C0342853[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366794	NM_005476.7(GNE):c.2905_2906del	GNE	Deletion (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366795	NM_005476.7(GNE):c.*2877T>C	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366796	NM_005476.7(GNE):c.*2847T>C	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366797	NM_005476.7(GNE):c.*2789G>A	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GBenign/Likely benign
Select item 366798	NM_005476.7(GNE):c.*2766T>C	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +2 more	GUncertain significance
Select item 915006	NM_005476.7(GNE):c.*2709T>C	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 366799	NM_005476.7(GNE):c.*2679G>A	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +2 more	GUncertain significance
Select item 366800	NM_005476.7(GNE):c.*2576A>G	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GLikely benign
Select item 913051	NM_005476.7(GNE):c.*2550G>A	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 913052	NM_005476.7(GNE):c.*2537G>A	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 913053	NM_005476.7(GNE):c.*2453C>A	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +1 more	GUncertain significance
Select item 366801	NM_005476.7(GNE):c.*2448A>G	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 913416	NM_005476.7(GNE):c.*2431A>G	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +1 more	GUncertain significance
Select item 366802	NM_005476.7(GNE):c.*2415T>A	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GConflicting classifications of pathogenicity
Select item 366803	NM_005476.7(GNE):c.*2410G>C	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366804	NM_005476.7(GNE):c.*2391C>T	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +3 more	GBenign
Select item 366805	NM_005476.7(GNE):c.*2269C>T	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GLikely benign
Select item 914530	NM_005476.7(GNE):c.*2245A>T	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +1 more	GUncertain significance
Select item 366806	NM_005476.7(GNE):c.*2211C>G	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GBenign/Likely benign
Select item 366807	NM_005476.7(GNE):c.*2196dup	GNE	Duplication (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GBenign
Select item 915058	NM_005476.7(GNE):c.*2185T>A	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 366808	NM_005476.7(GNE):c.*2156G>C	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GBenign
Select item 366809	NM_005476.7(GNE):c.*2056C>T	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GBenign/Likely benign
Select item 912328	NM_005476.7(GNE):c.*1854C>T	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 366810	NM_005476.7(GNE):c.*1826G>C	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GBenign
Select item 366811	NM_005476.7(GNE):c.*1781G>A	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +3 more	GBenign
Select item 366812	NM_005476.7(GNE):c.*1728C>T	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GConflicting classifications of pathogenicity
Select item 366813	NM_005476.7(GNE):c.*1694G>C	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 913456	NM_005476.7(GNE):c.*1660A>G	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GConflicting classifications of pathogenicity
Select item 366814	NM_005476.7(GNE):c.*1635G>A	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GBenign/Likely benign
Select item 366815	NM_005476.7(GNE):c.*1575C>T	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366816	NM_005476.7(GNE):c.*1204T>C	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GBenign/Likely benign
Select item 913839	NM_005476.7(GNE):c.*1127C>T	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 913840	NM_005476.7(GNE):c.*1068A>T	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GBenign
Select item 366817	NM_005476.7(GNE):c.*1054C>A	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +2 more	GBenign
Select item 913841	NM_005476.7(GNE):c.*1038T>C	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 366821	NM_005476.7(GNE):c.*1012CA[22]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366820	NM_005476.7(GNE):c.*1012CA[16]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366819	NM_005476.7(GNE):c.*1012CA[15]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366818	NM_005476.7(GNE):c.*1012CA[14]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366822	NM_005476.7(GNE):c.*1012CA[10]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366823	NM_005476.7(GNE):c.*1021A>G	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GBenign/Likely benign
Select item 976599	NM_005476.7(GNE):c.*1007G>A	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +1 more	GUncertain significance
Select item 976600	NM_005476.7(GNE):c.*988G>C	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +1 more	GUncertain significance
Select item 366824	NM_005476.7(GNE):c.*937G>A	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +2 more	GBenign/Likely benign
Select item 366825	NM_005476.7(GNE):c.*936C>T	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +2 more	GBenign
