"GeneDx"[submitter] AND "GNE"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 122

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366804	NM_005476.7(GNE):c.*2391C>T	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +3 more	GBenign
Select item 366811	NM_005476.7(GNE):c.*1781G>A	GNE	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 366839	NM_005476.7(GNE):c.*277ATA[1]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +3 more	GLikely benign
Select item 366841	NM_005476.7(GNE):c.*74G>A	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +3 more	GBenign/Likely benign
Select item 6025	NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	GNE (M712T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 194025	NM_005476.7(GNE):c.2086G>T (p.Val696Leu)	GNE (V727L +5 more)	Single nucleotide variant (missense variant)	Inclusion Body Myopathy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 6028	NM_005476.7(GNE):c.2086G>A (p.Val696Met)	GNE (V696M +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1309992	NM_005476.7(GNE):c.2083G>T (p.Asp695Tyr)	GNE (D585Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283051	NM_005476.7(GNE):c.2050C>T (p.Arg684Cys)	GNE (R715C +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +2 more	GUncertain significance
Select item 286153	NM_005476.7(GNE):c.2029C>T (p.His677Tyr)	GNE (H708Y +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3368222	NM_005476.7(GNE):c.1990C>G (p.Leu664Val)	GNE (L554V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450441	NM_005476.7(GNE):c.1978A>G (p.Met660Val)	GNE (M691V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681355	NM_005476.7(GNE):c.1934-201C>T	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219591	NM_005476.7(GNE):c.1933+168A>G	GNE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681354	NM_005476.7(GNE):c.1933+162G>C	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174231	NM_005476.7(GNE):c.1933+98del	GNE	Deletion (intron variant)	not provided	GLikely benign
Select item 284448	NM_005476.7(GNE):c.1908G>A (p.Ala636=)	GNE	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 499322	NM_005476.7(GNE):c.1907C>T (p.Ala636Val)	GNE (A636V +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +3 more	GConflicting classifications of pathogenicity
Select item 6035	NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	GNE (A631V +5 more)	Single nucleotide variant (missense variant)	Sialuria +4 more	GPathogenic
Select item 286172	NM_005476.7(GNE):c.1872G>A (p.Ala624=)	GNE	Single nucleotide variant (synonymous variant)	Inclusion Body Myopathy, Recessive +4 more	GBenign/Likely benign
Select item 286439	NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)	GNE (S646* +5 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 681770	NM_005476.7(GNE):c.1817-81G>C	GNE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1194943	NM_005476.7(GNE):c.1817-213del	GNE	Deletion (intron variant)	not provided	GLikely benign
Select item 286014	NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)	GNE (A631T +5 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GPathogenic/Likely pathogenic
Select item 489077	NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter)	GNE (Y621* +5 more)	Single nucleotide variant (nonsense)	GNE myopathy +2 more	GPathogenic
Select item 95282	NM_005476.7(GNE):c.1770C>T (p.Tyr590=)	GNE	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 3364494	NM_005476.7(GNE):c.1766C>G (p.Ala589Gly)	GNE (A479G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 188882	NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	GNE (I587T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 503710	NM_005476.7(GNE):c.1710TGT[1] (p.Val572del)	GNE (V572del +5 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic/Likely pathogenic
Select item 288664	NM_005476.7(GNE):c.1651A>G (p.Ile551Val)	GNE (I582V +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 681839	NM_005476.7(GNE):c.1634-117A>G	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671733	NM_005476.7(GNE):c.1633+341G>T	GNE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670399	NM_005476.7(GNE):c.1633+237C>T	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681838	NM_005476.7(GNE):c.1633+125G>C	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293368	NM_005476.7(GNE):c.1633+118T>C	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702701	NM_005476.7(GNE):c.1538G>T (p.Trp513Leu)	GNE (W403L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 429564	NM_005476.7(GNE):c.1500_1529delinsA (p.Arg501fs)	GNE (R442fs +4 more)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 288432	NM_005476.7(GNE):c.1509C>G (p.Pro503=)	GNE	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 451929	NM_005476.7(GNE):c.1442G>A (p.Arg481Gln)	GNE (R512Q +4 more)	Single nucleotide variant (missense variant +1 more)	GNE myopathy +2 more	GUncertain significance
Select item 1203461	NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)	GNE (R367C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 500345	NM_005476.7(GNE):c.1412-4G>A	GNE	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 282272	NM_005476.7(GNE):c.1412-5C>T	GNE	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 512203	NM_005476.7(GNE):c.1293T>A (p.Val431=)	GNE	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 681755	NM_005476.7(GNE):c.1282-155C>T	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262349	NM_005476.7(GNE):c.1282-267dup	GNE	Duplication (intron variant)	not provided	GBenign
Select item 1249843	NM_005476.7(GNE):c.1282-281C>T	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671400	NM_005476.7(GNE):c.1282-302G>A	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223092	NM_005476.7(GNE):c.1281+50dup	GNE	Duplication (intron variant)	not provided	GBenign
Select item 257523	NM_005476.7(GNE):c.1281+44G>A	GNE	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1198374	NM_005476.7(GNE):c.1281+27T>C	GNE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 282546	NM_005476.7(GNE):c.1281+6A>T	GNE	Single nucleotide variant (intron variant)	Sialuria +3 more	GConflicting classifications of pathogenicity
