ClinVar for MedGen (Select 419874) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24411071.	NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys) GRCh37: Chr2:71894601 GRCh38: Chr2:71667471	DYSF	E1752K, E1753K, E1766K, E1767K, E1773K, E1774K, E1783K, E1784K, E1787K, E1788K, E1797K, E1798K, E1804K, E1805K	not provided, Qualitative or quantitative defects of dysferlin	Conflicting interpretations of pathogenicity (Mar 13, 2023)	criteria provided, conflicting interpretations
Select item 24246992.	NC_000002.11:g.(?_71900503)_(71913622_?)del GRCh37: Chr2:71900503-71913622	DYSF		Qualitative or quantitative defects of dysferlin	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 24246983.	NC_000002.11:g.(?_71707993)_(71709120_?)del GRCh37: Chr2:71707993-71709120	DYSF		Qualitative or quantitative defects of dysferlin	Pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 24246974.	NC_000002.11:g.(?_71793585)_(71797846_?)del GRCh37: Chr2:71793585-71797846	DYSF		Qualitative or quantitative defects of dysferlin	Pathogenic (Jan 28, 2019)	criteria provided, single submitter
Select item 24246965.	NC_000002.11:g.(?_71693963)_(71744179_?)dup GRCh37: Chr2:71693963-71744179	DYSF		Qualitative or quantitative defects of dysferlin	Likely pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 24246956.	NC_000002.11:g.(?_71755408)_(71755551_?)dup GRCh37: Chr2:71755408-71755551	DYSF		Qualitative or quantitative defects of dysferlin	Likely pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 24246947.	NC_000002.11:g.(?_71681129)_(71913622_?)dup GRCh37: Chr2:71681129-71913622	DYSF		Qualitative or quantitative defects of dysferlin	Uncertain significance (Apr 15, 2021)	criteria provided, single submitter
Select item 24246938.	NC_000002.11:g.(?_71838365)_(71840553_?)del GRCh37: Chr2:71838365-71840553	DYSF		Qualitative or quantitative defects of dysferlin	Pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 24246929.	NC_000002.11:g.(?_71730324)_(71730469_?)del GRCh37: Chr2:71730324-71730469	DYSF		Qualitative or quantitative defects of dysferlin	Pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 242469110.	NC_000002.11:g.(?_71827822)_(71827982_?)del GRCh37: Chr2:71827822-71827982	DYSF		Qualitative or quantitative defects of dysferlin	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 242469011.	NC_000002.11:g.(?_71801318)_(71801511_?)del GRCh37: Chr2:71801318-71801511	DYSF		Qualitative or quantitative defects of dysferlin	Pathogenic (Sep 18, 2022)	criteria provided, single submitter
Select item 242468912.	NC_000002.11:g.(?_71681119)_(71694073_?)del GRCh37: Chr2:71681119-71694073	DYSF		Qualitative or quantitative defects of dysferlin	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 242193713.	NM_001130987.2(DYSF):c.593C>G (p.Thr198Ser) GRCh37: Chr2:71740885 GRCh38: Chr2:71513755	DYSF	T166S, T167S, T197S, T198S	Qualitative or quantitative defects of dysferlin	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 242116814.	NM_001130987.2(DYSF):c.2898C>T (p.Ser966=) GRCh37: Chr2:71796983 GRCh38: Chr2:71569853	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 242089115.	NM_001130987.2(DYSF):c.951+20G>A GRCh37: Chr2:71743392 GRCh38: Chr2:71516262	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 242019816.	NM_001130987.2(DYSF):c.1102T>C (p.Tyr368His) GRCh37: Chr2:71747987 GRCh38: Chr2:71520857	DYSF	Y336H, Y337H, Y367H, Y368H	Qualitative or quantitative defects of dysferlin	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 242011417.	