Select item 912378	NM_005476.7(GNE):c.*872C>T	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 366829	NM_005476.7(GNE):c.*692AAT[12]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366826	NM_005476.7(GNE):c.*692AAT[13]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366828	NM_005476.7(GNE):c.*692AAT[9]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366827	NM_005476.7(GNE):c.*692AAT[10]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366830	NM_005476.7(GNE):c.*702dup	GNE	Duplication (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366831	NM_005476.7(GNE):c.*694T>A	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366832	NM_005476.7(GNE):c.*693A>T	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366833	NM_005476.7(GNE):c.*691A>T	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 913505	NM_005476.7(GNE):c.*690T>A	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +1 more	GUncertain significance
Select item 913506	NM_005476.7(GNE):c.*663A>G	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 366834	NM_005476.7(GNE):c.*630C>T	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GBenign
Select item 366835	NM_005476.7(GNE):c.*583G>A	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GBenign/Likely benign
Select item 913885	NM_005476.7(GNE):c.*582A>G	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 913886	NM_005476.7(GNE):c.*573G>A	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 366836	NM_005476.7(GNE):c.*554G>A	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366837	NM_005476.7(GNE):c.*513G>A	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 915135	NM_005476.7(GNE):c.*512C>T	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 366838	NM_005476.7(GNE):c.*446C>T	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 912433	NM_005476.7(GNE):c.*292C>G	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
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 912434	NM_005476.7(GNE):c.*252A>C	GNE	Single nucleotide variant (3 prime UTR variant)	GNE myopathy +1 more	GUncertain significance
Select item 366840	NM_005476.7(GNE):c.*208T>C	GNE	Single nucleotide variant (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +2 more	GUncertain significance
Select item 366841	NM_005476.7(GNE):c.*74G>A	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +3 more	GBenign/Likely benign
Select item 366842	NM_005476.7(GNE):c.*30C>G	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +2 more	GLikely benign
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 194025	NM_005476.7(GNE):c.2086G>T (p.Val696Leu)	GNE (V727L +5 more)	Single nucleotide variant (missense variant)	GNE-related condition +4 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-related condition +3 more	GConflicting classifications of pathogenicity
Select item 598682	NM_005476.7(GNE):c.2079C>T (p.Asp693=)	GNE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 284448	NM_005476.7(GNE):c.1908G>A (p.Ala636=)	GNE	Single nucleotide variant (synonymous variant)	GNE-related condition +4 more	GConflicting classifications of pathogenicity
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 366843	NM_005476.7(GNE):c.1816+11del	GNE	Deletion (intron variant)	Sialuria +2 more	GConflicting classifications of pathogenicity
Select item 95282	NM_005476.7(GNE):c.1770C>T (p.Tyr590=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +3 more	GBenign/Likely benign
Select item 859948	NM_005476.7(GNE):c.1767A>G (p.Ala589=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GConflicting classifications of pathogenicity
Select item 581094	NM_005476.7(GNE):c.1639G>T (p.Gly547Cys)	GNE (G547C +5 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GUncertain significance
Select item 913931	NM_005476.7(GNE):c.1482G>A (p.Glu494=)	GNE	Single nucleotide variant (synonymous 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 specified +3 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 915176	NM_005476.7(GNE):c.1281+13C>A	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GUncertain significance
Select item 282546	NM_005476.7(GNE):c.1281+6A>T	GNE	Single nucleotide variant (intron variant)	GNE myopathy +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)	GNE-related condition +5 more	GConflicting classifications of pathogenicity
Select item 681764	NM_005476.7(GNE):c.1251G>A (p.Thr417=)	GNE	Single nucleotide variant (synonymous variant)	GNE-related condition +3 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 283278	NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)	GNE (D378Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 366844	NM_005476.7(GNE):c.769+4A>G	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GConflicting classifications of pathogenicity
Select item 913581	NM_005476.7(GNE):c.753T>C (p.Phe251=)	GNE	Single nucleotide variant (synonymous variant +1 more)	Sialuria +1 more	GConflicting classifications of pathogenicity
Select item 196411	NM_005476.7(GNE):c.600C>T (p.Ile200=)	GNE	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 913582	NM_005476.7(GNE):c.530G>A (p.Arg177His)	GNE (R177H +2 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GConflicting classifications of pathogenicity
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 366845	NM_005476.7(GNE):c.315T>C (p.Asp105=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +2 more	GConflicting classifications of pathogenicity
Select item 282855	NM_005476.7(GNE):c.165-9C>T	GNE	Single nucleotide variant (intron variant)	GNE-related condition +3 more	GConflicting classifications of pathogenicity
Select item 195244	NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)	GNE (R27*)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913969	NM_005476.7(GNE):c.-51C>T	GNE, LOC130001749	Single nucleotide variant (5 prime UTR variant +1 more)	Sialuria +1 more	GUncertain significance
Select item 366846	NM_005476.7(GNE):c.-65G>A	GNE, LOC130001749	Single nucleotide variant (5 prime UTR variant +1 more)	Sialuria +2 more	GBenign/Likely benign

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