"Ambry Genetics"[submitter] AND "DYSF"[gene] - ClinVar

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 502553	NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)	DYSF (N43K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 538638	NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg)	DYSF (S97R +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 2476562	NM_001130987.2(DYSF):c.296C>T (p.Ser99Phe)	DYSF (S98F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579035	NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr)	DYSF (A116T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 597683	NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)	DYSF (S117L +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 94311	NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)	DYSF (G128E +1 more)	Single nucleotide variant (missense variant)	DYSF-related condition +8 more	GConflicting classifications of pathogenicity
Select item 596826	NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)	DYSF (P131R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 283965	NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)	DYSF (R253Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 2398182	NM_001130987.2(DYSF):c.1252T>C (p.Phe418Leu)	DYSF (F386L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441157	NM_001130987.2(DYSF):c.1256G>T (p.Arg419Leu)	DYSF (R387L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 285664	NM_001130987.2(DYSF):c.1332G>T (p.Lys444Asn)	DYSF (K412N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 596008	NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)	DYSF (T437M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2289588	NM_001130987.2(DYSF):c.1409C>T (p.Ala470Val)	DYSF (A438V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 582717	NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu)	DYSF (S503L +3 more)	Single nucleotide variant (missense variant +1 more)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 538642	NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly)	DYSF (E559G +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 2556858	NM_001130987.2(DYSF):c.1694G>A (p.Gly565Glu)	DYSF (G565E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 195489	NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys)	DYSF (R590C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2081059	NM_001130987.2(DYSF):c.1883C>G (p.Ala628Gly)	DYSF (A611G +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 285943	NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr)	DYSF (S662T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 259069	NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)	DYSF (L685V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2060758	NM_001130987.2(DYSF):c.2194G>A (p.Asp732Asn)	DYSF (D701N +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 1358560	NM_001130987.2(DYSF):c.2206G>A (p.Ala736Thr)	DYSF (A718T +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 1376737	NM_001130987.2(DYSF):c.2476C>T (p.Arg826Trp)	DYSF (R808W +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 501554	NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser)	DYSF (P810S +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 664171	NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)	DYSF (A798T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2241520	NM_001130987.2(DYSF):c.2500T>C (p.Phe834Leu)	DYSF (F834L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 336960	NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr)	DYSF (A846T +7 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GUncertain significance
Select item 497494	NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp)	DYSF (R847W +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287785	NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp)	DYSF (R853W +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1021657	NM_001130987.2(DYSF):c.2657A>G (p.Asn886Ser)	DYSF (N854S +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 195961	NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile)	DYSF (V891I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 585815	NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)	DYSF (T897M +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1410968	NM_001130987.2(DYSF):c.2750T>A (p.Leu917His)	DYSF (L917H +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 1988078	NM_001130987.2(DYSF):c.2777C>T (p.Thr926Met)	DYSF (T895M +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 2601185	NM_001130987.2(DYSF):c.2803A>C (p.Ser935Arg)	DYSF (S903R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 597129	NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)	DYSF (R1062H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 968829	NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val)	DYSF (A1048V +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 2560109	NM_001130987.2(DYSF):c.3269C>G (p.Ala1090Gly)	DYSF (A1059G +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288793	NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys)	DYSF (R1093C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1419951	NM_001130987.2(DYSF):c.3356T>A (p.Leu1119Gln)	DYSF (L1119Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2274834	NM_001130987.2(DYSF):c.3380T>G (p.Val1127Gly)	DYSF (V1141G +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 290345	NM_001130987.2(DYSF):c.3493G>C (p.Asp1165His)	DYSF (D1147H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 501286	NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His)	DYSF (R1151H +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 281301	NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)	DYSF (D1181N +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2335072	NM_001130987.2(DYSF):c.3755A>G (p.Tyr1252Cys)	DYSF (Y1265C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 196895	NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)	DYSF (R1254W +7 more)	Single nucleotide variant (missense variant)	DYSF-related condition +5 more	GConflicting classifications of pathogenicity
Select item 2339994	NM_001130987.2(DYSF):c.3881T>A (p.Leu1294His)	DYSF (L1294H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 197005	NM_001130987.2(DYSF):c.3958T>C (p.Ser1320Pro)	DYSF (S1302P +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 290670	NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)	DYSF (R1342Q +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GConflicting classifications of pathogenicity
Select item 2048971	NM_001130987.2(DYSF):c.4178G>A (p.Arg1393Gln)	DYSF (R1375Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 501769	NM_001130987.2(DYSF):c.4191C>A (p.Asn1397Lys)	DYSF (N1379K +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 569799	NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His)	DYSF (R1413H +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 283624	NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)	DYSF (S1434L +7 more)	Single nucleotide variant (missense variant)	DYSF-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1521208	NM_001130987.2(DYSF):c.4390G>A (p.Asp1464Asn)	DYSF (D1432N +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 665728	NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)	DYSF (L1457F +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 840926	NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met)	DYSF (I1499M +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1387813	NM_001130987.2(DYSF):c.4586A>T (p.Lys1529Met)	DYSF (K1528M +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 2318097	NM_001130987.2(DYSF):c.4613T>C (p.Phe1538Ser)	DYSF (F1485S +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314440	NM_001130987.2(DYSF):c.4622T>C (p.Leu1541Pro)	DYSF (L1520P +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 290095	NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)	DYSF (R1625Q +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2266610	NM_001130987.2(DYSF):c.5040G>T (p.Lys1680Asn)	DYSF (K1641N +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320622	NM_001130987.2(DYSF):c.5261T>G (p.Val1754Gly)	DYSF (V1702G +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 573556	NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)	DYSF (R1756Q +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GConflicting classifications of pathogenicity
Select item 282885	NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)	DYSF (R1720H +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 197566	NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu)	DYSF (Q1758E +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1024849	NM_001130987.2(DYSF):c.5410G>A (p.Val1804Met)	DYSF (V1751M +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 283948	NM_001130987.2(DYSF):c.5450T>G (p.Ile1817Ser)	DYSF (I1778S +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2222257	NM_001130987.2(DYSF):c.5483T>A (p.Leu1828Gln)	DYSF (L1790Q +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197063	NM_001130987.2(DYSF):c.5651T>C (p.Ile1884Thr)	DYSF (I1845T +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2246120	NM_001130987.2(DYSF):c.5753C>T (p.Pro1918Leu)	DYSF (P1896L +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558992	NM_001130987.2(DYSF):c.5777C>A (p.Ala1926Asp)	DYSF (A1894D +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334129	NM_001130987.2(DYSF):c.6154C>G (p.Pro2052Ala)	DYSF (P1999A +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 197967	NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)	DYSF	Single nucleotide variant (synonymous variant)	DYSF-related condition +6 more	GConflicting classifications of pathogenicity
Select item 989561	NM_001130987.2(DYSF):c.6323A>G (p.Asn2108Ser)	DYSF (N2055S +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 76