ClinVar for MedGen (Select 338149) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235265	NM_001130987.2(DYSF):c.6021G>T (p.Trp2007Cys)	DYSF (W1954C +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 3024135	NM_001130987.2(DYSF):c.2864+1dup	DYSF	Duplication (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 2627977	NM_001130987.2(DYSF):c.3322CGC[1] (p.Arg1109_Arg1111del)	DYSF	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 2585565	NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)	DYSF	Deletion (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GLikely pathogenic
Select item 2585425	NM_001130987.2(DYSF):c.982del (p.Ala328fs)	DYSF (A296fs +3 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 2585260	NM_001130987.2(DYSF):c.952-3C>G	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GUncertain significance
Select item 2585239	NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)	DYSF (R386* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely 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 2585024	NM_001130987.2(DYSF):c.362A>C (p.Gln121Pro)	DYSF (Q120P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 2584959	NM_001130987.2(DYSF):c.5719A>G (p.Asn1907Asp)	DYSF (N1875D +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 2584889	NM_001130987.2(DYSF):c.3646A>G (p.Thr1216Ala)	DYSF (T1215A +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 2579224	GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0	DYSF, LOC122787136	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
Select item 2579223	GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0	DYSF	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 2570601	NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)	DYSF (R1715P +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 2506389	NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)	DYSF (L1945P +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 2500823	NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)	DYSF (M1114fs +7 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 2152156	NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)	DYSF (P1689L +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 1805674	NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)	DYSF (L2035F +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 1802250	NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)	DYSF (D1841fs +13 more)	Insertion (frameshift variant)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic
Select item 1726995	NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)	DYSF	Indel (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726964	NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)	DYSF (F1460fs +13 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726908	NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)	DYSF (I1320fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726832	NM_001130987.2(DYSF):c.2253del (p.Thr752fs)	DYSF (T720fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726733	NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)	DYSF (Y1419fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726692	NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)	DYSF (K851fs +7 more)	Microsatellite (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726634	NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)	DYSF (L1495fs +13 more)	Indel (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726610	NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)	DYSF (E1994fs +13 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726586	NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)	DYSF (Y1480* +13 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726447	NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)	DYSF (P1418fs +7 more)	Insertion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726436	NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)	DYSF (A1699fs +13 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726372	NM_001130987.2(DYSF):c.640del (p.Ala214fs)	DYSF (A182fs +3 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726282	NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)	DYSF (W1678* +13 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726192	NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)	DYSF (P136fs +1 more)	Indel (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726187	NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)	DYSF (V1697fs +13 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726174	NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)	DYSF (E750fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1726114	NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)	DYSF (Y1670fs +13 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725889	NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)	DYSF (E1867* +13 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725723	NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)	DYSF (Y479fs +3 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725536	NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)	DYSF (T184fs +3 more)	Indel (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725487	NM_001130987.2(DYSF):c.561del (p.Gly188fs)	DYSF (G156fs +3 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725380	NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)	DYSF (L1760fs +13 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725376	NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)	DYSF (K812* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725369	NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)	DYSF (E715* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725353	NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)	DYSF (K1630fs +13 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725203	NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)	DYSF (Y633* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725157	NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)	DYSF (E1972fs +13 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725136	NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)	DYSF (K216* +3 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725015	NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)	DYSF (G1052fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1725007	NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)	DYSF (Y525fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724993	NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)	DYSF (D107fs +1 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724977	NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)	DYSF (K896* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724930	NM_001130987.2(DYSF):c.1597del (p.Leu533fs)	DYSF (L501fs +7 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GPathogenic/Likely pathogenic
Select item 1724893	NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)	DYSF (K1010* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724817	NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)	DYSF (K201* +3 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely 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 1724791	NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)	DYSF (W912* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +3 more	GPathogenic/Likely pathogenic
Select item 1724785	NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)	DYSF (Y1702* +13 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724742	NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)	DYSF (E359* +3 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724499	NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)	DYSF (Y1588* +13 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GPathogenic/Likely pathogenic
Select item 1724430	NM_001130987.2(DYSF):c.994del (p.Glu332fs)	DYSF (E300fs +3 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724360	NM_001130987.2(DYSF):c.316del (p.Leu106fs)	DYSF (L105fs +1 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724316	NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)	DYSF (Y727fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724146	NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)	DYSF (I713fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724071	NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)	DYSF (A1968fs +13 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724068	NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)	DYSF (F1191fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724053	NM_001130987.2(DYSF):c.181del (p.Asp61fs)	DYSF (D60fs +1 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724018	NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)	DYSF (A587fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1724006	NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)	DYSF (K1712* +13 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1723990	NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)	DYSF (L106fs +1 more)	Indel (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1723974	NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)	DYSF (P1092fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1723959	NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)	DYSF (A1041fs +7 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 1723951	NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)	DYSF (W1013* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +3 more	GLikely pathogenic
Select item 1709729	NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser)	DYSF (T911S +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more	GUncertain significance
Select item 1709644	NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)	DYSF (R1856fs +13 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 1709480	NM_001130987.2(DYSF):c.5643-15A>G	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 1708554	NM_001130987.2(DYSF):c.5912T>A (p.Met1971Lys)	DYSF (M1918K +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 1708553	NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)	DYSF (Q225* +3 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 1708552	NM_001130987.2(DYSF):c.5375A>G (p.His1792Arg)	DYSF (H1739R +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 1708551	NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter)	DYSF (Y792* +7 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
Select item 1708550	NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter)	DYSF (C1928* +13 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
Select item 1708549	NM_001130987.2(DYSF):c.3340C>A (p.Arg1114Ser)	DYSF (R1082S +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 1708548	NM_001130987.2(DYSF):c.5096_5115delinsA (p.Gly1699fs)	DYSF (G1646fs +13 more)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
Select item 1708547	NM_001130987.2(DYSF):c.3702del (p.Val1235fs)	DYSF (V1203fs +7 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
Select item 1708546	NM_001130987.2(DYSF):c.3080A>G (p.Glu1027Gly)	DYSF (E1009G +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 1698871	NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)	DYSF (L344P +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 1697322	NM_001130987.2(DYSF):c.5621del (p.Met1874fs)	DYSF (M1821fs +13 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
Select item 1678554	NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln)	DYSF (R204Q +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 1515960	NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly)	DYSF (E1000G +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GUncertain significance
Select item 1513475	NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly)	DYSF (D304G +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GUncertain significance
Select item 1510740	NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln)	DYSF (R945Q +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GLikely pathogenic
Select item 1475934	NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser)	DYSF (G1119S +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 1437442	NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)	DYSF (R370Q +3 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +3 more	GConflicting classifications of pathogenicity
Select item 1433815	NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter)	DYSF (Q725* +7 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GPathogenic/Likely pathogenic
Select item 1350756	NM_001130987.2(DYSF):c.2697+5G>A	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GConflicting classifications of pathogenicity
Select item 1300185	NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)	DYSF (E1610fs +13 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GPathogenic
Select item 1256113	NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala)	DYSF (P2017A +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201598	NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu)	DYSF (P125L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1199360	NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln)	DYSF (L1811Q +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +2 more	GUncertain significance
Select item 1199359	NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys)	DYSF (N439K +3 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +2 more	GUncertain significance
Select item 1199341	NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)	DYSF (P1667A +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GConflicting classifications of pathogenicity

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