NM_001130987.2(DYSF):c.691G>A (p.Gly231Arg) GRCh37: Chr2:71740983 GRCh38: Chr2:71513853	DYSF	G199R, G200R, G230R, G231R	Qualitative or quantitative defects of dysferlin	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 241982818.	NM_001130987.2(DYSF):c.4382_4383delinsTT (p.Gly1461Val) GRCh37: Chr2:71839931-71839932 GRCh38: Chr2:71612801-71612802	DYSF	G1429V, G1430V, G1443V, G1444V, G1460V, G1461V, G1474V, G1475V	Qualitative or quantitative defects of dysferlin	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 241982719.	NM_001130987.2(DYSF):c.4203C>T (p.Cys1401=) GRCh37: Chr2:71838738 GRCh38: Chr2:71611608	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 241913420.	NM_001130987.2(DYSF):c.3642C>T (p.Asn1214=) GRCh37: Chr2:71825761 GRCh38: Chr2:71598631	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 241833321.	NM_001130987.2(DYSF):c.4911G>C (p.Lys1637Asn) GRCh37: Chr2:71886163 GRCh38: Chr2:71659033	DYSF	K1584N, K1585N, K1598N, K1599N, K1605N, K1606N, K1615N, K1616N, K1619N, K1620N, K1629N, K1630N, K1636N, K1637N	Qualitative or quantitative defects of dysferlin	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 241726622.	NM_001130987.2(DYSF):c.423G>A (p.Glu141=) GRCh37: Chr2:71739014 GRCh38: Chr2:71511884	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 241658423.	NM_001130987.2(DYSF):c.1806+9T>A GRCh37: Chr2:71778859 GRCh38: Chr2:71551729	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 241644424.	NM_001130987.2(DYSF):c.4884C>T (p.Gly1628=) GRCh37: Chr2:71886136 GRCh38: Chr2:71659006	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 241610425.	NM_001130987.2(DYSF):c.4284G>A (p.Gln1428=) GRCh37: Chr2:71839833 GRCh38: Chr2:71612703	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Feb 13, 2022)	criteria provided, single submitter
Select item 241596626.	NM_001130987.2(DYSF):c.1650C>T (p.Phe550=) GRCh37: Chr2:71778244 GRCh38: Chr2:71551114	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 241593427.	NM_001130987.2(DYSF):c.3561G>A (p.Lys1187=) GRCh37: Chr2:71817405 GRCh38: Chr2:71590275	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 241592028.	NM_001130987.2(DYSF):c.3575-1G>C GRCh37: Chr2:71825693 GRCh38: Chr2:71598563	DYSF		Qualitative or quantitative defects of dysferlin	Pathogenic (May 7, 2022)	criteria provided, single submitter
Select item 241546629.	NM_001130987.2(DYSF):c.1985-7A>G GRCh37: Chr2:71780930 GRCh38: Chr2:71553800	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 241545930.	NM_001130987.2(DYSF):c.4222-11C>T GRCh37: Chr2:71839760 GRCh38: Chr2:71612630	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 241381831.	NM_001130987.2(DYSF):c.2979+8A>C GRCh37: Chr2:71797072 GRCh38: Chr2:71569942	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 220359832.	NM_001130987.2(DYSF):c.4377G>C (p.Gln1459His) GRCh37: Chr2:71839926 GRCh38: Chr2:71612796	DYSF	Q1442H, Q1428H, Q1459H, Q1472H, Q1441H, Q1458H, Q1427H, Q1473H	Qualitative or quantitative defects of dysferlin	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 220309433.	NM_001130987.2(DYSF):c.5921CAGCCAAGA[1] (p.Thr1977_Lys1979del) GRCh37: Chr2:71906223-71906231 GRCh38: Chr2:71679093-71679101	DYSF		Qualitative or quantitative defects of dysferlin	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 220309334.	NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly) GRCh37: Chr2:71838613 GRCh38: Chr2:71611483	DYSF	R1329G, R1373G, R1374G, R1342G, R1343G, R1359G, R1328G, R1360G	Qualitative or quantitative defects of dysferlin	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 220308935.	NM_001130987.2(DYSF):c.2131del (p.His711fs) GRCh37: Chr2:71783115 GRCh38: Chr2:71555985	DYSF	H694fs, H710fs, H679fs, H693fs, H711fs, H680fs, H724fs, H725fs	Qualitative or quantitative defects of dysferlin	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 220308736.	NM_001130987.2(DYSF):c.1261G>T (p.Glu421Ter) GRCh37: Chr2:71753461 GRCh38: Chr2:71526331	DYSF	E390, E420, E389, E421	Qualitative or quantitative defects of dysferlin	Pathogenic (Jun 11, 2022)	criteria provided, single submitter
