ClinVar for MedGen (Select 338149) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792241.	GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0 GRCh38: Chr2:71503117-71517137	DYSF, LOC122787136		Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25792232.	GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0 GRCh38: Chr2:71643868-71644161	DYSF		Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain significance (Aug 24, 2023)	criteria provided, single submitter
Select item 25706013.	NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro) GRCh37: Chr2:71892312 GRCh38: Chr2:71665182	DYSF	R1715P, R1680P, R1694P, R1700P, R1725P, R1679P, R1693P, R1724P, R1732P, R1701P, R1710P, R1714P, R1711P, R1731P	Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Jul 7, 2023)	criteria provided, single submitter
Select item 25063894.	NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro) GRCh37: Chr2:71906295 GRCh38: Chr2:71679165	DYSF	L1945P, L1946P, L1959P, L1960P, L1966P, L1967P, L1976P, L1977P, L1980P, L1981P, L1990P, L1991P, L1997P, L1998P	Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic	criteria provided, single submitter
Select item 25008235.	NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs) GRCh37: Chr2:71816752-71816753 GRCh38: Chr2:71589622-71589623	DYSF	M1114fs, M1115fs, M1128fs, M1129fs, M1145fs, M1146fs, M1159fs, M1160fs	Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic	criteria provided, single submitter
Select item 18056746.	NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe) GRCh37: Chr2:71909748 GRCh38: Chr2:71682618	DYSF	L2035F, L2036F, L2049F, L2050F, L2056F, L2057F, L2066F, L2067F, L2070F, L2071F, L2080F, L2081F, L2087F, L2088F	Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18022507.	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 17269958.	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 17269649.	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 172690810.	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 172683211.	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 172673312.	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 172669213.	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 172663414.	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 172661015.	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 172658616.	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 172644717.	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 172643618.	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 172637219.	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 172628220.	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 172619221.	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 172618722.	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 172617423.	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 172611424.	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 172588925.	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 172572326.	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 172553627.	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 172548728.	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 172538029.	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 172537630.	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 172536931.	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 172535332.	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 172520333.	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 172515734.	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 172513635.	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 172501536.	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 172500737.	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 172499338.	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 172497739.	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 172493040.	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 172489341.	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 172481742.	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 172479943.	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 172479144.	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 172478545.	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 172474246.	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 172449947.	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 172443048.	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 172436049.	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 172431650.	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 172414651.	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 172407152.	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 172406853.	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 172405354.	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 172401855.	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 172400656.	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 172399057.	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 172397458.	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 172395959.	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 172395160.	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 170972961.	NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser) GRCh37: Chr2:71795431 GRCh38: Chr2:71568301	DYSF	T911S, T912S, T925S, T926S, T942S, T943S, T956S, T957S	Autosomal recessive limb-girdle muscular dystrophy type 2B, Qualitative or quantitative defects of dysferlin, not provided	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170964462.	NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs) GRCh37: Chr2:71896814-71896815 GRCh38: Chr2:71669684-71669685	DYSF	R1856fs, R1857fs, R1870fs, R1871fs, R1877fs, R1878fs, R1887fs, R1888fs, R1891fs, R1892fs, R1901fs, R1902fs, R1908fs, R1909fs	Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 170948063.	NM_001130987.2(DYSF):c.5643-15A>G GRCh37: Chr2:71896720 GRCh38: Chr2:71669590	DYSF		Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 170855464.	NM_001130987.2(DYSF):c.5912T>A (p.Met1971Lys) GRCh37: Chr2:71906214 GRCh38: Chr2:71679084	DYSF	M1918K, M1919K, M1932K, M1933K, M1939K, M1940K, M1949K, M1950K, M1953K, M1954K, M1963K, M1964K, M1970K, M1971K	Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain significance	no assertion criteria provided
Select item 170855365.	NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter) GRCh37: Chr2:71742762 GRCh38: Chr2:71515632	DYSF	Q225, Q226, Q256, Q257	Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic	no assertion criteria provided
Select item 170855266.	NM_001130987.2(DYSF):c.5375A>G (p.His1792Arg) GRCh37: Chr2:71894563 GRCh38: Chr2:71667433	DYSF	H1739R, H1740R, H1753R, H1754R, H1760R, H1761R, H1770R, H1771R, H1774R, H1775R, H1784R, H1785R, H1791R, H1792R	Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain significance	no assertion criteria provided
