GRCh37: Chr2:71906362 GRCh38: Chr2:71679232	DYSF	A1968fs, A1969fs, A1982fs, A1983fs, A1989fs, A1990fs, A1999fs, A2000fs, A2003fs, A2004fs, A2013fs, A2014fs, A2020fs, A2021fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172406848.	NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs) GRCh37: Chr2:71825786-71825792 GRCh38: Chr2:71598656-71598662	DYSF	F1191fs, F1192fs, F1205fs, F1206fs, F1222fs, F1223fs, F1236fs, F1237fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172405349.	NM_001130987.2(DYSF):c.181del (p.Asp61fs) GRCh37: Chr2:71709041 GRCh38: Chr2:71481911	DYSF	D60fs, D61fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172401850.	NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs) GRCh37: Chr2:71780185-71780186 GRCh38: Chr2:71553055-71553056	DYSF	A587fs, A588fs, A601fs, A602fs, A618fs, A619fs, A632fs, A633fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 172400651.	NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter) GRCh37: Chr2:71892410 GRCh38: Chr2:71665280	DYSF	K1712, K1713, K1726, K1727, K1733, K1734, K1743, K1744, K1747, K1748, K1757, K1758, K1764, K1765	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 172399052.	NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs) GRCh37: Chr2:71730424-71730433 GRCh38: Chr2:71503294-71503303	DYSF	L106fs, L107fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 22, 2022)	criteria provided, single submitter
Select item 172397453.	NM_001130987.2(DYSF):c.3369del (p.Pro1124fs) GRCh37: Chr2:71801465 GRCh38: Chr2:71574335	DYSF	P1092fs, P1093fs, P1106fs, P1107fs, P1123fs, P1124fs, P1137fs, P1138fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 172395954.	NM_001130987.2(DYSF):c.3216del (p.Ala1073fs) GRCh37: Chr2:71797858 GRCh38: Chr2:71570728	DYSF	A1041fs, A1042fs, A1055fs, A1056fs, A1072fs, A1073fs, A1086fs, A1087fs	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 172395155.	NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter) GRCh37: Chr2:71797778 GRCh38: Chr2:71570648	DYSF	W1013, W1014, W1027, W1028, W1044, W1045, W1058, W1059	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 170855556.	NM_001130987.2(DYSF):c.907_910del (p.Phe303fs) GRCh37: Chr2:71743325-71743328 GRCh38: Chr2:71516195-71516198	DYSF	F271fs, F272fs, F302fs, F303fs	Miyoshi muscular dystrophy 1	Pathogenic	no assertion criteria provided
Select item 151596057.	NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly) GRCh37: Chr2:71797735 GRCh38: Chr2:71570605	DYSF	E1031G, E1044G, E1045G, E1013G, E1014G, E1030G, E999G, E1000G	Qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain significance (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143744258.	NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) GRCh37: Chr2:71753405 GRCh38: Chr2:71526275	DYSF	R370Q, R401Q, R371Q, R402Q	Qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 133362359.	NM_001130987.2(DYSF):c.1625del (p.Asn542fs) GRCh37: Chr2:71778218 GRCh38: Chr2:71551088	DYSF	N510fs, N511fs, N524fs, N525fs, N541fs, N542fs, N555fs, N556fs	Miyoshi muscular dystrophy 1	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 130018560.	NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) GRCh37: Chr2:71887767 GRCh38: Chr2:71660637	DYSF	E1610fs, E1611fs, E1624fs, E1625fs, E1631fs, E1632fs, E1641fs, E1642fs, E1645fs, E1646fs, E1655fs, E1656fs, E1662fs, E1663fs	Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset, not provided	Pathogenic (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130018461.	NM_001130987.2(DYSF):c.3427del (p.Glu1143fs) GRCh37: Chr2:71816747 GRCh38: Chr2:71589617	DYSF	E1111fs, E1112fs, E1125fs, E1126fs, E1142fs, E1143fs, E1156fs, E1157fs	Miyoshi muscular dystrophy 1	not provided	no assertion provided
Select item 119936062.	NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln) GRCh37: Chr2:71896286 GRCh38: Chr2:71669156	DYSF	L1811Q, L1812Q, L1825Q, L1826Q, L1832Q, L1833Q, L1842Q, L1843Q, L1846Q, L1847Q, L1856Q, L1857Q, L1863Q, L1864Q	Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1, Distal myopathy with anterior tibial onset	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119935963.	NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys) GRCh37: Chr2:71762183 GRCh38: Chr2:71535053	DYSF	N439K, N440K, N470K, N471K	Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1, Distal myopathy with anterior tibial onset	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119934164.	NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala) GRCh37: Chr2:71891552 GRCh38: Chr2:71664422	DYSF	P1667A, P1668A, P1681A, P1682A, P1688A, P1689A, P1698A, P1699A, P1702A, P1703A, P1712A, P1713A, P1719A, P1720A	Autosomal recessive limb-girdle muscular dystrophy type 2B, Qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 119934065.	NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) GRCh37: Chr2:71783177 GRCh38: Chr2:71556047	DYSF	T699M, T700M, T713M, T714M, T730M, T731M, T744M, T745M	Autosomal recessive limb-girdle muscular dystrophy type 2B, Qualitative or quantitative defects of dysferlin, not provided, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 119930366.	NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn) GRCh37: Chr2:71797053 GRCh38: Chr2:71569923	DYSF	Y1003N, Y1004N, Y958N, Y959N, Y972N, Y973N, Y989N, Y990N	Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119930267.	NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln) GRCh37: Chr2:71891427 GRCh38: Chr2:71664297	DYSF	L1625Q, L1626Q, L1639Q, L1640Q, L1646Q, L1647Q, L1656Q, L1657Q, L1660Q, L1661Q, L1670Q, L1671Q, L1677Q, L1678Q	Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119926568.	NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe) GRCh37: Chr2:71896300 GRCh38: Chr2:71669170	DYSF	L1816F, L1817F, L1830F, L1831F, L1837F, L1838F, L1847F, L1848F, L1851F, L1852F, L1861F, L1862F, L1868F, L1869F	Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 117301069.	NM_001130987.2(DYSF):c.148-91C>T GRCh37: Chr2:71708918 GRCh38: Chr2:71481788	DYSF		not provided, Miyoshi muscular dystrophy 1	Benign (Jun 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117297670.	NM_001130987.2(DYSF):c.3228+208A>C GRCh37: Chr2:71798079 GRCh38: Chr2:71570949	DYSF		Miyoshi muscular dystrophy 1	Likely benign (Jun 10, 2021)	criteria provided, single submitter
Select item 117297571.	NM_001130987.2(DYSF):c.3228+205C>A GRCh37: Chr2:71798076 GRCh38: Chr2:71570946	DYSF		Miyoshi muscular dystrophy 1	Likely benign (Jun 10, 2021)	criteria provided, single submitter
Select item 103400572.	NM_001130987.2(DYSF):c.55C>T (p.Arg19Trp) GRCh37: Chr2:71694027 GRCh38: Chr2:71466897	DYSF	R19W	Miyoshi muscular dystrophy 1	Uncertain significance (Feb 12, 2018)	criteria provided, single submitter
Select item 98955973.	NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu) GRCh37: Chr2:71892353 GRCh38: Chr2:71665223	DYSF	Q1693E, Q1694E, Q1707E, Q1708E, Q1714E, Q1715E, Q1724E, Q1725E, Q1728E, Q1729E, Q1738E, Q1739E, Q1745E, Q1746E	Qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain significance (Feb 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98425174.	NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter) GRCh37: Chr2:71908176 GRCh38: Chr2:71681046	DYSF	E1984, E1985, E1998, E1999, E2005, E2006, E2015, E2016, E2019, E2020, E2029, E2030, E2036, E2037	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Apr 23, 2019)	criteria provided, single submitter
Select item 98425075.	NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter) GRCh37: Chr2:71896333 GRCh38: Chr2:71669203	DYSF	K1827, K1828, K1841, K1842, K1848, K1849, K1858, K1859, K1862, K1863, K1872, K1873, K1879, K1880	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Mar 1, 2020)	criteria provided, single submitter
Select item 98424976.	NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter) GRCh37: Chr2:71896312 GRCh38: Chr2:71669182	DYSF	K1820, K1821, K1834, K1835, K1841, K1842, K1851, K1852, K1855, K1856, K1865, K1866, K1872, K1873	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (May 18, 2019)	criteria provided, single submitter
Select item 98424877.	NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter) GRCh37: Chr2:71892434 GRCh38: Chr2:71665304	DYSF	E1720, E1721, E1734, E1735, E1741, E1742, E1751, E1752, E1755, E1756, E1765, E1766, E1772, E1773	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Mar 2, 2020)	criteria provided, single submitter
Select item 98424778.	NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter) GRCh37: Chr2:71892425 GRCh38: Chr2:71665295	DYSF	E1717, E1718, E1731, E1732, E1738, E1739, E1748, E1749, E1752, E1753, E1762, E1763, E1769, E1770	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Jun 7, 2019)	criteria provided, single submitter
Select item 98424679.	NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter) GRCh37: Chr2:71892413 GRCh38: Chr2:71665283	DYSF	E1713, E1714, E1727, E1728, E1734, E1735, E1744, E1745, E1748, E1749, E1758, E1759, E1765, E1766	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (May 11, 2019)	criteria provided, single submitter
Select item 98424580.	NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter) GRCh37: Chr2:71892368 GRCh38: Chr2:71665238	DYSF	K1698, K1699, K1712, K1713, K1719, K1720, K1729, K1730, K1733, K1734, K1743, K1744, K1750, K1751	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (May 5, 2019)	criteria provided, single submitter
Select item 98423681.	NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter) GRCh37: Chr2:71780991 GRCh38: Chr2:71553861	DYSF	S648, S649, S662, S663, S679, S680, S693, S694	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Feb 12, 2020)	criteria provided, single submitter
Select item 98423582.	NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter) GRCh37: Chr2:71780961 GRCh38: Chr2:71553831	DYSF	W638, W639, W652, W653, W669, W670, W683, W684	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (May 31, 2019)	criteria provided, single submitter
Select item 98423483.	NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter) GRCh37: Chr2:71778211 GRCh38: Chr2:71551081	DYSF	C507, C508, C521, C522, C538, C539, C552, C553	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Aug 26, 2019)	criteria provided, single submitter
