C1850889[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984229	NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)	DYSF (K39* +1 more)	Single nucleotide variant (nonsense)	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 984230	NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)	DYSF (E64* +1 more)	Single nucleotide variant (nonsense)	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 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 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 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 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 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 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 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 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 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 984231	NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)	DYSF (E228* +3 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely 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 94367	NM_001130987.2(DYSF):c.1033+1G>A	DYSF	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
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 1726995	NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)	DYSF	Indel (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 984232	NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)	DYSF (L391* +3 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 984233	NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)	DYSF (Q444* +3 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 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 984234	NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)	DYSF (C507* +7 more)	Single nucleotide variant (nonsense)	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 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 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 984235	NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)	DYSF (W638* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 984236	NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)	DYSF (S648* +7 more)	Single nucleotide variant (nonsense)	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 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 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 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 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 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 983669	NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)	DYSF (K823* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 938081	NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)	DYSF (Y839* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic/Likely pathogenic
Select item 983670	NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)	DYSF (K828* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 983671	NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)	DYSF (S847* +7 more)	Single nucleotide variant (nonsense)	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 983672	NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)	DYSF (E850* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 983673	NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)	DYSF (E852* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 983674	NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)	DYSF (K860* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 94291	NM_001130987.2(DYSF):c.2697+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1 +5 more	GPathogenic/Likely 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 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 983675	NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)	DYSF (C919* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 196022	NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)	DYSF (M968L +7 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +6 more	GConflicting classifications of pathogenicity
Select item 983957	NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)	DYSF (E1004* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely 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 983958	NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)	DYSF (W1011* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +3 more	GPathogenic/Likely 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 983959	NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)	DYSF (W1028* +7 more)	Single nucleotide variant (nonsense)	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 983960	NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)	DYSF (E1049* +7 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 983961	NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)	DYSF (E1053* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +3 more	GPathogenic/Likely 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 983962	NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)	DYSF (K1155* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 983963	NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)	DYSF (W1185* +7 more)	Single nucleotide variant (nonsense)	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 983964	NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)	DYSF (Y1192* +7 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 984121	NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)	DYSF (E1195* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 984122	NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)	DYSF (K1267* +7 more)	Single nucleotide variant (nonsense)	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 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 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 984123	NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)	DYSF (E1440* +7 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +4 more	GPathogenic/Likely 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 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 550017	NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)	DYSF (Y1505C +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +5 more	GConflicting classifications of pathogenicity
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 984124	NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)	DYSF (Q1577* +13 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 984125	NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)	DYSF (C1607* +13 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +3 more	GPathogenic/Likely pathogenic
Select item 984126	NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)	DYSF (G1614* +13 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 984127	NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)	DYSF (Q1668* +13 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely 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 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 984128	NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)	DYSF (Q1694* +13 more)	Single nucleotide variant (nonsense)	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 984245	NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)	DYSF (K1698* +13 more)	Single nucleotide variant (nonsense)	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 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 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 984246	NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)	DYSF (E1713* +13 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 984247	NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)	DYSF (E1717* +13 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 984248	NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)	DYSF (E1720* +13 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 282624	NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)	DYSF (R1768Q +13 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 984249	NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)	DYSF (K1820* +13 more)	Single nucleotide variant (nonsense)	Distal myopathy with anterior tibial onset +2 more	GLikely pathogenic
Select item 984250	NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)	DYSF (K1827* +13 more)	Single nucleotide variant (nonsense)	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 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 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 984251	NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)	DYSF (E1984* +13 more)	Single nucleotide variant (nonsense)	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

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Items: 97