ClinVar for MedGen (Select 1640757) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2675002	NM_001130987.2(DYSF):c.1272_1276+3dup	DYSF	Duplication (splice donor variant)	Miyoshi muscular dystrophy 1 +1 more	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 2674995	NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)	DYSF (W320* +3 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +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 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 2674983	NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs)	DYSF (S1250fs +7 more)	Duplication (frameshift variant)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic/Likely 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 2674972	NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)	DYSF (C1664R +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic/Likely 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 2674961	NM_001130987.2(DYSF):c.959dup (p.Asp320fs)	DYSF (D288fs +3 more)	Duplication (frameshift variant)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic/Likely 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 2674957	NM_001130987.2(DYSF):c.2891del (p.His964fs)	DYSF (H932fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic
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 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 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 2585206	NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs)	DYSF (R1027fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	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 2501144	NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)	DYSF (E1000* +7 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GLikely pathogenic
Select item 2439954	NM_001130987.2(DYSF):c.4755+1G>A	DYSF	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2203093	NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)	DYSF (R1329G +7 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 2175029	NM_001130987.2(DYSF):c.4528-2del	DYSF	Deletion (splice acceptor variant)	Miyoshi muscular dystrophy 1 +1 more	GLikely pathogenic
Select item 2153164	NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)	DYSF (W1125R +7 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +1 more	GLikely pathogenic
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 2094308	NM_001130987.2(DYSF):c.6173+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Qualitative or quantitative defects of dysferlin +1 more	GLikely pathogenic
Select item 1803964	NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)	DYSF (E1068* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GPathogenic
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

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