"Revvity Omics, Revvity"[submitter] AND "DYSF"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2050745	NM_003494.4(DYSF):c.11T>G (p.Val4Gly)	DYSF (V4G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 502095	NM_003494.4(DYSF):c.17T>A (p.Ile6Asn)	DYSF (I6N)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 1075046	NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter)	DYSF (Y8*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 2058399	NM_003494.4(DYSF):c.46G>C (p.Asp16His)	DYSF (D16H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2688996	NM_003494.4(DYSF):c.88+10G>T	DYSF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 969261	NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr)	DYSF (K33T +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
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 289471	NM_001130987.2(DYSF):c.127G>A (p.Val43Met)	DYSF (V42M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2441104	NM_001130987.2(DYSF):c.128T>G (p.Val43Gly)	DYSF (V42G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 217222	NM_001130987.2(DYSF):c.167dup (p.Ile58fs)	DYSF (I57fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +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 336942	NM_001130987.2(DYSF):c.225G>A (p.Thr75=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 1000484	NM_001130987.2(DYSF):c.254C>A (p.Ala85Asp)	DYSF (A84D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284573	NM_001130987.2(DYSF):c.254C>T (p.Ala85Val)	DYSF (A84V +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 197217	NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)	DYSF (R89* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 850545	NM_001130987.2(DYSF):c.280_300dup (p.Ala94_Ala100dup)	DYSF	Duplication (inframe_insertion)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 1952837	NM_001130987.2(DYSF):c.298G>A (p.Ala100Thr)	DYSF (A100T +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 2690594	NM_001130987.2(DYSF):c.300del (p.Ser101fs)	DYSF (S100fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 579035	NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr)	DYSF (A116T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 94308	NM_001130987.2(DYSF):c.356del (p.Val119fs)	DYSF (V119fs +1 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
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 2441136	NM_001130987.2(DYSF):c.388G>T (p.Ala130Ser)	DYSF (A129S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596826	NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)	DYSF (P131R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 286226	NM_001130987.2(DYSF):c.410del (p.Pro137fs)	DYSF (P136fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 94322	NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)	DYSF (P143Q +1 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 2441134	NM_001130987.2(DYSF):c.460G>C (p.Gly154Arg)	DYSF (D153H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285148	NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)	DYSF (G187R +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 501816	NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys)	DYSF (E157K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 968508	NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro)	DYSF (T166P +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 286920	NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)	DYSF (G178R +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 1879474	NM_001130987.2(DYSF):c.635C>T (p.Pro212Leu)	DYSF (P180L +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 2071670	NM_001130987.2(DYSF):c.670C>T (p.Arg224Cys)	DYSF (R192C +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 1322805	NM_001130987.2(DYSF):c.689_690dup (p.Gly231fs)	DYSF (G199fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1322798	NM_001130987.2(DYSF):c.701del (p.Arg234fs)	DYSF (R202fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 94352	NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)	DYSF (R204* +3 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
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 1359794	NM_001130987.2(DYSF):c.734T>C (p.Leu245Pro)	DYSF (L214P +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 499205	NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu)	DYSF (P217L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2167434	NM_001130987.2(DYSF):c.766G>A (p.Val256Ile)	DYSF (V256I +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 259085	NM_001130987.2(DYSF):c.772G>A (p.Val258Met)	DYSF (V226M +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2441127	NM_001130987.2(DYSF):c.784C>T (p.Arg262Cys)	DYSF (R230C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500004	NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)	DYSF (P233L +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 198495	NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)	DYSF (G234E +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic
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 198494	NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)	DYSF (N236T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2441133	NM_001130987.2(DYSF):c.811C>G (p.Pro271Ala)	DYSF (P239A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947275	NM_001130987.2(DYSF):c.832G>T (p.Ala278Ser)	DYSF (A278S +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 288189	NM_001130987.2(DYSF):c.847C>T (p.Arg283Trp)	DYSF (R283W +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 94358	NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)	DYSF (T252M +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 284800	NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)	DYSF (R285W +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic/Likely pathogenic
