LOC101929270[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 287

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 3245266	NC_000009.11:g.(?_130911805)_(131302617_?)dup	BBLN, CERCAM +43 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 1300367	NM_001003722.2(GLE1):c.1313-83A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876058	NM_001003722.2(GLE1):c.1313-19T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894007	NM_001003722.2(GLE1):c.1313-17C>A	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719617	NM_001003722.2(GLE1):c.1313-12T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723312	NM_001003722.2(GLE1):c.1313-11A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024143	NM_001003722.2(GLE1):c.1313-8A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967183	NM_001003722.2(GLE1):c.1313-7T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992945	NM_001003722.2(GLE1):c.1314C>T (p.Gly438=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706543	NM_001003722.2(GLE1):c.1323G>A (p.Leu441=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245553	NM_001003722.2(GLE1):c.1328A>C (p.Glu443Ala)	GLE1, LOC101929270 (E452A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2766856	NM_001003722.2(GLE1):c.1335del (p.Phe445fs)	GLE1, LOC101929270 (F445fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2827194	NM_001003722.2(GLE1):c.1341G>A (p.Lys447=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997006	NM_001003722.2(GLE1):c.1344C>A (p.Ile448=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015790	NM_001003722.2(GLE1):c.1352del (p.Leu451fs)	LOC101929270, GLE1 (L451fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1106872	NM_001003722.2(GLE1):c.1356C>G (p.Leu452=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378605	NM_001003722.2(GLE1):c.1360_1361delinsTA (p.Gly454Ter)	GLE1, LOC101929270 (G454*)	Indel (nonsense)	not provided	GPathogenic
Select item 1444354	NM_001003722.2(GLE1):c.1372C>T (p.Gln458Ter)	GLE1, LOC101929270 (Q458*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 991330	NM_001003722.2(GLE1):c.1384C>T (p.Arg462Cys)	GLE1, LOC101929270 (R462C)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome	GUncertain significance
Select item 1079649	NM_001003722.2(GLE1):c.1386C>T (p.Arg462=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787630	NM_001003722.2(GLE1):c.1392G>A (p.Val464=)	LOC101929270, GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 289027	NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr)	GLE1, LOC101929270 (S465T)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 914004	NM_001003722.2(GLE1):c.1396G>A (p.Val466Ile)	GLE1, LOC101929270 (V466I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2294355	NM_001003722.2(GLE1):c.1402C>A (p.Leu468Ile)	GLE1, LOC101929270 (L468I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1074199	NM_001003722.2(GLE1):c.1411C>T (p.Gln471Ter)	GLE1, LOC101929270 (Q471*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1603819	NM_001003722.2(GLE1):c.1416G>T (p.Gly472=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209015	NM_001003722.2(GLE1):c.1422C>A (p.Asp474Glu)	GLE1, LOC101929270 (D483E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3100136	NM_001003722.2(GLE1):c.1429C>A (p.Gln477Lys)	GLE1, LOC101929270 (Q477K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 914005	NM_001003722.2(GLE1):c.1431A>G (p.Gln477=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 940435	NM_001003722.2(GLE1):c.1437del (p.Lys479fs)	GLE1, LOC101929270 (K479fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 767556	NM_001003722.2(GLE1):c.1443A>G (p.Ala481=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1148414	NM_001003722.2(GLE1):c.1452T>C (p.Phe484=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834501	NM_001003722.2(GLE1):c.1455+1G>T	GLE1, LOC101929270	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1103851	NM_001003722.2(GLE1):c.1455+8A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862068	NM_001003722.2(GLE1):c.1455+11T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841701	NM_001003722.2(GLE1):c.1455+13G>T	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902218	NM_001003722.2(GLE1):c.1456-20A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983100	NM_001003722.2(GLE1):c.1456-19C>T	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759138	NM_001003722.2(GLE1):c.1456-18C>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902694	NM_001003722.2(GLE1):c.1456-17C>T	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895172	NM_001003722.2(GLE1):c.1456-15C>T	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2726501	NM_001003722.2(GLE1):c.1456-15C>A	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961158	NM_001003722.2(GLE1):c.1456-13T>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896053	NM_001003722.2(GLE1):c.1456-12C>T	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836931	NM_001003722.2(GLE1):c.1456-11T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1597617	NM_001003722.2(GLE1):c.1456-10A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606014	NM_001003722.2(GLE1):c.1456-9T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994196	NM_001003722.2(GLE1):c.1456-4T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1126727	NM_001003722.2(GLE1):c.1464C>G (p.Gly488=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343318	NM_001003722.2(GLE1):c.1465G>A (p.Glu489Lys)	GLE1, LOC101929270 (E489K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2066512	NM_001003722.2(GLE1):c.1470G>A (p.Glu490=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669085	NM_001003722.2(GLE1):c.1476G>A (p.Val492=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1118678	NM_001003722.2(GLE1):c.1479C>T (p.Ala493=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1107609	NM_001003722.2(GLE1):c.1479C>A (p.Ala493=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 914006	NM_001003722.2(GLE1):c.1493C>G (p.Ala498Gly)	GLE1, LOC101929270 (A498G)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 1149352	NM_001003722.2(GLE1):c.1494A>G (p.Ala498=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711570	NM_001003722.2(GLE1):c.1497A>G (p.Ala499=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3281540	NM_001003722.2(GLE1):c.1507G>A (p.Ala503Thr)	GLE1, LOC101929270 (A512T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2085711	NM_001003722.2(GLE1):c.1509A>G (p.Ala503=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 960374	NM_001003722.2(GLE1):c.1512del (p.Val505fs)	GLE1, LOC101929270 (V505fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1104941	NM_001003722.2(GLE1):c.1521C>T (p.Ser507=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034406	NM_001003722.2(GLE1):c.1524G>A (p.Gly508=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1152833	NM_001003722.2(GLE1):c.1539C>T (p.His513=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1073672	NM_001003722.2(GLE1):c.1542_1555del (p.Arg515fs)	GLE1, LOC101929270 (R515fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1084809	NM_001003722.2(GLE1):c.1542C>T (p.Pro514=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080006	NM_001003722.2(GLE1):c.1545A>G (p.Arg515=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717531	NM_001003722.2(GLE1):c.1548G>T (p.Val516=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963655	NM_001003722.2(GLE1):c.1548G>C (p.Val516=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1105875	NM_001003722.2(GLE1):c.1548G>A (p.Val516=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 914007	NM_001003722.2(GLE1):c.1554C>A (p.Asp518Glu)	LOC101929270, GLE1 (D518E)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 3100137	NM_001003722.2(GLE1):c.1556T>G (p.Leu519Arg)	GLE1, LOC101929270 (L528R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3009548	NM_001003722.2(GLE1):c.1563T>C (p.Leu521=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1099733	NM_001003722.2(GLE1):c.1566T>G (p.Ala522=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 520897	NM_001003722.2(GLE1):c.1567C>T (p.His523Tyr)	GLE1, LOC101929270 (H523Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 704456	NM_001003722.2(GLE1):c.1572A>G (p.Leu524=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1152661	NM_001003722.2(GLE1):c.1584T>C (p.Cys528=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734823	NM_001003722.2(GLE1):c.1587T>A (p.Pro529=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033101	NM_001003722.2(GLE1):c.1590C>T (p.Tyr530=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3100138	NM_001003722.2(GLE1):c.1591T>C (p.Ser531Pro)	GLE1, LOC101929270 (S540P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 193820	NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2792165	NM_001003722.2(GLE1):c.1646+7T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849502	NM_001003722.2(GLE1):c.1646+8T>A	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 3