C5553104[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284816	NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)	DYSF (V68L +1 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 336942	NM_001130987.2(DYSF):c.225G>A (p.Thr75=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 336943	NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala)	DYSF (T124A +1 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GUncertain significance
Select item 94312	NM_001130987.2(DYSF):c.396C>T (p.Pro132=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +7 more	GBenign/Likely benign
Select item 94322	NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)	DYSF (P143Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 336944	NM_001130987.2(DYSF):c.558A>G (p.Thr186=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 94343	NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)	DYSF (L189V +3 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GBenign/Likely benign
Select item 94345	NM_001130987.2(DYSF):c.666T>C (p.Pro222=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GBenign/Likely benign
Select item 336945	NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)	DYSF (T208A +3 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 336946	NM_001130987.2(DYSF):c.759+10G>A	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 289140	NM_001130987.2(DYSF):c.799G>A (p.Val267Met)	DYSF (V235M +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GConflicting classifications of pathogenicity
Select item 94361	NM_001130987.2(DYSF):c.888+11T>C	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 94364	NM_001130987.2(DYSF):c.951+4T>C	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GBenign/Likely benign
Select item 285822	NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)	DYSF	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 94369	NM_001130987.2(DYSF):c.1038C>T (p.His346=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +5 more	GBenign/Likely benign
Select item 288411	NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)	DYSF	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 336947	NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 94265	NM_001130987.2(DYSF):c.1276+11C>T	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 336948	NM_001130987.2(DYSF):c.1276+13C>T	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 336949	NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 284511	NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 336950	NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)	DYSF (A457V +3 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 128945	NM_001130987.2(DYSF):c.1380+6G>C	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 282209	NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)	DYSF (M483V +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +5 more	GConflicting classifications of pathogenicity
Select item 94268	NM_001130987.2(DYSF):c.1449+13C>T	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +6 more	GBenign
Select item 283459	NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)	DYSF (R494H +3 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 336951	NM_001130987.2(DYSF):c.1493+13T>C	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336952	NM_001130987.2(DYSF):c.1503G>A (p.Leu501=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 336953	NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser)	DYSF (N504S +3 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GUncertain significance
Select item 336954	NM_001130987.2(DYSF):c.1577-1639G>C	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 94275	NM_001130987.2(DYSF):c.1577-1635C>G	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GBenign/Likely benign
Select item 336955	NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)	DYSF (A577V +7 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 336956	NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)	DYSF (R582L +7 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 336957	NM_001130987.2(DYSF):c.1807-10C>T	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 94281	NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +7 more	GBenign
Select item 94282	NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 336958	NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 94283	NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 195598	NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)	DYSF (K656E +7 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +7 more	GConflicting classifications of pathogenicity
Select item 290745	NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)	DYSF (G698V +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GConflicting classifications of pathogenicity
Select item 289483	NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)	DYSF	Single nucleotide variant (synonymous variant)	DYSF-related condition +4 more	GConflicting classifications of pathogenicity
Select item 94285	NM_001130987.2(DYSF):c.2217-11G>A	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 290257	NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)	DYSF (H735N +7 more)	Single nucleotide variant (missense variant)	DYSF-related condition +4 more	GConflicting classifications of pathogenicity
Select item 167018	NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 195748	NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys)	DYSF (R778C +7 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GUncertain significance
Select item 336959	NM_001130987.2(DYSF):c.2409+14G>A	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 283977	NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)	DYSF (R808Q +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +6 more	GConflicting classifications of pathogenicity
Select item 94289	NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)	DYSF (I834V +7 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GBenign/Likely benign
Select item 336960	NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr)	DYSF (A846T +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 94290	NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +7 more	GBenign
Select item 284580	NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)	DYSF (E890K +7 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 336961	NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg)	DYSF (K912R +7 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GUncertain significance
Select item 336962	NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile)	DYSF (T937I +7 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GUncertain significance
Select item 196022	NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)	DYSF (M968L +7 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +6 more	GConflicting classifications of pathogenicity
Select item 259072	NM_001130987.2(DYSF):c.2980-15C>T	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 282765	NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)	DYSF (K1001T +7 more)	Single nucleotide variant (missense variant)	DYSF-related condition +4 more	GConflicting classifications of pathogenicity
Select item 336963	NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala)	DYSF (S1000A +7 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GUncertain significance
Select item 281683	NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)	DYSF	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 94299	NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 336964	NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)	DYSF (T1036I +7 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 94301	NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])	DYSF	Microsatellite (inframe_insertion)	Limb-Girdle Muscular Dystrophy, Recessive +7 more	GBenign/Likely benign
Select item 336965	NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)	DYSF (V1130I +7 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 94307	NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 336966	NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys)	DYSF (R1242C +7 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GUncertain significance
Select item 336967	NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu)	DYSF (P1266L +7 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GUncertain significance
Select item 259077	NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 291062	NM_001130987.2(DYSF):c.3898-4C>G	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 336968	NM_001130987.2(DYSF):c.3927+10G>A	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GUncertain significance
Select item 94314	NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +4 more	GBenign
Select item 336969	NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)	DYSF (I1325V +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 94316	NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +7 more	GBenign
Select item 290670	NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)	DYSF (R1342Q +7 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 94318	NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GBenign/Likely benign
Select item 336970	NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 287813	NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)	DYSF	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 336971	NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)	DYSF (P1400A +7 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 94323	NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 336972	NM_001130987.2(DYSF):c.4464+7T>C	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 282699	NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)	DYSF	Single nucleotide variant (synonymous variant)	DYSF-related condition +4 more	GConflicting classifications of pathogenicity
Select item 336973	NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)	DYSF (K1497N +13 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 94325	NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 285741	NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)	DYSF (P1555S +13 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 94328	NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 94329	NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)	DYSF (R1581H +13 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 336974	NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 288630	NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)	DYSF (A1715S +13 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +6 more	GConflicting classifications of pathogenicity
Select item 336975	NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile)	DYSF (T1804I +13 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GUncertain significance
Select item 336976	NM_001130987.2(DYSF):c.5643-12A>G	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 94341	NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)	DYSF (D1876N +13 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 291071	NM_001130987.2(DYSF):c.5785-8C>T	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 94348	NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 288412	NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg)	DYSF (S1995R +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GConflicting classifications of pathogenicity
Select item 197967	NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)	DYSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 336977	NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys)	DYSF (R2020C +13 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GUncertain significance
Select item 94353	NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)	DYSF (I2047V +13 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 94354	NM_001130987.2(DYSF):c.6321+15C>T	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 336978	NM_001130987.2(DYSF):c.*53G>A	DYSF	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of dysferlin +3 more	GConflicting classifications of pathogenicity
Select item 336979	NM_001130987.2(DYSF):c.*75C>T	DYSF	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 336980	NM_001130987.2(DYSF):c.*78C>T	DYSF	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 336981	NM_001130987.2(DYSF):c.*142G>A	DYSF	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GUncertain significance

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