Select item 283965	NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)	DYSF (R253Q +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +5 more	GConflicting classifications of pathogenicity
Select item 1446576	NM_001130987.2(DYSF):c.857T>G (p.Ile286Ser)	DYSF (I254S +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 288648	NM_001130987.2(DYSF):c.870C>G (p.Asn290Lys)	DYSF (N258K +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 2441139	NM_001130987.2(DYSF):c.875C>T (p.Pro292Leu)	DYSF (P260L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 538634	NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)	DYSF (N263S +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GUncertain significance
Select item 555171	NM_001130987.2(DYSF):c.892_893del (p.Leu298fs)	DYSF (L267fs +3 more)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
Select item 500528	NM_001130987.2(DYSF):c.906G>A (p.Leu302=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 288650	NM_001130987.2(DYSF):c.938C>T (p.Pro313Leu)	DYSF (P281L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 557778	NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr)	DYSF (I284T +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 500937	NM_001130987.2(DYSF):c.950C>T (p.Thr317Met)	DYSF (T285M +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GUncertain significance
Select item 2439973	NM_001130987.2(DYSF):c.952-2_952-1del	DYSF	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 94365	NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)	DYSF (V286E +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 502094	NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys)	DYSF (S289C +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 1053245	NM_001130987.2(DYSF):c.989T>G (p.Leu330Arg)	DYSF (L298R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 6682	NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)	DYSF (G299W +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 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)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic
Select item 1360207	NM_001130987.2(DYSF):c.1000C>T (p.Arg334Trp)	DYSF (R302W +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 2441126	NM_001130987.2(DYSF):c.1001G>A (p.Arg334Gln)	DYSF (R302Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 94367	NM_001130987.2(DYSF):c.1033+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
Select item 498216	NM_001130987.2(DYSF):c.1033+4A>T	DYSF	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2441119	NM_001130987.2(DYSF):c.1033+5G>A	DYSF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 287822	NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr)	DYSF (A347T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1508646	NM_001130987.2(DYSF):c.1055G>C (p.Trp352Ser)	DYSF (W320S +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 551891	NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)	DYSF (S372R +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 597008	NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)	DYSF	Single nucleotide variant (synonymous variant)	DYSF-related disorder +2 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 488834	NM_001130987.2(DYSF):c.1149+5G>A	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 941808	NM_001130987.2(DYSF):c.1192del (p.Ser398fs)	DYSF (S398fs +3 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic/Likely pathogenic
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 265487	NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)	DYSF (R377* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 284934	NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)	DYSF (G378E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1324312	NM_001130987.2(DYSF):c.1233_1239dup (p.Cys414fs)	DYSF (C382fs +3 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2441106	NM_001130987.2(DYSF):c.1235A>T (p.His412Leu)	DYSF (H380L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984388	NM_001130987.2(DYSF):c.1241G>A (p.Cys414Tyr)	DYSF (C414Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287943	NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)	DYSF (R387W +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2441157	NM_001130987.2(DYSF):c.1256G>T (p.Arg419Leu)	DYSF (R387L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 290096	NM_001130987.2(DYSF):c.1271C>T (p.Pro424Leu)	DYSF (P392L +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 2162951	NM_001130987.2(DYSF):c.1276A>C (p.Met426Leu)	DYSF (M394L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 847476	NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val)	DYSF (A398V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 291123	NM_001130987.2(DYSF):c.1329C>A (p.Asn443Lys)	DYSF (N411K +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 1322811	NM_001130987.2(DYSF):c.1330A>T (p.Lys444Ter)	DYSF (K412* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2441116	NM_001130987.2(DYSF):c.1333A>G (p.Lys445Glu)	DYSF (K413E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441118	NM_001130987.2(DYSF):c.1343T>C (p.Val448Ala)	DYSF (V416A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430112	NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp)	DYSF (N439D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288879	NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)	DYSF (M451I +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 704480	NM_001130987.2(DYSF):c.1449+3G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity

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