Select item 220308537.	NM_001130987.2(DYSF):c.578_579del (p.Glu193fs) GRCh37: Chr2:71740868-71740869 GRCh38: Chr2:71513738-71513739	DYSF	E161fs, E192fs, E193fs, E162fs	Qualitative or quantitative defects of dysferlin	Pathogenic (May 23, 2022)	criteria provided, single submitter
Select item 220308438.	NM_001130987.2(DYSF):c.359T>C (p.Leu120Pro) GRCh37: Chr2:71738950 GRCh38: Chr2:71511820	DYSF	L120P, L119P	Qualitative or quantitative defects of dysferlin	Pathogenic (Feb 15, 2022)	criteria provided, single submitter
Select item 220308339.	NM_001130987.2(DYSF):c.345+1G>A GRCh37: Chr2:71730450 GRCh38: Chr2:71503320	DYSF		Qualitative or quantitative defects of dysferlin	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 220226140.	NM_001130987.2(DYSF):c.5457+14C>T GRCh37: Chr2:71894659 GRCh38: Chr2:71667529	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 220208141.	NM_001130987.2(DYSF):c.2435T>A (p.Val812Asp) GRCh37: Chr2:71791213 GRCh38: Chr2:71564083	DYSF	V780D, V812D, V825D, V781D, V811D, V826D, V794D, V795D	Qualitative or quantitative defects of dysferlin, not provided	Uncertain significance (Aug 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 220169742.	NM_001130987.2(DYSF):c.4571T>C (p.Ile1524Thr) GRCh37: Chr2:71871138 GRCh38: Chr2:71644008	DYSF	I1486T, I1507T, I1523T, I1524T, I1471T, I1472T, I1492T, I1493T, I1516T, I1517T, I1502T, I1506T, I1485T, I1503T	Qualitative or quantitative defects of dysferlin	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 220150043.	NM_001130987.2(DYSF):c.5926A>G (p.Lys1976Glu) GRCh37: Chr2:71906228 GRCh38: Chr2:71679098	DYSF	K1923E, K1944E, K1954E, K1959E, K1938E, K1955E, K1958E, K1968E, K1976E, K1945E, K1975E, K1924E, K1937E, K1969E	Qualitative or quantitative defects of dysferlin	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 220096544.	NM_001130987.2(DYSF):c.4039C>T (p.Leu1347Phe) GRCh37: Chr2:71838456 GRCh38: Chr2:71611326	DYSF	L1330F, L1347F, L1315F, L1316F, L1329F, L1360F, L1346F, L1361F	Qualitative or quantitative defects of dysferlin	Benign (Jun 26, 2022)	criteria provided, single submitter
Select item 219955945.	NM_001130987.2(DYSF):c.6105G>A (p.Glu2035=) GRCh37: Chr2:71908172 GRCh38: Chr2:71681042	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 219952146.	NM_001130987.2(DYSF):c.5909G>A (p.Arg1970His) GRCh37: Chr2:71906211 GRCh38: Chr2:71679081	DYSF	R1931H, R1939H, R1953H, R1970H, R1952H, R1969H, R1917H, R1938H, R1949H, R1918H, R1932H, R1948H, R1962H, R1963H	Qualitative or quantitative defects of dysferlin	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 219949847.	NM_001130987.2(DYSF):c.3934G>A (p.Glu1312Lys) GRCh37: Chr2:71829912 GRCh38: Chr2:71602782	DYSF, LOC122787137	E1294K, E1295K, E1311K, E1325K, E1312K, E1326K, E1280K, E1281K	Qualitative or quantitative defects of dysferlin	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 219920548.	NM_003494.4(DYSF):c.25G>A (p.Ala9Thr) GRCh37: Chr2:71681153 GRCh38: Chr2:71454023	DYSF	A9T	Qualitative or quantitative defects of dysferlin	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 219905449.	