"Revvity Omics, Revvity"[submitter] AND "GNE"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1429599	NM_005476.7(GNE):c.2071G>A (p.Val691Met)	GNE (V632M +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2432225	NM_005476.7(GNE):c.2063T>C (p.Leu688Ser)	GNE (L578S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861130	NM_005476.7(GNE):c.2023T>C (p.Tyr675His)	GNE (Y565H +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +3 more	GPathogenic/Likely pathogenic
Select item 290224	NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)	GNE (G700R +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1346337	NM_005476.7(GNE):c.1982A>G (p.Asn661Ser)	GNE (N602S +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +2 more	GUncertain significance
Select item 2432207	NM_005476.7(GNE):c.1943C>T (p.Ala648Val)	GNE (A538V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 571466	NM_005476.7(GNE):c.1933+3G>A	GNE	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 281593	NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)	GNE (Q670* +5 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 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 2436641	NM_005476.7(GNE):c.1816+2T>C	GNE	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 283229	NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)	GNE (L603F +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2432228	NM_005476.7(GNE):c.1772C>T (p.Ala591Val)	GNE (A481V +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 931306	NM_005476.7(GNE):c.1730C>T (p.Pro577Leu)	GNE (P577L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 6033	NM_005476.7(GNE):c.1714G>C (p.Val572Leu)	GNE (V572L +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2432206	NM_005476.7(GNE):c.1703G>T (p.Gly568Val)	GNE (G458V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391556	NM_005476.7(GNE):c.1703G>C (p.Gly568Ala)	GNE (G494A +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 2432211	NM_005476.7(GNE):c.1634G>A (p.Gly545Glu)	GNE (G435E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689140	NM_005476.7(GNE):c.1633+66G>A	GNE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1064281	NM_005476.7(GNE):c.1622T>C (p.Ile541Thr)	GNE (I572T +4 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +2 more	GUncertain significance
Select item 2432224	NM_005476.7(GNE):c.1616C>T (p.Thr539Ile)	GNE (T429I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1911673	NM_005476.7(GNE):c.1613T>C (p.Val538Ala)	GNE (V538A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 855728	NM_005476.7(GNE):c.1598G>A (p.Gly533Glu)	GNE (G474E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 424619	NM_005476.7(GNE):c.1571C>T (p.Ala524Val)	GNE (A524V +4 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +2 more	GPathogenic/Likely pathogenic
Select item 556674	NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)	GNE (N519S +4 more)	Single nucleotide variant (missense variant +1 more)	GNE myopathy +1 more	GPathogenic/Likely pathogenic
Select item 597383	NM_005476.7(GNE):c.1546A>C (p.Asn516His)	GNE (N547H +4 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +2 more	GUncertain significance
Select item 2432210	NM_005476.7(GNE):c.1541T>C (p.Val514Ala)	GNE (V404A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2195084	NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)	GNE (W403* +4 more)	Single nucleotide variant (nonsense +1 more)	GNE myopathy +2 more	GPathogenic
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 502513	NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)	GNE (G471D +4 more)	Single nucleotide variant (missense variant +1 more)	GNE myopathy +1 more	GConflicting classifications of pathogenicity
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 2689139	NM_005476.7(GNE):c.1352A>C (p.Gln451Pro)	GNE (Q341P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056569	NM_005476.7(GNE):c.1319A>C (p.Lys440Thr)	GNE (K330T +4 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GUncertain significance
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 1513910	NM_005476.7(GNE):c.1264G>A (p.Ala422Thr)	GNE (A312T +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +2 more	GUncertain significance
Select item 2432223	NM_005476.7(GNE):c.1259G>C (p.Arg420Pro)	GNE (R310P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1323024	NM_005476.7(GNE):c.1220dup (p.Ser408fs)	GNE (S298fs +4 more)	Duplication (frameshift variant)	GNE myopathy +2 more	GPathogenic
Select item 2432205	NM_005476.7(GNE):c.1204C>A (p.His402Asn)	GNE (H292N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039080	NM_005476.7(GNE):c.1158A>T (p.Lys386Asn)	GNE (K276N +4 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GUncertain significance
Select item 2432209	NM_005476.7(GNE):c.1134T>A (p.Asp378Glu)	GNE (D268E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324492	NM_005476.7(GNE):c.1132G>C (p.Asp378His)	GNE (D268H +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GLikely pathogenic
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 956608	NM_005476.7(GNE):c.1130del (p.Ile377fs)	GNE (I377fs +4 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 501770	NM_005476.7(GNE):c.1126T>C (p.Ser376Pro)	GNE (S376P +4 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GUncertain significance
Select item 568002	NM_005476.7(GNE):c.1081T>C (p.Tyr361His)	GNE (Y361H +4 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GUncertain significance
