C1850889[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555456	NM_003494.4(DYSF):c.1A>G (p.Met1Val)	DYSF (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 553165	NM_003494.4(DYSF):c.2T>C (p.Met1Thr)	DYSF (M1T)	Single nucleotide variant (missense variant +1 more)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic/Likely pathogenic
Select item 558718	NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)	DYSF (C24fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 554094	NM_003494.4(DYSF):c.75C>T (p.Ser25=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin +1 more	GLikely benign
Select item 558667	NM_001130987.2(DYSF):c.46AAG[1] (p.Lys17del)	DYSF (K17del)	Microsatellite (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely benign
Select item 283497	NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)	DYSF (W53* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 284469	NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)	DYSF (V69G +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 555783	NM_001130987.2(DYSF):c.240-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
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 552146	NM_001130987.2(DYSF):c.298_300del (p.Ala100del)	DYSF (A100del +1 more)	Deletion (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
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 94311	NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)	DYSF (G128E +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 284579	NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)	DYSF (P135L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 550404	NM_001130987.2(DYSF):c.460+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic/Likely pathogenic
Select item 555133	NM_001130987.2(DYSF):c.461-1G>A	DYSF	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
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 554549	NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp)	DYSF (G179D +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
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 551826	NM_001130987.2(DYSF):c.760-7_760-6delinsATCC	DYSF	Indel (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
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 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 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 499095	NM_001130987.2(DYSF):c.922del (p.Glu308fs)	DYSF (E277fs +3 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GPathogenic
Select item 557778	NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr)	DYSF (I284T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 556459	NM_001130987.2(DYSF):c.952-2A>G	DYSF	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GLikely 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 552632	NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)	DYSF (G331E +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
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 288411	NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)	DYSF	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +6 more	GConflicting classifications of pathogenicity
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 259064	NM_001130987.2(DYSF):c.1149+7A>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +2 more	GLikely benign
Select item 94264	NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)	DYSF (V374L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GConflicting classifications of pathogenicity
Select item 555553	NM_001130987.2(DYSF):c.1258dup (p.Ala420fs)	DYSF (A419fs +3 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely 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 552312	NM_001130987.2(DYSF):c.1332GAA[1] (p.Lys445del)	DYSF (K413del +3 more)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GUncertain significance
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 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 554978	NM_001130987.2(DYSF):c.1449+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
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 554741	NM_001130987.2(DYSF):c.1493+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Qualitative or quantitative defects of dysferlin +1 more	GLikely pathogenic
Select item 94272	NM_001130987.2(DYSF):c.1494-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic/Likely pathogenic
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 552908	NM_001130987.2(DYSF):c.1576+18T>C	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GConflicting classifications of pathogenicity
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 552819	NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs)	DYSF (D508fs +3 more)	Indel (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 552023	NM_001130987.2(DYSF):c.1577-2A>G	DYSF	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 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 336956	NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)	DYSF (R582L +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 259068	NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)	DYSF	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more	GConflicting classifications of pathogenicity
Select item 290309	NM_001130987.2(DYSF):c.2217-2A>G	DYSF	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 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 555249	NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup)	DYSF	Duplication (inframe_insertion)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 288493	NM_001130987.2(DYSF):c.2462G>A (p.Arg821His)	DYSF (R821H +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GUncertain significance
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 556235	NM_001130987.2(DYSF):c.2698-2A>G	DYSF	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
Select item 94292	NM_001130987.2(DYSF):c.2706C>T (p.Asn902=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 556401	NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del)	DYSF	Deletion (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 554573	NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu)	DYSF (S921L +7 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 288644	NM_001130987.2(DYSF):c.2865-2A>C	DYSF	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
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 554130	NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp)	DYSF (R1005W +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GUncertain significance
Select item 94298	NM_001130987.2(DYSF):c.3086-17G>T	DYSF	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 554391	NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup)	DYSF	Duplication (inframe_insertion)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GUncertain significance
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 284003	NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)	DYSF (P1020L +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GConflicting classifications of pathogenicity
Select item 94299	NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin +4 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 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 556685	NM_001130987.2(DYSF):c.3228+8_3228+33del	DYSF	Deletion (intron variant)	Qualitative or quantitative defects of dysferlin +1 more	GLikely benign
Select item 553425	NM_001130987.2(DYSF):c.3239CGGAGG[4] (p.1080AE[4])	DYSF	Microsatellite (inframe_insertion)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 556936	NM_001130987.2(DYSF):c.3314_3316dup (p.Asp1105dup)	DYSF	Duplication (inframe_insertion)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 557037	NM_001130987.2(DYSF):c.3322CGC[5] (p.Arg1111dup)	DYSF	Microsatellite (inframe_insertion)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 555223	NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del)	DYSF (W1094del +7 more)	Deletion (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GConflicting classifications of pathogenicity
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 210899	NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)	DYSF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity

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