Select item 98423384.	NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter) GRCh37: Chr2:71762196 GRCh38: Chr2:71535066	DYSF	Q444, Q445, Q475, Q476	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Jan 20, 2019)	criteria provided, single submitter
Select item 98423285.	NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter) GRCh37: Chr2:71753468 GRCh38: Chr2:71526338	DYSF	L391, L392, L422, L423	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (May 4, 2019)	criteria provided, single submitter
Select item 98423186.	NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter) GRCh37: Chr2:71742771 GRCh38: Chr2:71515641	DYSF	E228, E229, E259, E260	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Dec 29, 2019)	criteria provided, single submitter
Select item 98423087.	NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter) GRCh37: Chr2:71709054 GRCh38: Chr2:71481924	DYSF	E64, E65	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Sep 29, 2019)	criteria provided, single submitter
Select item 98422988.	NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter) GRCh37: Chr2:71708039 GRCh38: Chr2:71480909	DYSF	K39, K40	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Mar 3, 2020)	criteria provided, single submitter
Select item 98412889.	NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) GRCh37: Chr2:71892356 GRCh38: Chr2:71665226	DYSF	Q1694, Q1695, Q1708, Q1709, Q1715, Q1716, Q1725, Q1726, Q1729, Q1730, Q1739, Q1740, Q1746, Q1747	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Mar 8, 2019)	criteria provided, single submitter
Select item 98412790.	NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) GRCh37: Chr2:71891555 GRCh38: Chr2:71664425	DYSF	Q1668, Q1669, Q1682, Q1683, Q1689, Q1690, Q1699, Q1700, Q1703, Q1704, Q1713, Q1714, Q1720, Q1721	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B, not provided	Pathogenic/Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98412691.	NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter) GRCh37: Chr2:71887777 GRCh38: Chr2:71660647	DYSF	G1614, G1615, G1628, G1629, G1635, G1636, G1645, G1646, G1649, G1650, G1659, G1660, G1666, G1667	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Feb 9, 2020)	criteria provided, single submitter
Select item 98412592.	NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter) GRCh37: Chr2:71887758 GRCh38: Chr2:71660628	DYSF	C1607, C1608, C1621, C1622, C1628, C1629, C1638, C1639, C1642, C1643, C1652, C1653, C1659, C1660	Qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic/Likely pathogenic (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98412493.	NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter) GRCh37: Chr2:71886140 GRCh38: Chr2:71659010	DYSF	Q1577, Q1578, Q1591, Q1592, Q1598, Q1599, Q1608, Q1609, Q1612, Q1613, Q1622, Q1623, Q1629, Q1630	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Jan 28, 2019)	criteria provided, single submitter
Select item 98412394.	NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) GRCh37: Chr2:71840490 GRCh38: Chr2:71613360	DYSF	E1440, E1441, E1454, E1455, E1471, E1472, E1485, E1486	Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic/Likely pathogenic (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98412295.	NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) GRCh37: Chr2:71827970 GRCh38: Chr2:71600840	DYSF	K1267, K1268, K1281, K1282, K1298, K1299, K1312, K1313	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Dec 15, 2019)	criteria provided, single submitter
Select item 98412196.	NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter) GRCh37: Chr2:71825798 GRCh38: Chr2:71598668	DYSF	E1195, E1196, E1209, E1210, E1226, E1227, E1240, E1241	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Dec 25, 2019)	criteria provided, single submitter
Select item 98396497.	NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) GRCh37: Chr2:71825791 GRCh38: Chr2:71598661	DYSF	Y1192, Y1193, Y1206, Y1207, Y1223, Y1224, Y1237, Y1238	not provided, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic/Likely pathogenic (Jul 25, 2019)	criteria provided, multiple submitters, no conflicts
Select item 98396398.	NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter) GRCh37: Chr2:71825770 GRCh38: Chr2:71598640	DYSF	W1185, W1186, W1199, W1200, W1216, W1217, W1230, W1231	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Feb 19, 2020)	criteria provided, single submitter
Select item 98396299.	NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) GRCh37: Chr2:71817403 GRCh38: Chr2:71590273	DYSF	K1155, K1156, K1169, K1170, K1186, K1187, K1200, K1201	Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Oct 18, 2019)	criteria provided, single submitter
Select item 983961100.	NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) GRCh37: Chr2:71801352 GRCh38: Chr2:71574222	DYSF	E1053, E1054, E1067, E1068, E1084, E1085, E1098, E1099	Qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts

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