Select item 284451	NM_005476.7(GNE):c.1267A>G (p.Ile423Val)	GNE (I454V +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 552288	NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)	GNE (R451* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 681764	NM_005476.7(GNE):c.1251G>A (p.Thr417=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +2 more	GConflicting classifications of pathogenicity
Select item 500300	NM_005476.7(GNE):c.1250C>T (p.Thr417Met)	GNE (T417M +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 284782	NM_005476.7(GNE):c.1245C>T (p.Gly415=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +3 more	GLikely benign
Select item 282274	NM_005476.7(GNE):c.1242T>C (p.Leu414=)	GNE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290219	NM_005476.7(GNE):c.1234G>A (p.Val412Ile)	GNE (V443I +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 388696	NM_005476.7(GNE):c.1233C>T (p.Ala411=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +2 more	GLikely benign
Select item 283278	NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)	GNE (D378Y +4 more)	Single nucleotide variant (missense variant)	Sialuria +3 more	GConflicting classifications of pathogenicity
Select item 1194458	NM_005476.7(GNE):c.1071-175C>A	GNE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262063	NM_005476.7(GNE):c.1070+208dup	GNE	Duplication (intron variant)	not provided	GBenign
Select item 1254962	NM_005476.7(GNE):c.1070+226_1070+227del	GNE	Deletion (intron variant)	not provided	GBenign
Select item 1234469	NM_005476.7(GNE):c.1070+227del	GNE	Deletion (intron variant)	not provided	GBenign
Select item 504432	NM_005476.7(GNE):c.1070+5G>A	GNE	Single nucleotide variant (intron variant)	Sialuria +2 more	GUncertain significance
Select item 673607	NM_005476.7(GNE):c.983-273G>A	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262375	NM_005476.7(GNE):c.982+253del	GNE	Deletion (intron variant)	not provided	GBenign
Select item 1277889	NM_005476.7(GNE):c.982+247T>G	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 283937	NM_005476.7(GNE):c.843C>T (p.His281=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +3 more	GConflicting classifications of pathogenicity
Select item 285652	NM_005476.7(GNE):c.804G>A (p.Lys268=)	GNE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1917860	NM_005476.7(GNE):c.788G>A (p.Arg263Gln)	GNE (R263Q +4 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GUncertain significance
Select item 1218249	NM_005476.7(GNE):c.770-115A>G	GNE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1308372	NM_005476.7(GNE):c.766G>A (p.Ala256Thr)	GNE (A197T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 389835	NM_005476.7(GNE):c.765C>T (p.Asp255=)	GNE	Single nucleotide variant (synonymous variant +1 more)	Sialuria +2 more	GLikely benign
Select item 6030	NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	GNE (R246Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 197184	NM_005476.7(GNE):c.736C>T (p.Arg246Trp)	GNE (R277W +2 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +2 more	GPathogenic/Likely pathogenic
Select item 969149	NM_005476.7(GNE):c.725C>T (p.Ser242Leu)	GNE (S273L +2 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +2 more	GUncertain significance
Select item 2577719	NM_005476.7(GNE):c.724T>A (p.Ser242Thr)	GNE (S183T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 286493	NM_005476.7(GNE):c.711G>C (p.Leu237Phe)	GNE (L268F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 524125	NM_005476.7(GNE):c.694del (p.Met232fs)	GNE (M232fs +2 more)	Deletion (frameshift variant +1 more)	GNE myopathy +2 more	GPathogenic/Likely pathogenic
Select item 218297	NM_005476.7(GNE):c.647T>C (p.Val216Ala)	GNE (V216A +2 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +2 more	GPathogenic/Likely pathogenic
Select item 287949	NM_005476.7(GNE):c.624T>G (p.Asp208Glu)	GNE (D239E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 673606	NM_005476.7(GNE):c.617-260A>C	GNE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673946	NM_005476.7(GNE):c.617-298T>C	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668906	NM_005476.7(GNE):c.616+269T>C	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1389485	NM_005476.7(GNE):c.604C>T (p.Arg202Cys)	GNE (R233C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 196411	NM_005476.7(GNE):c.600C>T (p.Ile200=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +4 more	GBenign
Select item 558623	NM_005476.7(GNE):c.598A>T (p.Ile200Phe)	GNE (I231F +2 more)	Single nucleotide variant (missense variant)	Sialuria +3 more	GConflicting classifications of pathogenicity
Select item 1473998	NM_005476.7(GNE):c.485G>A (p.Arg162His)	GNE (R103H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1810480	NM_005476.7(GNE):c.476G>C (p.Cys159Ser)	GNE (C100S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312788	NM_005476.7(GNE):c.328C>G (p.His110Asp)	GNE (H110D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303134	NM_005476.7(GNE):c.302G>A (p.Arg101His)	GNE (R101H +2 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GConflicting classifications of pathogenicity
Select item 290713	NM_005476.7(GNE):c.211A>T (p.Arg71Trp)	GNE (R102W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 282855	NM_005476.7(GNE):c.165-9C>T	GNE	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257525	NM_005476.7(GNE):c.165-18A>G	GNE	Single nucleotide variant (intron variant)	GNE myopathy +2 more	GLikely benign
Select item 1206556	NM_005476.7(GNE):c.165-78G>A	GNE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681753	NM_005476.7(GNE):c.165-115A>G	GNE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295726	NM_005476.7(GNE):c.165-179del	GNE	Deletion (intron variant)	not provided	GBenign
Select item 1203255	NM_005476.7(GNE):c.165-180_165-179del	GNE	Deletion (intron variant)	not provided	GLikely benign
Select item 1196686	NM_005476.7(GNE):c.165-181_165-179del	GNE	Deletion (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 2