GNE[gene] and "single gene"[properties] - 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 +3 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 +3 more	GUncertain significance
Select item 366818	NM_005476.7(GNE):c.*1012CA[14]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +3 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 +3 more	GUncertain significance
Select item 366826	NM_005476.7(GNE):c.*692AAT[13]	GNE	Microsatellite (3 prime UTR variant)	Inclusion Body Myopathy, Recessive +3 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 +3 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 +3 more	GUncertain significance
Select item 913505	NM_005476.7(GNE):c.*690T>A	GNE	Single nucleotide variant (3 prime UTR variant)	not provided +2 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 +3 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 2154858	NM_005476.7(GNE):c.2160G>A (p.Arg720=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +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)	Sialuria +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)	Sialuria +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)	Sialuria +2 more	GPathogenic
Select item 3241708	NM_005476.7(GNE):c.2130_2133del (p.Ser711fs)	GNE (S601fs +5 more)	Deletion (frameshift variant)	GNE myopathy	GLikely pathogenic
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)	GNE myopathy +1 more	GLikely benign
Select item 553431	NM_005476.7(GNE):c.2122G>A (p.Gly708Ser)	GNE (G708S +5 more)	Single nucleotide variant (missense variant)	GNE myopathy	GLikely pathogenic
Select item 289148	NM_005476.7(GNE):c.2120T>C (p.Leu707Pro)	GNE (L738P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Sialuria +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 3241711	NM_005476.7(GNE):c.2112_2117delinsAAATCCAGCTG (p.Ala705fs)	GNE (A595fs +5 more)	Indel (frameshift variant)	GNE myopathy	GLikely pathogenic
Select item 288495	NM_005476.7(GNE):c.2113G>A (p.Ala705Thr)	GNE (A736T +5 more)	Single nucleotide variant (missense variant)	Sialuria +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)	Sialuria +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)	Sialuria +1 more	GUncertain significance
Select item 2311682	NM_005476.7(GNE):c.2101T>G (p.Leu701Val)	GNE (L591V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1126266	NM_005476.7(GNE):c.2097G>C (p.Ser699=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 529878	NM_005476.7(GNE):c.2097G>A (p.Ser699=)	GNE	Single nucleotide variant (synonymous variant)	not provided +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)	Sialuria +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 550171	NM_005476.7(GNE):c.2088GGT[1] (p.Val698del)	GNE (V698del +5 more)	Microsatellite (inframe_deletion)	GNE myopathy	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 +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)	not provided +3 more	GPathogenic/Likely pathogenic

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