NM_001130987.2(DYSF):c.2865-20T>C GRCh37: Chr2:71796930 GRCh38: Chr2:71569800	DYSF		Qualitative or quantitative defects of dysferlin	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 219886850.	NM_001130987.2(DYSF):c.3086-18C>A GRCh37: Chr2:71797711 GRCh38: Chr2:71570581	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 219841251.	NM_001130987.2(DYSF):c.3402+14C>T GRCh37: Chr2:71801515 GRCh38: Chr2:71574385	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 219782452.	NM_001130987.2(DYSF):c.1577-1640T>C GRCh37: Chr2:71776531 GRCh38: Chr2:71549401	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 219775853.	NM_001130987.2(DYSF):c.3957+15G>A GRCh37: Chr2:71829950 GRCh38: Chr2:71602820	LOC122787137, DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 219706354.	NM_001130987.2(DYSF):c.5651T>C (p.Ile1884Thr) GRCh37: Chr2:71896743 GRCh38: Chr2:71669613	DYSF	I1845T, I1846T, I1853T, I1862T, I1852T, I1876T, I1884T, I1831T, I1832T, I1863T, I1866T, I1867T, I1877T, I1883T	Inborn genetic diseases, Qualitative or quantitative defects of dysferlin	Uncertain significance (Dec 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 219662455.	NM_001130987.2(DYSF):c.5784+14C>T GRCh37: Chr2:71896890 GRCh38: Chr2:71669760	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 219662356.	NM_001130987.2(DYSF):c.6213C>T (p.Tyr2071=) GRCh37: Chr2:71909699 GRCh38: Chr2:71682569	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 219626057.	NM_001130987.2(DYSF):c.4528-7C>T GRCh37: Chr2:71871088 GRCh38: Chr2:71643958	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 219624458.	NM_001130987.2(DYSF):c.561A>T (p.Gly187=) GRCh37: Chr2:71740853 GRCh38: Chr2:71513723	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 219612559.	NM_001130987.2(DYSF):c.5572A>T (p.Asn1858Tyr) GRCh37: Chr2:71896267 GRCh38: Chr2:71669137	DYSF	N1806Y, N1820Y, N1836Y, N1851Y, N1857Y, N1805Y, N1826Y, N1858Y, N1819Y, N1840Y, N1850Y, N1827Y, N1837Y, N1841Y	Qualitative or quantitative defects of dysferlin	Uncertain significance (Sep 15, 2020)	criteria provided, single submitter
Select item 219602660.	NM_001130987.2(DYSF):c.4401A>C (p.Leu1467=) GRCh37: Chr2:71840477 GRCh38: Chr2:71613347	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 219579761.	NM_001130987.2(DYSF):c.3589G>A (p.Val1197Ile) GRCh37: Chr2:71825708 GRCh38: Chr2:71598578	DYSF	V1180I, V1197I, V1196I, V1165I, V1166I, V1179I, V1211I, V1210I	Qualitative or quantitative defects of dysferlin, not provided	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219563362.	NM_001130987.2(DYSF):c.1204C>T (p.Arg402Trp) GRCh37: Chr2:71753404 GRCh38: Chr2:71526274	DYSF	R370W, R402W, R371W, R401W	Qualitative or quantitative defects of dysferlin	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 219560063.	NM_001130987.2(DYSF):c.4185C>T (p.Asn1395=) GRCh37: Chr2:71838720 GRCh38: Chr2:71611590	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 219456464.	NM_001130987.2(DYSF):c.3115dup (p.Glu1039fs) GRCh37: Chr2:71797756-71797757 GRCh38: Chr2:71570626-71570627	DYSF	E1007fs, E1008fs, E1038fs, E1039fs, E1052fs, E1022fs, E1021fs, E1053fs	Qualitative or quantitative defects of dysferlin	Pathogenic (Jun 4, 2022)	criteria provided, single submitter