Select item 170855167.	NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter) GRCh37: Chr2:71791250 GRCh38: Chr2:71564120	DYSF	Y792, Y793, Y806, Y807, Y823, Y824, Y837, Y838	Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic	no assertion criteria provided
Select item 170855068.	NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter) GRCh37: Chr2:71906245 GRCh38: Chr2:71679115	DYSF	C1928, C1929, C1942, C1943, C1949, C1950, C1959, C1960, C1963, C1964, C1973, C1974, C1980, C1981	Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic	no assertion criteria provided
Select item 170854969.	NM_001130987.2(DYSF):c.3340C>A (p.Arg1114Ser) GRCh37: Chr2:71801439 GRCh38: Chr2:71574309	DYSF	R1082S, R1083S, R1096S, R1097S, R1113S, R1114S, R1127S, R1128S	Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain significance	no assertion criteria provided
Select item 170854870.	NM_001130987.2(DYSF):c.5096_5115delinsA (p.Gly1699fs) GRCh37: Chr2:71891490-71891509 GRCh38: Chr2:71664360-71664379	DYSF	G1646fs, G1647fs, G1660fs, G1661fs, G1667fs, G1668fs, G1677fs, G1678fs, G1681fs, G1682fs, G1691fs, G1692fs, G1698fs, G1699fs	Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic	no assertion criteria provided
Select item 170854771.	NM_001130987.2(DYSF):c.3702del (p.Val1235fs) GRCh37: Chr2:71825821 GRCh38: Chr2:71598691	DYSF	V1203fs, V1204fs, V1217fs, V1218fs, V1234fs, V1235fs, V1248fs, V1249fs	Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic	no assertion criteria provided
Select item 170854672.	NM_001130987.2(DYSF):c.3080A>G (p.Glu1027Gly) GRCh37: Chr2:71797459 GRCh38: Chr2:71570329	DYSF	E1009G, E1010G, E1026G, E1027G, E1040G, E1041G, E995G, E996G	Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain significance	no assertion criteria provided
Select item 169887173.	NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro) GRCh37: Chr2:71748012 GRCh38: Chr2:71520882	DYSF	L344P, L345P, L375P, L376P	Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 169732274.	NM_001130987.2(DYSF):c.5621del (p.Met1874fs) GRCh37: Chr2:71896316 GRCh38: Chr2:71669186	DYSF	M1821fs, M1822fs, M1835fs, M1836fs, M1842fs, M1843fs, M1852fs, M1853fs, M1856fs, M1857fs, M1866fs, M1867fs, M1873fs, M1874fs	Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic	criteria provided, single submitter
Select item 167855475.	NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln) GRCh37: Chr2:71740999 GRCh38: Chr2:71513869	DYSF	R204Q, R205Q, R235Q, R236Q	Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151596076.	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 151074077.	NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln) GRCh37: Chr2:71797015 GRCh38: Chr2:71569885	DYSF	R945Q, R991Q, R946Q, R959Q, R960Q, R976Q, R977Q, R990Q	Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B	Likely pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147593478.	NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser) GRCh37: Chr2:71816726 GRCh38: Chr2:71589596	DYSF	G1119S, G1135S, G1149S, G1150S, G1104S, G1118S, G1105S, G1136S	Qualitative or quantitative defects of dysferlin, not provided	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143744279.	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 130018580.	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 125611381.	NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala) GRCh37: Chr2:71909694 GRCh38: Chr2:71682564	DYSF	P2017A, P2018A, P2031A, P2032A, P2038A, P2039A, P2048A, P2049A, P2052A, P2053A, P2062A, P2063A, P2069A, P2070A	not provided	Uncertain significance (Nov 24, 2020)	criteria provided, single submitter
Select item 120159882.	NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu) GRCh37: Chr2:71738968 GRCh38: Chr2:71511838	DYSF	P125L, P126L	Qualitative or quantitative defects of dysferlin, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 119936083.	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 119935984.	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 119934185.	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 119934086.	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 119930387.	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 119930288.	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 119926589.	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 118448390.	NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu) GRCh37: Chr2:71896810 GRCh38: Chr2:71669680	DYSF	F1853L, F1854L, F1867L, F1868L, F1874L, F1875L, F1884L, F1885L, F1888L, F1889L, F1898L, F1899L, F1905L, F1906L	Qualitative or quantitative defects of dysferlin	Pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 118066791.	NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro) GRCh37: Chr2:71825856 GRCh38: Chr2:71598726	DYSF	L1214P, L1215P, L1228P, L1229P, L1245P, L1246P, L1259P, L1260P	Autosomal recessive limb-girdle muscular dystrophy type 2B, Abnormality of the musculature, Qualitative or quantitative defects of dysferlin	Conflicting interpretations of pathogenicity (Sep 6, 2021)	criteria provided, conflicting interpretations
Select item 115899192.	NM_001130987.2(DYSF):c.693G>A (p.Gly231=) GRCh37: Chr2:71740985 GRCh38: Chr2:71513855	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 115692493.	NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=) GRCh37: Chr2:71891446 GRCh38: Chr2:71664316	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 115660094.	NM_001130987.2(DYSF):c.6255C>T (p.Ala2085=) GRCh37: Chr2:71909741 GRCh38: Chr2:71682611	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 110102195.	NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=) GRCh37: Chr2:71838422 GRCh38: Chr2:71611292	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 109734496.	NM_001130987.2(DYSF):c.315C>T (p.Pro105=) GRCh37: Chr2:71730419 GRCh38: Chr2:71503289	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Nov 8, 2021)	criteria provided, single submitter
Select item 109730697.	NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=) GRCh37: Chr2:71909780 GRCh38: Chr2:71682650	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 109501098.	NM_001130987.2(DYSF):c.960C>T (p.Asp320=) GRCh37: Chr2:71744127 GRCh38: Chr2:71516997	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 106194799.	NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys) GRCh37: Chr2:71797042 GRCh38: Chr2:71569912	DYSF	M1000K, M954K, M955K, M968K, M969K, M985K, M986K, M999K	Qualitative or quantitative defects of dysferlin	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 1061849100.	NM_001130987.2(DYSF):c.2786T>A (p.Ile929Asn) GRCh37: Chr2:71795390 GRCh38: Chr2:71568260	DYSF	I897N, I898N, I911N, I912N, I928N, I929N, I942N, I943N	Qualitative or quantitative defects of dysferlin	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter

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