Related gene-specific medical variations for Gene (Select 8291) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362453	NM_001130987.2(DYSF):c.3019C>A (p.Pro1007Thr)	DYSF (P1006T +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 3247377	NC_000002.11:g.(?_71793586)_(71797845_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247376	NC_000002.11:g.(?_71795061)_(71801521_?)dup	DYSF	Duplication	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 3247375	NC_000002.11:g.(?_71740826)_(71913622_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247374	NC_000002.11:g.(?_71895864)_(71901446_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247373	NC_000002.11:g.(?_71730344)_(71762441_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GLikely pathogenic
Select item 3247372	NC_000002.11:g.(?_71795061)_(71801521_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247371	NC_000002.11:g.(?_71783075)_(71817438_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247370	NC_000002.11:g.(?_71762131)_(71766389_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247368	NC_000002.11:g.(?_71908111)_(71908260_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247367	NC_000002.11:g.(?_71906167)_(71906385_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247366	NC_000002.11:g.(?_71708989)_(71709120_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247365	NC_000002.11:g.(?_71783075)_(71783221_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	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 3241384	NM_001130987.2(DYSF):c.5562T>A (p.Cys1854Ter)	DYSF (C1801* +13 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GLikely pathogenic
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 3241382	NM_001130987.2(DYSF):c.951+2T>C	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241381	NM_001130987.2(DYSF):c.2964del (p.Asp988fs)	DYSF (D1001fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
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 3241379	NM_001130987.2(DYSF):c.3228+2T>C	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241378	NM_001130987.2(DYSF):c.6321+1G>C	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
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 3241376	NM_001130987.2(DYSF):c.2864+1G>C	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	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 3241374	NM_001130987.2(DYSF):c.5175-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241373	NM_001130987.2(DYSF):c.4771del (p.Tyr1591fs)	DYSF (Y1538fs +13 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241372	NM_001130987.2(DYSF):c.3164_3165del (p.His1055fs)	DYSF (H1023fs +7 more)	Microsatellite (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely 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 3069154	NM_001130987.2(DYSF):c.3838_3841del (p.Arg1280fs)	DYSF (R1248fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3062053	NM_001130987.2(DYSF):c.5247_5248del (p.Arg1749fs)	DYSF (R1696fs +13 more)	Microsatellite (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 2903117	NM_001130987.2(DYSF):c.3957+14G>A	DYSF, LOC122787137	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2741982	NM_001130987.2(DYSF):c.3928-19T>A	DYSF, LOC122787137	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2730378	NM_001130987.2(DYSF):c.3957+12G>A	DYSF, LOC122787137	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2725174	NM_001130987.2(DYSF):c.3957+8G>T	DYSF, LOC122787137	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2690594	NM_001130987.2(DYSF):c.300del (p.Ser101fs)	DYSF (S100fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2689112	NM_001130987.2(DYSF):c.3051G>A (p.Trp1017Ter)	DYSF (W1000* +7 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2688996	NM_003494.4(DYSF):c.88+10G>T	DYSF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2688995	NM_001130987.2(DYSF):c.1827G>C (p.Lys609Asn)	DYSF (K577N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688994	NM_001130987.2(DYSF):c.4777C>T (p.Leu1593Phe)	DYSF (L1540F +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688993	NM_001130987.2(DYSF):c.6321+5G>A	DYSF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2688992	NM_001130987.2(DYSF):c.5860A>G (p.Lys1954Glu)	DYSF (K1901E +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688991	NM_001130987.2(DYSF):c.3285G>T (p.Trp1095Cys)	DYSF (W1063C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688990	NM_001130987.2(DYSF):c.4292G>C (p.Arg1431Pro)	DYSF (R1399P +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2675007	NM_001130987.2(DYSF):c.3812del (p.Pro1271fs)	DYSF (P1239fs +7 more)	Deletion (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 2675005	NM_001130987.2(DYSF):c.1577-21_1586delinsGGCTT	DYSF	Indel (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely 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 2675003	NM_001130987.2(DYSF):c.2217-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2675001	NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)	DYSF (S1944F +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1	GPathogenic
Select item 2675000	NM_001130987.2(DYSF):c.3443_3453dup (p.Ser1152_Phe1153insProProTer)	DYSF	Duplication (nonsense +1 more)	Miyoshi muscular dystrophy 1	GPathogenic
