C1850889[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 94355	NM_001130987.2(DYSF):c.759+1G>C	DYSF	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
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 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 6684	NM_001130987.2(DYSF):c.951+1del	DYSF	Deletion (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 265488	NM_001130987.2(DYSF):c.1693-6T>A	DYSF	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 1 +2 more	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 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 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 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 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 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 94291	NM_001130987.2(DYSF):c.2697+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1 +5 more	GPathogenic/Likely pathogenic
Select item 6685	NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)	DYSF (A914fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 167021	NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)	DYSF (W930C +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic/Likely pathogenic
Select item 443997	NM_001130987.2(DYSF):c.2864+1G>A	DYSF	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 289245	NM_001130987.2(DYSF):c.2864+5G>A	DYSF	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 284254	NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)	DYSF (R959W +7 more)	Single nucleotide variant (missense variant)	DYSF-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 551236	NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)	DYSF (W1010R +7 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +3 more	GPathogenic/Likely pathogenic
Select item 6674	NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)	DYSF (W999C +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic
Select item 284804	NM_001130987.2(DYSF):c.3085+2T>C	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic
Select item 196175	NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)	DYSF (Y1014C +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 498619	NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)	DYSF (I1018fs +7 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GPathogenic/Likely pathogenic
Select item 285200	NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)	DYSF (P1024L +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 217225	NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)	DYSF (R1038* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
Select item 242418	NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)	DYSF (R1038Q +7 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic/Likely pathogenic
Select item 282449	NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)	DYSF (R1039W +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 498954	NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)	DYSF (R1040W +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GPathogenic/Likely pathogenic
Select item 286743	NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)	DYSF (R1041C +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 6675	NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	DYSF (R1046H +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic/Likely pathogenic
Select item 983961	NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)	DYSF (E1053* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 196694	NM_001130987.2(DYSF):c.3403-2A>G	DYSF	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 94305	NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)	DYSF	Indel (nonsense)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 281063	NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)	DYSF (Q1178* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 282861	NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)	DYSF (K1156fs +7 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 284251	NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs)	DYSF (S1158fs +7 more)	Microsatellite (frameshift variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 370730	NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)	DYSF (S1160fs +7 more)	Duplication (frameshift variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 217226	NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)	DYSF	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
Select item 557310	NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)	DYSF (Q1201* +7 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more	GPathogenic
Select item 983964	NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)	DYSF (Y1192* +7 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GPathogenic/Likely pathogenic
Select item 558274	NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)	DYSF (E1287* +7 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 167025	NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)	DYSF (Q1278* +7 more)	Single nucleotide variant (nonsense)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 655896	NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)	DYSF (E1322K +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 555968	NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)	DYSF (L1341P +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 94320	NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)	DYSF (I1419fs +7 more)	Duplication (frameshift variant)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 841556	NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)	DYSF (C1399* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic
Select item 94321	NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)	DYSF (G1418D +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GPathogenic/Likely pathogenic
Select item 285584	NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)	DYSF (Y1433* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
Select item 984123	NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)	DYSF (E1440* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic/Likely pathogenic
Select item 290284	NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)	DYSF (Q1488* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic/Likely pathogenic
Select item 2585029	NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)	DYSF (W1464* +13 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 197433	NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)	DYSF (W1478* +13 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 550017	NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)	DYSF (Y1505C +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +5 more	GConflicting classifications of pathogenicity
Select item 550602	NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)	DYSF (L1505fs +13 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 286729	NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)	DYSF (M1549fs +13 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 94330	NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)	DYSF (R1586* +13 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +3 more	GPathogenic
Select item 94331	NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)	DYSF (K1598N +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +3 more	GConflicting classifications of pathogenicity
Select item 369690	NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)	DYSF (K1595fs +13 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 6669	NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)	DYSF (E1610fs +13 more)	Indel (frameshift variant)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic
Select item 281197	NM_001130987.2(DYSF):c.5003+1249G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 374503	NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)	DYSF (F1675fs +13 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic
Select item 553247	NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)	DYSF (C1678S +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GConflicting classifications of pathogenicity
Select item 984127	NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)	DYSF (Q1668* +13 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic/Likely pathogenic

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