ClinVar for Gene (Select 2733) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281541	NM_001003722.2(GLE1):c.1780C>G (p.His594Asp)	GLE1, LOC101929270 (H603D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3281539	NM_001003722.2(GLE1):c.271G>T (p.Ala91Ser)	GLE1 (A91S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245300	NC_000009.11:g.(?_131267088)_(131285753_?)del	GLE1	Deletion	not provided	GPathogenic
Select item 3245299	NC_000009.11:g.(?_131267182)_(131283375_?)del	GLE1	Deletion	not provided	GPathogenic
Select item 3245298	NC_000009.11:g.(?_131271135)_(131285115_?)dup	GLE1	Duplication	not provided	GLikely pathogenic
Select item 3245297	NC_000009.11:g.(?_131302534)_(131302637_?)dup	GLE1	Duplication	not provided	GLikely pathogenic
Select item 3245296	NC_000009.11:g.(?_131267085)_(131267203_?)del	GLE1	Deletion	not provided	GPathogenic
Select item 3245266	NC_000009.11:g.(?_130911805)_(131302617_?)dup	LOC130002710, LOC130002711 +43 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	SH3GLB2, SLC25A25 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3238776	NM_001003722.2(GLE1):c.1835A>T (p.Glu612Val)	GLE1, LOC101929270 (E612V +1 more)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1	GUncertain significance
Select item 3235207	NM_001003722.2(GLE1):c.1902G>A (p.Met634Ile)	GLE1, LOC101929270 (M634I +1 more)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome	GUncertain significance
Select item 3100142	NM_001003722.2(GLE1):c.877A>T (p.Ile293Phe)	GLE1 (I293F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100141	NM_001003722.2(GLE1):c.562C>T (p.Arg188Trp)	GLE1 (R188W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 3100135	NM_001003722.2(GLE1):c.100G>A (p.Asp34Asn)	GLE1 (D34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063124	GRCh37/hg19 9q34.11(chr9:131282253-131530589)x1	DYNC2I2, GLE1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3049423	NM_001003722.2(GLE1):c.433-18_433-10del	GLE1	Deletion (intron variant)	GLE1-related disorder	GLikely benign
Select item 3047194	NM_001003722.2(GLE1):c.1881+8A>T	GLE1, LOC101929270	Single nucleotide variant (intron variant)	GLE1-related disorder	GLikely benign
Select item 3039674	NM_001003722.2(GLE1):c.433-11_433-10dup	GLE1	Duplication (intron variant)	GLE1-related disorder	GBenign
Select item 3023584	NM_001003722.2(GLE1):c.433-16A>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021091	NM_001003722.2(GLE1):c.1130-18CT[2]	GLE1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3021013	NM_001003722.2(GLE1):c.433-18A>G	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019241	NM_001003722.2(GLE1):c.1881+12A>G	GLE1, LOC101929270	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
Select item 3015790	NM_001003722.2(GLE1):c.1352del (p.Leu451fs)	GLE1, LOC101929270 (L451fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3015469	NM_001003722.2(GLE1):c.439C>T (p.Leu147=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014970	NM_001003722.2(GLE1):c.2028+1G>A	GLE1, LOC101929270	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3013252	NM_001003722.2(GLE1):c.897+16G>A	GLE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3011637	NM_001003722.2(GLE1):c.582-9T>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3009380	NM_001003722.2(GLE1):c.1776+2T>G	GLE1, LOC101929270	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3007640	NM_001003722.2(GLE1):c.867C>T (p.Leu289=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005504	NM_001003722.2(GLE1):c.1130-11_1130-10del	GLE1	Deletion (intron variant)	not provided	GLikely benign
Select item 3004007	NM_001003722.2(GLE1):c.1312+12G>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003332	NM_001003722.2(GLE1):c.642+11G>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001327	NM_001003722.2(GLE1):c.433-11A>C	GLE1	Single nucleotide variant (intron 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 3000002	NM_001003722.2(GLE1):c.432+11C>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999612	NM_001003722.2(GLE1):c.162G>A (p.Glu54=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998773	NM_001003722.2(GLE1):c.733C>T (p.Leu245=)	GLE1	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 2992439	NM_001003722.2(GLE1):c.1243-12C>G	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991952	NM_001003722.2(GLE1):c.1312+11G>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990840	NM_001003722.2(GLE1):c.643-11C>G	