Select item 2432216	NM_005476.7(GNE):c.1064A>C (p.Tyr355Ser)	GNE (Y245S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432226	NM_005476.7(GNE):c.1023C>A (p.Asp341Glu)	GNE (D231E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281291	NM_005476.7(GNE):c.1003C>T (p.Arg335Trp)	GNE (R366W +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2432221	NM_005476.7(GNE):c.962G>A (p.Arg321His)	GNE (R211H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 529877	NM_005476.7(GNE):c.952C>G (p.Leu318Val)	GNE (L349V +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +2 more	GUncertain significance
Select item 370285	NM_005476.7(GNE):c.916C>T (p.Arg306Ter)	GNE (R337* +4 more)	Single nucleotide variant (nonsense)	GNE myopathy +2 more	GPathogenic/Likely pathogenic
Select item 498387	NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	GNE (I298T +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +2 more	GPathogenic/Likely pathogenic
Select item 2432218	NM_005476.7(GNE):c.853G>C (p.Asp285His)	GNE (D175H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436630	NM_005476.7(GNE):c.831_833delinsATCCCAA (p.Ala278fs)	GNE (A168fs +4 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 188847	NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	GNE (R277C +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 966732	NM_005476.7(GNE):c.787C>T (p.Arg263Ter)	GNE (R153* +4 more)	Single nucleotide variant (nonsense)	GNE myopathy +2 more	GPathogenic
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 2132707	NM_005476.7(GNE):c.734A>C (p.Lys245Thr)	GNE (K186T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1323025	NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer)	GNE	Deletion (frameshift variant +1 more)	GNE myopathy +2 more	GPathogenic
Select item 2432215	NM_005476.7(GNE):c.688A>G (p.Ile230Val)	GNE (I171V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 370972	NM_005476.7(GNE):c.655C>T (p.Gln219Ter)	GNE (Q250* +2 more)	Single nucleotide variant (nonsense +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 2690615	NM_005476.7(GNE):c.616_616+3del	GNE	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 553323	NM_005476.7(GNE):c.616+1del	GNE	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2440544	NM_005476.7(GNE):c.557A>G (p.Tyr186Cys)	GNE (Y127C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 41233	NM_005476.7(GNE):c.527A>T (p.Asp176Val)	GNE (D207V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2432212	NM_005476.7(GNE):c.490G>A (p.Ala164Thr)	GNE (A105T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 290196	NM_005476.7(GNE):c.484C>T (p.Arg162Cys)	GNE (R193C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2432222	NM_005476.7(GNE):c.469C>T (p.His157Tyr)	GNE (H157Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440536	NM_005476.7(GNE):c.404G>T (p.Gly135Val)	GNE (G135V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 370849	NM_005476.7(GNE):c.385C>T (p.Arg129Ter)	GNE (R160* +2 more)	Single nucleotide variant (nonsense)	GNE myopathy +2 more	GPathogenic/Likely pathogenic
Select item 2432217	NM_005476.7(GNE):c.377T>A (p.Met126Lys)	GNE (M126K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288301	NM_005476.7(GNE):c.317T>C (p.Ile106Thr)	GNE (I137T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498263	NM_005476.7(GNE):c.305T>C (p.Leu102Pro)	GNE (L102P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2432229	NM_005476.7(GNE):c.302G>C (p.Arg101Pro)	GNE (R101P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432219	NM_005476.7(GNE):c.274C>A (p.Leu92Ile)	GNE (L123I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432204	NM_005476.7(GNE):c.234AGA[1] (p.Glu79del)	GNE (E110del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1075047	NM_005476.7(GNE):c.221_222del (p.Thr74fs)	GNE (T105fs +2 more)	Microsatellite (frameshift variant)	GNE myopathy +2 more	GPathogenic
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 2432208	NM_005476.7(GNE):c.182T>C (p.Ile61Thr)	GNE (I2T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285936	NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	GNE (R90* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 2432220	NM_005476.7(GNE):c.118G>A (p.Glu40Lys)	GNE (E40K +1 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +2 more	GUncertain significance
Select item 551266	NM_005476.7(GNE):c.80C>T (p.Pro27Leu)	GNE (P58L +1 more)	Single nucleotide variant (missense variant +1 more)	GNE myopathy +2 more	GPathogenic/Likely pathogenic
Select item 550820	NM_005476.7(GNE):c.31C>T (p.Arg11Trp)	GNE (R11W +1 more)	Single nucleotide variant (missense variant +1 more)	GNE myopathy +2 more	GPathogenic/Likely pathogenic
Select item 286466	NM_005476.7(GNE):c.23G>A (p.Arg8Gln)	GNE (R39Q +1 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +2 more	GUncertain significance
Select item 581426	NM_001128227.3(GNE):c.78A>T (p.Lys26Asn)	GNE (K26N)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2436626	NM_005476.7(GNE):c.-42-1G>T	GNE	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 583405	NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)	GNE (Y6*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 502447	NM_001128227.3(GNE):c.-3G>A	GNE	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance

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Items: 100