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 2674998	NM_001130987.2(DYSF):c.3894_3895dup (p.Lys1299fs)	DYSF (K1267fs +7 more)	Microsatellite (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674997	NM_001130987.2(DYSF):c.4328dup (p.Glu1444fs)	DYSF (E1412fs +7 more)	Duplication (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674996	NM_001130987.2(DYSF):c.5642+3A>G	DYSF	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 1	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 2674993	NM_001130987.2(DYSF):c.3260G>A (p.Trp1087Ter)	DYSF (W1055* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674992	NM_001130987.2(DYSF):c.2807dup (p.Arg937fs)	DYSF (R905fs +7 more)	Duplication (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
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 2674990	NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)	DYSF (E1940* +13 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GPathogenic
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 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 2674987	NM_001130987.2(DYSF):c.641del (p.Ala214fs)	DYSF (A182fs +3 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674986	NM_001130987.2(DYSF):c.4379_4382del (p.Gly1460fs)	DYSF (G1428fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely 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 2674984	NM_001130987.2(DYSF):c.3666del (p.Phe1223fs)	DYSF (F1191fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674982	NM_001130987.2(DYSF):c.6155del (p.Pro2052fs)	DYSF (P1999fs +13 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 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
Select item 2674979	NM_001130987.2(DYSF):c.2947del (p.Trp983fs)	DYSF (W951fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
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 2674977	NM_001130987.2(DYSF):c.1806+1G>T	DYSF	Single nucleotide variant (splice donor 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 2674975	NM_001130987.2(DYSF):c.3672C>G (p.Tyr1224Ter)	DYSF (Y1192* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GPathogenic
Select item 2674974	NM_001130987.2(DYSF):c.5861del (p.Lys1954fs)	DYSF (K1901fs +13 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674973	NM_001130987.2(DYSF):c.3157_3158del (p.Tyr1053fs)	DYSF (Y1021fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674971	NM_001130987.2(DYSF):c.5458-2A>G	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
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 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 2674968	NM_001130987.2(DYSF):c.859del (p.His287fs)	DYSF (H255fs +3 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GPathogenic
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 2674966	NM_001130987.2(DYSF):c.5642+2T>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674964	NM_001130987.2(DYSF):c.997_1002+1delinsAAAA	DYSF	Indel (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674963	NM_001130987.2(DYSF):c.3270_3282del (p.Ser1091fs)	DYSF (S1059fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674960	NM_001130987.2(DYSF):c.6019_6020insACACA (p.Trp2007fs)	DYSF (W1954fs +13 more)	Insertion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674958	NM_001130987.2(DYSF):c.5642_5642+12del	DYSF	Deletion (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2674956	NM_001130987.2(DYSF):c.6198G>A (p.Trp2066Ter)	DYSF (W2013* +13 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GPathogenic
Select item 2441158	NM_003494.4(DYSF):c.33C>G (p.Asn11Lys)	DYSF (N11K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441155	NM_001130987.2(DYSF):c.1135G>A (p.Gly379Arg)	DYSF (G347R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441154	NM_001130987.2(DYSF):c.5438T>A (p.Leu1813Gln)	DYSF (L1760Q +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441152	NM_001130987.2(DYSF):c.3208C>A (p.Gln1070Lys)	DYSF (Q1038K +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441151	NM_001130987.2(DYSF):c.106A>T (p.Thr36Ser)	DYSF (T35S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441150	NM_001130987.2(DYSF):c.6239G>A (p.Arg2080Gln)	DYSF (R2027Q +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441148	NM_001130987.2(DYSF):c.3085G>A (p.Gly1029Ser)	DYSF (G1011S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441147	NM_001130987.2(DYSF):c.3212T>G (p.Met1071Arg)	DYSF (M1039R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441146	NM_001130987.2(DYSF):c.4627-10T>G	DYSF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2441144	NM_001130987.2(DYSF):c.3170G>T (p.Arg1057Leu)	DYSF (R1025L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441143	NM_001130987.2(DYSF):c.5831G>C (p.Arg1944Pro)	DYSF (R1891P +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441142	NM_001130987.2(DYSF):c.3527T>C (p.Met1176Thr)	DYSF (M1144T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441141	NM_001130987.2(DYSF):c.4219G>A (p.Val1407Met)	DYSF (V1375M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441138	NM_001130987.2(DYSF):c.6002A>T (p.Gln2001Leu)	DYSF (Q1948L +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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