GLE1	Single nucleotide variant (intron 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 2983100	NM_001003722.2(GLE1):c.1456-19C>T	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981456	NM_001003722.2(GLE1):c.2029-11T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981289	NM_001003722.2(GLE1):c.118_121del (p.Met40fs)	GLE1 (M40fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2979567	NM_001003722.2(GLE1):c.1965-1G>C	GLE1, LOC101929270	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2977972	NM_001003722.2(GLE1):c.99+10G>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976881	NM_001003722.2(GLE1):c.351T>A (p.Ser117=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976384	NM_001003722.2(GLE1):c.909C>T (p.Pro303=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969046	NM_001003722.2(GLE1):c.1647-20A>G	GLE1, LOC101929270	Single nucleotide variant (intron 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 2968140	NM_001003722.2(GLE1):c.1308del (p.Ile436fs)	GLE1 (I436fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2967733	NM_001003722.2(GLE1):c.2004C>T (p.Phe668=)	GLE1, LOC101929270	Single nucleotide variant (synonymous 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 2966978	NM_001003722.2(GLE1):c.519T>C (p.Asp173=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966954	NM_001003722.2(GLE1):c.694G>T (p.Glu232Ter)	GLE1 (E232*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2965601	NM_001003722.2(GLE1):c.581+19T>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962161	NM_001003722.2(GLE1):c.1728C>T (p.Leu576=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961469	NM_001003722.2(GLE1):c.432+18_432+19dup	GLE1	Duplication (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 2957145	NM_001003722.2(GLE1):c.483C>T (p.Leu161=)	GLE1	Single nucleotide variant (synonymous 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 2920360	NM_001003722.2(GLE1):c.63C>G (p.Arg21=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920104	NM_001003722.2(GLE1):c.643-2A>G	GLE1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2919369	NM_001003722.2(GLE1):c.507G>A (p.Leu169=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919221	NM_001003722.2(GLE1):c.897+11C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918852	NM_001003722.2(GLE1):c.1129+16G>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917960	NM_001003722.2(GLE1):c.1881+11C>A	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917383	NM_001003722.2(GLE1):c.1964+2T>G	GLE1, LOC101929270 (Y656D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2915942	NM_001003722.2(GLE1):c.996C>T (p.Ala332=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915703	NM_001003722.2(GLE1):c.433-14A>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913208	NM_001003722.2(GLE1):c.1224C>A (p.Thr408=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909163	NM_001003722.2(GLE1):c.255T>C (p.Val85=)	GLE1	Single nucleotide variant (synonymous 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 2902218	NM_001003722.2(GLE1):c.1456-20A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900190	NM_001003722.2(GLE1):c.322-8T>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899699	NM_001003722.2(GLE1):c.99+13C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898138	NM_001003722.2(GLE1):c.898-15C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897168	NM_001003722.2(GLE1):c.898-11C>T	GLE1	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 2895172	NM_001003722.2(GLE1):c.1456-15C>T	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 2891711	NM_001003722.2(GLE1):c.999C>A (p.Cys333Ter)	GLE1 (C333*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2887690	NM_001003722.2(GLE1):c.897+19T>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887385	NM_001003722.2(GLE1):c.1646+14T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886344	NM_001003722.2(GLE1):c.648C>T (p.Leu216=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883553	NM_001003722.2(GLE1):c.433-19A>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878993	NM_001003722.2(GLE1):c.2029-20C>T	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 2872502	NM_001003722.2(GLE1):c.1086G>A (p.Glu362=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870512	NM_001003722.2(GLE1):c.192A>G (p.Gln64=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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