"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "GNE"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2154858	NM_005476.7(GNE):c.2160G>A (p.Arg720=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 1613534	NM_005476.7(GNE):c.2151A>G (p.Thr717=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2151555	NM_005476.7(GNE):c.2150C>G (p.Thr717Arg)	GNE (T643R +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2943685	NM_005476.7(GNE):c.2142G>A (p.Leu714=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2014772	NM_005476.7(GNE):c.2142G>T (p.Leu714=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2108109	NM_005476.7(GNE):c.2135del (p.Met712fs)	GNE (M661fs +5 more)	Deletion (frameshift variant)	GNE myopathy +1 more	GPathogenic
Select item 6025	NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	GNE (M712T +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2952479	NM_005476.7(GNE):c.2129C>T (p.Ala710Val)	GNE (A659V +5 more)	Single nucleotide variant (missense variant)	Sialuria +1 more	GUncertain significance
Select item 1110271	NM_005476.7(GNE):c.2127T>C (p.Ala709=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 1592352	NM_005476.7(GNE):c.2119C>T (p.Leu707=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2939337	NM_005476.7(GNE):c.2118G>T (p.Leu706=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 529879	NM_005476.7(GNE):c.2118G>A (p.Leu706=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 288495	NM_005476.7(GNE):c.2113G>A (p.Ala705Thr)	GNE (A736T +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +2 more	GUncertain significance
Select item 529881	NM_005476.7(GNE):c.2112C>T (p.Pro704=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2048449	NM_005476.7(GNE):c.2109C>A (p.Asp703Glu)	GNE (D629E +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2009787	NM_005476.7(GNE):c.2105T>A (p.Val702Asp)	GNE (V628D +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 1126266	NM_005476.7(GNE):c.2097G>C (p.Ser699=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 529878	NM_005476.7(GNE):c.2097G>A (p.Ser699=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +2 more	GConflicting classifications of pathogenicity
Select item 632044	NM_005476.7(GNE):c.2096C>T (p.Ser699Leu)	GNE (S699L +5 more)	Single nucleotide variant (missense variant)	Sialuria +1 more	GConflicting classifications of pathogenicity
Select item 941587	NM_005476.7(GNE):c.2095T>A (p.Ser699Thr)	GNE (S640T +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 951257	NM_005476.7(GNE):c.2093T>C (p.Val698Ala)	GNE (V588A +5 more)	Single nucleotide variant (missense variant)	Sialuria +1 more	GUncertain significance
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)	GNE myopathy +4 more	GPathogenic/Likely pathogenic
Select item 1555991	NM_005476.7(GNE):c.2085T>C (p.Asp695=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 1587088	NM_005476.7(GNE):c.2082G>C (p.Val694=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2055286	NM_005476.7(GNE):c.2080G>A (p.Val694Met)	GNE (V620M +5 more)	Single nucleotide variant (missense variant)	Sialuria +1 more	GUncertain significance
Select item 598682	NM_005476.7(GNE):c.2079C>T (p.Asp693=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +2 more	GConflicting classifications of pathogenicity
Select item 1099981	NM_005476.7(GNE):c.2073G>T (p.Val691=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 1084057	NM_005476.7(GNE):c.2073G>A (p.Val691=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 1429599	NM_005476.7(GNE):c.2071G>A (p.Val691Met)	GNE (V632M +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +2 more	GUncertain significance
Select item 597162	NM_005476.7(GNE):c.2070C>T (p.Ser690=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +2 more	GConflicting classifications of pathogenicity
Select item 1920429	NM_005476.7(GNE):c.2061C>T (p.Ala687=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 733465	NM_005476.7(GNE):c.2061C>G (p.Ala687=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2954041	NM_005476.7(GNE):c.2055G>A (p.Gln685=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2042305	NM_005476.7(GNE):c.2051G>A (p.Arg684His)	GNE (R684H +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 934010	NM_005476.7(GNE):c.2050C>A (p.Arg684Ser)	GNE (R610S +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 283051	NM_005476.7(GNE):c.2050C>T (p.Arg684Cys)	GNE (R715C +5 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GUncertain significance
Select item 566086	NM_005476.7(GNE):c.2044G>A (p.Val682Ile)	GNE (V682I +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 1119474	NM_005476.7(GNE):c.2043C>T (p.Asp681=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 1942269	NM_005476.7(GNE):c.2038A>G (p.Lys680Glu)	GNE (K680E +5 more)	Single nucleotide variant (missense variant)	Sialuria +1 more	GUncertain significance
Select item 2048455	NM_005476.7(GNE):c.2033T>C (p.Ile678Thr)	GNE (I678T +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 286153	NM_005476.7(GNE):c.2029C>T (p.His677Tyr)	GNE (H708Y +5 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GUncertain significance
Select item 2946919	NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)	GNE (Y601* +5 more)	Single nucleotide variant (nonsense)	Sialuria +1 more	GPathogenic
Select item 1581707	NM_005476.7(GNE):c.2025T>C (p.Tyr675=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2134489	NM_005476.7(GNE):c.2024A>G (p.Tyr675Cys)	GNE (Y565C +5 more)	Single nucleotide variant (missense variant)	Sialuria +1 more	GUncertain significance
Select item 861130	NM_005476.7(GNE):c.2023T>C (p.Tyr675His)	GNE (Y565H +5 more)	Single nucleotide variant (missense variant)	Myopathy, autophagic vacuolar, infantile-onset +4 more	GPathogenic/Likely pathogenic
Select item 1068026	NM_005476.7(GNE):c.2005_2011del (p.Gly669fs)	GNE (G559fs +5 more)	Deletion (frameshift variant)	Sialuria +1 more	GPathogenic
