GNE[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
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)	GNE myopathy +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 +3 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)	not provided +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 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 +2 more	GBenign
Select item 366817	NM_005476.7(GNE):c.*1054C>A	GNE	Single nucleotide variant (3 prime UTR variant)	Sialuria +3 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)	not provided +3 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)	Sialuria +3 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)	GNE myopathy +3 more	GBenign/Likely benign

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