GLE1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 713

<< First< Prev

Page of 8

	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 1217518	NC_000009.12:g.128504533A>G	GLE1, LOC130002710	Single nucleotide variant	not provided	GLikely benign
Select item 1198866	NC_000009.12:g.128504568G>A	GLE1, LOC130002710	Single nucleotide variant	not provided	GLikely benign
Select item 365126	NM_001499.2(GLE1):c.-108C>A	GLE1, LOC130002710	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GUncertain significance
Select item 365127	NM_001003722.2(GLE1):c.-84A>C	GLE1, LOC130002710	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365128	NM_001003722.2(GLE1):c.-81C>T	GLE1, LOC130002710	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 365129	NM_001003722.2(GLE1):c.-51G>A	GLE1	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365130	NM_001003722.2(GLE1):c.-45T>C	GLE1	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 912454	NM_001003722.2(GLE1):c.-34G>A	GLE1	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 285426	NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg)	GLE1 (P2R)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1660166	NM_001003722.2(GLE1):c.6G>A (p.Pro2=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574794	NM_001003722.2(GLE1):c.6G>T (p.Pro2=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717932	NM_001003722.2(GLE1):c.18C>G (p.Arg6=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936913	NM_001003722.2(GLE1):c.31T>C (p.Leu11=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 365131	NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)	GLE1 (D18E)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2920360	NM_001003722.2(GLE1):c.63C>G (p.Arg21=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 913573	NM_001003722.2(GLE1):c.76C>G (p.Arg26Gly)	GLE1 (R26G)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1 +2 more	GUncertain significance
Select item 2834757	NM_001003722.2(GLE1):c.87G>A (p.Leu29=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1362319	NM_001003722.2(GLE1):c.96del (p.Glu33fs)	GLE1 (E33fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2731786	NM_001003722.2(GLE1):c.97G>T (p.Glu33Ter)	GLE1 (E33*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1663139	NM_001003722.2(GLE1):c.99+7G>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977972	NM_001003722.2(GLE1):c.99+10G>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853109	NM_001003722.2(GLE1):c.99+15del	GLE1	Deletion (intron variant)	not provided	GBenign
Select item 2899699	NM_001003722.2(GLE1):c.99+13C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758910	NM_001003722.2(GLE1):c.99+14C>G	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809916	NM_001003722.2(GLE1):c.99+15C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693889	NM_001003722.2(GLE1):c.99+15C>G	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185280	NM_001003722.2(GLE1):c.99+29C>G	GLE1	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GBenign
Select item 1250393	NM_001003722.2(GLE1):c.99+83C>G	GLE1, LOC130002711	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2840148	NM_001003722.2(GLE1):c.100-18C>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955975	NM_001003722.2(GLE1):c.100-16C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801620	NM_001003722.2(GLE1):c.100-10T>G	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1111734	NM_001003722.2(GLE1):c.100-8T>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 619142	NM_001003722.1(GLE1):c.100-7_100-3del	GLE1	Deletion (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome	GPathogenic
Select item 3100135	NM_001003722.2(GLE1):c.100G>A (p.Asp34Asn)	GLE1 (D34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1555180	NM_001003722.2(GLE1):c.102T>C (p.Asp34=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000112	NM_001003722.2(GLE1):c.111A>G (p.Glu37=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997659	NM_001003722.2(GLE1):c.112G>T (p.Glu38Ter)	GLE1 (E38*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2981289	NM_001003722.2(GLE1):c.118_121del (p.Met40fs)	GLE1 (M40fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 702330	NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr)	GLE1 (C39Y)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GLikely benign
Select item 285105	NM_001003722.2(GLE1):c.127C>T (p.Pro43Ser)	GLE1 (P43S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085684	NM_001003722.2(GLE1):c.135A>G (p.Leu45=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697330	NM_001003722.2(GLE1):c.150A>C (p.Gly50=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046980	NM_001003722.2(GLE1):c.150A>T (p.Gly50=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764178	NM_001003722.2(GLE1):c.152G>A (p.Trp51Ter)	GLE1 (W51*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1070597	NM_001003722.2(GLE1):c.153G>A (p.Trp51Ter)	GLE1 (W51*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2758223	NM_001003722.2(GLE1):c.157del (p.Val52_Val53insTer)	GLE1	Deletion (nonsense)	not provided	GPathogenic
Select item 2999612	NM_001003722.2(GLE1):c.162G>A (p.Glu54=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629723	NM_001003722.2(GLE1):c.165C>T (p.His55=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043423	NM_001003722.2(GLE1):c.166G>A (p.Val56Ile)	GLE1 (V56I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1660515	NM_001003722.2(GLE1):c.169C>T (p.Leu57=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2146632	NM_001003722.2(GLE1):c.174C>G (p.Pro58=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553878	NM_001003722.2(GLE1):c.177T>C (p.His59=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 285100	NM_001003722.2(GLE1):c.178A>G (p.Met60Val)	GLE1 (M60V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870512	NM_001003722.2(GLE1):c.192A>G (p.Gln64=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968155	NM_001003722.2(GLE1):c.195T>C (p.Pro65=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667605	NM_001003722.2(GLE1):c.195T>G (p.Pro65=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1074819	NM_001003722.2(GLE1):c.199_202del (p.Ser67fs)	GLE1 (S67fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1547952	NM_001003722.2(GLE1):c.207T>G (p.Thr69=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142975	NM_001003722.2(GLE1):c.210G>A (p.Ser70=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754994	NM_001003722.2(GLE1):c.210G>T (p.Ser70=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715360	NM_001003722.2(GLE1):c.216C>G (p.Ser72=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168296	NM_001003722.2(GLE1):c.222G>A (p.Thr74=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1958086	NM_001003722.2(GLE1):c.225A>C (p.Ser75=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150189	NM_001003722.2(GLE1):c.234C>A (p.Ala78=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552794	NM_001003722.2(GLE1):c.237A>G (p.Leu79=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 951677	NM_001003722.2(GLE1):c.241C>T (p.Gln81Ter)	GLE1 (Q81*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2909163	NM_001003722.2(GLE1):c.255T>C (p.Val85=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985589	NM_001003722.2(GLE1):c.261A>G (p.Lys87=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 705640	NM_001003722.2(GLE1):c.270C>T (p.Asp90=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3281539	NM_001003722.2(GLE1):c.271G>T (p.Ala91Ser)	GLE1 (A91S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 796564	NM_001003722.2(GLE1):c.276C>T (p.Ser92=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807124	NM_001003722.2(GLE1):c.282C>T (p.Ala94=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034195	NM_001003722.2(GLE1):c.294C>G (p.Ala98=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750137	NM_001003722.2(GLE1):c.303A>C (p.Ala101=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015891	NM_001003722.2(GLE1):c.309A>G (p.Pro103=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3100140	NM_001003722.2(GLE1):c.316A>G (p.Thr106Ala)	GLE1 (T106A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1067708	NM_001003722.2(GLE1):c.321+2T>G	GLE1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1640704	NM_001003722.2(GLE1):c.321+8T>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 365132	NM_001003722.2(GLE1):c.321+13T>G	GLE1	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 2733417	NM_001003722.2(GLE1):c.321+16G>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018824	NM_001003722.2(GLE1):c.321+17C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 8