"Baylor Genetics"[submitter] AND "DYSF"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1075046	NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter)	DYSF (Y8*)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic/Likely pathogenic
Select item 2674985	NM_003494.4(DYSF):c.42_43del (p.Pro15fs)	DYSF (P15fs)	Microsatellite (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2675006	NM_003494.4(DYSF):c.88+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 1034005	NM_001130987.2(DYSF):c.55C>T (p.Arg19Trp)	DYSF (R19W)	Single nucleotide variant (missense variant +1 more)	Miyoshi muscular dystrophy 1	GUncertain significance
Select item 94263	NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)	DYSF (K36fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 2100759	NM_001130987.2(DYSF):c.128dup (p.Asn44fs)	DYSF (N44fs +1 more)	Duplication (frameshift variant)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic
Select item 2674994	NM_001130987.2(DYSF):c.148-2A>G	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GPathogenic
Select item 197217	NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)	DYSF (R89* +1 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic
Select item 265108	NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)	DYSF (Q111* +1 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 282316	NM_001130987.2(DYSF):c.342del (p.Ala116fs)	DYSF (A115fs +1 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +4 more	GPathogenic/Likely pathogenic
Select item 94308	NM_001130987.2(DYSF):c.356del (p.Val119fs)	DYSF (V119fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +5 more	GPathogenic
Select item 286226	NM_001130987.2(DYSF):c.410del (p.Pro137fs)	DYSF (P136fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1724799	NM_001130987.2(DYSF):c.431del (p.Pro144fs)	DYSF (P143fs +1 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1 +2 more	GLikely pathogenic
Select item 556201	NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)	DYSF (Q208* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more	GPathogenic
Select item 2674987	NM_001130987.2(DYSF):c.641del (p.Ala214fs)	DYSF (A182fs +3 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 94352	NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)	DYSF (R204* +3 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +3 more	GPathogenic
Select item 936135	NM_001130987.2(DYSF):c.754_759+5del	DYSF	Deletion (splice donor variant)	Qualitative or quantitative defects of dysferlin +2 more	GLikely pathogenic
Select item 94355	NM_001130987.2(DYSF):c.759+1G>C	DYSF	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 2674978	NM_001130987.2(DYSF):c.760-2A>G	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 198495	NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)	DYSF (G234E +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GPathogenic/Likely pathogenic
Select item 198494	NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)	DYSF (N236T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 94358	NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)	DYSF (T252M +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +5 more	GPathogenic/Likely pathogenic
Select item 284800	NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)	DYSF (R285W +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2674968	NM_001130987.2(DYSF):c.859del (p.His287fs)	DYSF (H255fs +3 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GPathogenic
Select item 198458	NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)	DYSF (E264* +3 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 290198	NM_001130987.2(DYSF):c.888+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Qualitative or quantitative defects of dysferlin +3 more	GPathogenic/Likely pathogenic
Select item 555171	NM_001130987.2(DYSF):c.892_893del (p.Leu298fs)	DYSF (L267fs +3 more)	Microsatellite (frameshift variant)	Miyoshi muscular dystrophy 1 +3 more	GPathogenic
Select item 1322807	NM_001130987.2(DYSF):c.923del (p.Glu308fs)	DYSF (E276fs +3 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic
Select item 3241385	NM_001130987.2(DYSF):c.947del (p.Ile316fs)	DYSF (I284fs +3 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 6684	NM_001130987.2(DYSF):c.951+1del	DYSF	Deletion (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GPathogenic
Select item 3241382	NM_001130987.2(DYSF):c.951+2T>C	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674961	NM_001130987.2(DYSF):c.959dup (p.Asp320fs)	DYSF (D288fs +3 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more	GPathogenic/Likely pathogenic
Select item 555770	NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)	DYSF (D288V +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 94366	NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro)	DYSF (S289P +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 6681	NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)	DYSF (G299R +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 2674964	NM_001130987.2(DYSF):c.997_1002+1delinsAAAA	DYSF	Indel (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 693997	NM_001130987.2(DYSF):c.1000del (p.Arg334fs)	DYSF (R334fs +3 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic
Select item 2674970	NM_001130987.2(DYSF):c.1002+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 864798	NM_001130987.2(DYSF):c.1002+4A>G	DYSF	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 3239662	NM_001130987.2(DYSF):c.1003-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 94367	NM_001130987.2(DYSF):c.1033+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 2674995	NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)	DYSF (W320* +3 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic
Select item 551237	NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)	DYSF (L322P +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 2674988	NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter)	DYSF (S324* +3 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 551891	NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)	DYSF (S372R +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 2695882	NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter)	DYSF (E350* +3 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic/Likely pathogenic
Select item 94262	NM_001130987.2(DYSF):c.1149+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic/Likely pathogenic
Select item 941808	NM_001130987.2(DYSF):c.1192del (p.Ser398fs)	DYSF (S398fs +3 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic/Likely pathogenic
Select item 265487	NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)	DYSF (R377* +3 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +5 more	GPathogenic/Likely pathogenic