Select item 578096	NM_005476.7(GNE):c.2008G>T (p.Val670Phe)	GNE (V670F +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 1926331	NM_005476.7(GNE):c.2007A>T (p.Gly669=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 290224	NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)	GNE (G700R +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +4 more	GConflicting classifications of pathogenicity
Select item 284820	NM_005476.7(GNE):c.2004C>T (p.Ser668=)	GNE	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 498627	NM_005476.7(GNE):c.2003C>T (p.Ser668Phe)	GNE (S668F +5 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GConflicting classifications of pathogenicity
Select item 1674714	NM_005476.7(GNE):c.1998C>T (p.Ile666=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2128738	NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer)	GNE	Deletion (frameshift variant)	Sialuria +1 more	GPathogenic
Select item 1543848	NM_005476.7(GNE):c.1989C>A (p.Ser663=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 1104136	NM_005476.7(GNE):c.1989C>T (p.Ser663=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2948005	NM_005476.7(GNE):c.1985C>T (p.Pro662Leu)	GNE (P588L +5 more)	Single nucleotide variant (missense variant)	Sialuria +1 more	GUncertain significance
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 2940109	NM_005476.7(GNE):c.1973del (p.His658fs)	GNE (H689fs +5 more)	Deletion (frameshift variant)	GNE myopathy +1 more	GPathogenic
Select item 1618050	NM_005476.7(GNE):c.1971C>A (p.Leu657=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2932569	NM_005476.7(GNE):c.1968C>A (p.Ile656=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2951506	NM_005476.7(GNE):c.1965C>T (p.Asn655=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2945219	NM_005476.7(GNE):c.1956G>T (p.Gly652=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 1019654	NM_005476.7(GNE):c.1949G>A (p.Gly650Asp)	GNE (G540D +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 1592623	NM_005476.7(GNE):c.1945T>C (p.Leu649=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 1984236	NM_005476.7(GNE):c.1938A>T (p.Gly646=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GUncertain significance
Select item 1405991	NM_005476.7(GNE):c.1937G>C (p.Gly646Ala)	GNE (G572A +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 1154847	NM_005476.7(GNE):c.1934-4A>G	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2943754	NM_005476.7(GNE):c.1934-6C>T	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 1621565	NM_005476.7(GNE):c.1934-7C>T	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 1583273	NM_005476.7(GNE):c.1934-8C>T	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2924959	NM_005476.7(GNE):c.1934-10C>T	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2954497	NM_005476.7(GNE):c.1934-11T>C	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2937080	NM_005476.7(GNE):c.1934-11T>G	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2923594	NM_005476.7(GNE):c.1934-12G>T	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2935262	NM_005476.7(GNE):c.1934-17T>C	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2949450	NM_005476.7(GNE):c.1933+19G>A	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2931786	NM_005476.7(GNE):c.1933+8_1933+17dup	GNE	Duplication (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2926392	NM_005476.7(GNE):c.1933+13C>T	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2946778	NM_005476.7(GNE):c.1933+12G>A	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2923992	NM_005476.7(GNE):c.1933+11G>C	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 596412	NM_005476.7(GNE):c.1933+8T>C	GNE	Single nucleotide variant (intron variant)	GNE myopathy +2 more	GConflicting classifications of pathogenicity
Select item 1560666	NM_005476.7(GNE):c.1933+7A>G	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 1547894	NM_005476.7(GNE):c.1933+7A>C	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 1160443	NM_005476.7(GNE):c.1933+7A>T	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
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 2951384	NM_005476.7(GNE):c.1933+1G>C	GNE	Single nucleotide variant (splice donor variant)	Sialuria +1 more	GPathogenic
Select item 2021712	NM_005476.7(GNE):c.1926_1927insCGGCCCAGAGCATCCTA (p.Arg643_Thr644insProArgAlaSerTer)	GNE	Insertion (nonsense +1 more)	Sialuria +1 more	GPathogenic
Select item 1373213	NM_005476.7(GNE):c.1921A>G (p.Ile641Val)	GNE (I641V +5 more)	Single nucleotide variant (missense variant)	Sialuria +1 more	GUncertain significance
Select item 281593	NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)	GNE (Q670* +5 more)	Single nucleotide variant (nonsense)	Sialuria +2 more	GPathogenic/Likely pathogenic
Select item 284448	NM_005476.7(GNE):c.1908G>A (p.Ala636=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +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)	Sialuria +3 more	GConflicting classifications of pathogenicity
Select item 2928198	NM_005476.7(GNE):c.1897C>A (p.Leu633Ile)	GNE (L523I +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 1659424	NM_005476.7(GNE):c.1893G>A (p.Ala631=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 6035	NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	GNE (A631V +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colon cancer +4 more	GPathogenic
Select item 6027	NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)	GNE (A631T +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2025924	NM_005476.7(GNE):c.1881C>T (p.Leu627=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2931232	NM_005476.7(GNE):c.1878T>C (p.His626=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2114155	NM_005476.7(GNE):c.1872G>T (p.Ala624=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign

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