Select item 219452165.	NM_001130987.2(DYSF):c.2216+11C>A GRCh37: Chr2:71783212 GRCh38: Chr2:71556082	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 219416066.	NM_001130987.2(DYSF):c.4025A>C (p.Asn1342Thr) GRCh37: Chr2:71838442 GRCh38: Chr2:71611312	DYSF	N1311T, N1324T, N1356T, N1310T, N1325T, N1342T, N1355T, N1341T	Qualitative or quantitative defects of dysferlin	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 219404367.	NM_001130987.2(DYSF):c.1999T>C (p.Tyr667His) GRCh37: Chr2:71780951 GRCh38: Chr2:71553821	DYSF	Y635H, Y636H, Y649H, Y667H, Y681H, Y650H, Y666H, Y680H	Qualitative or quantitative defects of dysferlin	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 219238168.	NM_001130987.2(DYSF):c.1002+8C>T GRCh37: Chr2:71744177 GRCh38: Chr2:71517047	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 219194769.	NM_001130987.2(DYSF):c.4059+12G>A GRCh37: Chr2:71838488 GRCh38: Chr2:71611358	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 219181770.	NM_001130987.2(DYSF):c.1450-14T>C GRCh37: Chr2:71762384 GRCh38: Chr2:71535254	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 219174471.	NM_001130987.2(DYSF):c.1379T>C (p.Met460Thr) GRCh37: Chr2:71755530 GRCh38: Chr2:71528400	DYSF	M429T, M459T, M460T, M428T	Qualitative or quantitative defects of dysferlin	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 219135572.	NM_001130987.2(DYSF):c.1544C>G (p.Ser515Trp) GRCh37: Chr2:71766337 GRCh38: Chr2:71539207	DYSF	S483W, S484W, S515W, S514W	Qualitative or quantitative defects of dysferlin	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 218979773.	NM_001130987.2(DYSF):c.1832C>T (p.Ser611Phe) GRCh37: Chr2:71780166 GRCh38: Chr2:71553036	DYSF	S610F, S611F, S580F, S594F, S625F, S593F, S624F, S579F	Qualitative or quantitative defects of dysferlin	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 218890174.	NM_001130987.2(DYSF):c.2865-11dup GRCh37: Chr2:71796936-71796937 GRCh38: Chr2:71569806-71569807	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 218868175.	NM_001130987.2(DYSF):c.1002+14T>C GRCh37: Chr2:71744183 GRCh38: Chr2:71517053	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 218803176.	NM_001130987.2(DYSF):c.4636A>G (p.Thr1546Ala) GRCh37: Chr2:71883301 GRCh38: Chr2:71656171	DYSF	T1514A, T1539A, T1507A, T1524A, T1538A, T1545A, T1508A, T1546A, T1493A, T1494A, T1515A, T1525A, T1528A, T1529A	Qualitative or quantitative defects of dysferlin	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 218594877.	NM_001130987.2(DYSF):c.3497-5T>C GRCh37: Chr2:71817336 GRCh38: Chr2:71590206	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 218578478.	NM_001130987.2(DYSF):c.1731C>A (p.Ser577=) GRCh37: Chr2:71778775 GRCh38: Chr2:71551645	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 218522779.	NM_001130987.2(DYSF):c.1111A>G (p.Thr371Ala) GRCh37: Chr2:71747996 GRCh38: Chr2:71520866	DYSF	T340A, T370A, T339A, T371A	Qualitative or quantitative defects of dysferlin	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 218505680.	NM_001130987.2(DYSF):c.6322-14C>T GRCh37: Chr2:71913570 GRCh38: Chr2:71686440	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 218505281.	NM_001130987.2(DYSF):c.3085+18C>A GRCh37: Chr2:71797482 GRCh38: Chr2:71570352	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 218423282.	NM_001130987.2(DYSF):c.5643-10G>T GRCh37: Chr2:71896725 GRCh38: Chr2:71669595	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 218394283.	NM_001130987.2(DYSF):c.148-20C>T GRCh37: Chr2:71708989 GRCh38: Chr2:71481859	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 218257684.	NM_001130987.2(DYSF):c.3258C>T (p.Gly1086=) GRCh37: Chr2:71801357 GRCh38: Chr2:71574227	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 218238085.	