Select item 1070532	NM_001130987.2(DYSF):c.1258del (p.Ala420fs)	DYSF (A388fs +3 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2675004	NM_001130987.2(DYSF):c.1264_1276+1dup	DYSF	Duplication (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674969	NM_001130987.2(DYSF):c.1261G>C (p.Glu421Gln)	DYSF (E389Q +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1	GPathogenic
Select item 869485	NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)	DYSF (E421K +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 282410	NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)	DYSF (D422N +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2675002	NM_001130987.2(DYSF):c.1272_1276+3dup	DYSF	Duplication (splice donor variant)	Miyoshi muscular dystrophy 1 +1 more	GLikely pathogenic
Select item 497131	NM_001130987.2(DYSF):c.1274_1276+4dup	DYSF	Duplication (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 289571	NM_001130987.2(DYSF):c.1276+5G>A	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GPathogenic/Likely pathogenic
Select item 554833	NM_001130987.2(DYSF):c.1277-2A>C	DYSF	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more	GPathogenic/Likely pathogenic
Select item 551669	NM_001130987.2(DYSF):c.1350del (p.Phe451fs)	DYSF (F420fs +3 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more	GPathogenic
Select item 94266	NM_001130987.2(DYSF):c.1380+2T>C	DYSF	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 194354	NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro)	DYSF (L448P +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 94269	NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)	DYSF (C456* +3 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +3 more	GPathogenic
Select item 550946	NM_001130987.2(DYSF):c.1471dup (p.Met491fs)	DYSF (M459fs +3 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more	GPathogenic
Select item 1516735	NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del)	DYSF (R491del +3 more)	Deletion (inframe_deletion)	Miyoshi muscular dystrophy 1 +1 more	GLikely pathogenic
Select item 94271	NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)	DYSF (D465fs +3 more)	Duplication (frameshift variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 3241380	NM_001130987.2(DYSF):c.1494-1G>C	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 554057	NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)	DYSF (S483* +3 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 552948	NM_001130987.2(DYSF):c.1576+1del	DYSF	Deletion (splice donor variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic/Likely pathogenic
Select item 94274	NM_003494.4(DYSF):c.1481-1G>A	DYSF	Single nucleotide variant (splice acceptor variant +1 more)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 290283	NM_001130987.2(DYSF):c.1577-1655C>G	DYSF (S506* +3 more)	Single nucleotide variant (nonsense +1 more)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic/Likely pathogenic
Select item 1504863	NM_003494.4(DYSF):c.1522+1G>A	DYSF	Single nucleotide variant (splice donor variant +1 more)	Qualitative or quantitative defects of dysferlin +1 more	GLikely pathogenic
Select item 2675005	NM_001130987.2(DYSF):c.1577-21_1586delinsGGCTT	DYSF	Indel (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674976	NM_001130987.2(DYSF):c.1595del (p.Phe532fs)	DYSF (F500fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674981	NM_001130987.2(DYSF):c.1686del (p.Gly563fs)	DYSF (G531fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2734214	NM_001130987.2(DYSF):c.1692+1G>C	DYSF	Single nucleotide variant (splice donor variant)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic
Select item 265488	NM_001130987.2(DYSF):c.1693-6T>A	DYSF	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic
Select item 94277	NM_003494.4(DYSF):c.1642del	DYSF	Deletion (splice acceptor variant)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic
Select item 3241375	NM_001130987.2(DYSF):c.1709_1722del (p.Tyr570fs)	DYSF (Y538fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GPathogenic
Select item 94278	NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)	DYSF (R555W +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2674977	NM_001130987.2(DYSF):c.1806+1G>T	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674967	NM_001130987.2(DYSF):c.1807-2A>G	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 217223	NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)	DYSF (Q612* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
Select item 3241377	NM_001130987.2(DYSF):c.1902C>A (p.Ser634Arg)	DYSF (S602R +7 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 195490	NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)	DYSF (G618R +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GConflicting classifications of pathogenicity
Select item 3241383	NM_001130987.2(DYSF):c.1914C>G (p.Tyr638Ter)	DYSF (Y606* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 288438	NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)	DYSF (G621R +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GPathogenic/Likely pathogenic
Select item 281014	NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)	DYSF (M626T +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2674991	NM_001130987.2(DYSF):c.1984+2T>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 1322810	NM_001130987.2(DYSF):c.1985-1G>T	DYSF	Single nucleotide variant (splice acceptor variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic/Likely pathogenic
Select item 2674999	NM_001130987.2(DYSF):c.2110-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 963357	NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter)	DYSF (Q722* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic
Select item 2675003	NM_001130987.2(DYSF):c.2217-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674989	NM_001130987.2(DYSF):c.2310dup (p.Glu771Ter)	DYSF (E739* +7 more)	Duplication (nonsense)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 94286	NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)	DYSF (Q771* +7 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 282771	NM_001130987.2(DYSF):c.2409+1G>A	DYSF	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 496872	NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs)	DYSF (T819fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 551845	NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)	DYSF (Q850* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic
Select item 1075637	NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter)	DYSF (Q837* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic
Select item 2127680	NM_001130987.2(DYSF):c.2628del (p.Phe876fs)	DYSF (F858fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 2674980	NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)	DYSF (T867P +7 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic

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