NM_001130987.2(DYSF):c.3108C>G (p.Ile1036Met) GRCh37: Chr2:71797751 GRCh38: Chr2:71570621	DYSF	I1005M, I1004M, I1019M, I1035M, I1050M, I1018M, I1049M, I1036M	Qualitative or quantitative defects of dysferlin	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 218189386.	NM_001130987.2(DYSF):c.587G>A (p.Gly196Glu) GRCh37: Chr2:71740879 GRCh38: Chr2:71513749	DYSF	G165E, G195E, G196E, G164E	Qualitative or quantitative defects of dysferlin	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 218028487.	NM_001130987.2(DYSF):c.4619C>T (p.Thr1540Ile) GRCh37: Chr2:71871186 GRCh38: Chr2:71644056	DYSF	T1502I, T1539I, T1508I, T1519I, T1523I, T1533I, T1540I, T1488I, T1501I, T1509I, T1522I, T1532I, T1487I, T1518I	Qualitative or quantitative defects of dysferlin	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 217991688.	NM_001130987.2(DYSF):c.1782T>G (p.Pro594=) GRCh37: Chr2:71778826 GRCh38: Chr2:71551696	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 217985789.	NM_001130987.2(DYSF):c.1449+7C>A GRCh37: Chr2:71762226 GRCh38: Chr2:71535096	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 217698390.	NM_001130987.2(DYSF):c.240-10C>T GRCh37: Chr2:71730334 GRCh38: Chr2:71503204	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 217660991.	NM_001130987.2(DYSF):c.4788C>G (p.Asp1596Glu) GRCh37: Chr2:71886040 GRCh38: Chr2:71658910	DYSF	D1543E, D1564E, D1589E, D1544E, D1565E, D1575E, D1578E, D1595E, D1596E, D1557E, D1558E, D1574E, D1588E, D1579E	Qualitative or quantitative defects of dysferlin	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 217587092.	NM_001130987.2(DYSF):c.4399C>T (p.Leu1467=) GRCh37: Chr2:71840475 GRCh38: Chr2:71613345	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 217502993.	NM_001130987.2(DYSF):c.4528-2del GRCh37: Chr2:71871093 GRCh38: Chr2:71643963	DYSF		Qualitative or quantitative defects of dysferlin	Likely pathogenic (Jul 10, 2022)	criteria provided, single submitter
Select item 217501794.	NM_001130987.2(DYSF):c.344G>T (p.Gly115Val) GRCh37: Chr2:71730448 GRCh38: Chr2:71503318	DYSF	G115V, G114V	Qualitative or quantitative defects of dysferlin	Uncertain significance (Mar 31, 2021)	criteria provided, single submitter
Select item 217432095.	NM_001130987.2(DYSF):c.5004-9C>T GRCh37: Chr2:71891389 GRCh38: Chr2:71664259	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 217410996.	NM_001130987.2(DYSF):c.2237A>G (p.His746Arg) GRCh37: Chr2:71788902 GRCh38: Chr2:71561772	DYSF	H714R, H729R, H760R, H715R, H745R, H728R, H746R, H759R	Qualitative or quantitative defects of dysferlin	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 217238497.	NM_001130987.2(DYSF):c.229G>A (p.Gly77Arg) GRCh37: Chr2:71709090 GRCh38: Chr2:71481960	DYSF	G76R, G77R	Qualitative or quantitative defects of dysferlin	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 217164798.	NM_001130987.2(DYSF):c.1491del (p.Trp498fs) GRCh37: Chr2:71762439 GRCh38: Chr2:71535309	DYSF	W467fs, W498fs, W466fs, W497fs	Qualitative or quantitative defects of dysferlin	Pathogenic (Jan 14, 2022)	criteria provided, single submitter
Select item 217118499.	NM_001130987.2(DYSF):c.4703G>A (p.Arg1568Gln) GRCh37: Chr2:71883368 GRCh38: Chr2:71656238	DYSF	R1529Q, R1551Q, R1560Q, R1516Q, R1546Q, R1536Q, R1537Q, R1547Q, R1550Q, R1568Q, R1515Q, R1530Q, R1561Q, R1567Q	Qualitative or quantitative defects of dysferlin	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 2171166100.	NM_001130987.2(DYSF):c.2865-4A>G GRCh37: Chr2:71796946 GRCh38: Chr2:71569816	DYSF		Qualitative or quantitative defects of dysferlin	Likely benign (Jun 2, 2022)	criteria provided, single submitter

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