ClinVar for Gene (Select 84061) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369319	NM_001367916.1(MAGT1):c.907T>C (p.Cys303Arg)	MAGT1 (C303R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3344671	NM_001367916.1(MAGT1):c.530A>T (p.Asn177Ile)	MAGT1 (N177I +1 more)	Single nucleotide variant (missense variant)	MAGT1-related disorder	GUncertain significance
Select item 3292727	NM_001367916.1(MAGT1):c.623G>A (p.Ser208Asn)	MAGT1 (S208N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245427	NC_000023.10:g.(?_77086282)_(77131114_?)dup	MAGT1	Duplication	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely pathogenic
Select item 3245416	NC_000023.10:g.(?_77126285)_(77126442_?)del	MAGT1	Deletion	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GPathogenic
Select item 3244761	NC_000023.10:g.(?_76829695)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 3244519	NC_000023.10:g.(?_76776246)_(77113014_?)dup	ATRX, MAGT1	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244508	NC_000023.10:g.(?_76890065)_(77302067_?)dup	ATP7A, ATRX +3 more	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244497	NC_000023.10:g.(?_76907584)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244475	NC_000023.10:g.(?_76972588)_(77302067_?)del	ATP7A, ATRX +3 more	Deletion	Menkes kinky-hair syndrome +3 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239583	NM_001367916.1(MAGT1):c.685G>A (p.Ala229Thr)	MAGT1 (A229T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065989	NM_001367916.1(MAGT1):c.826+1G>A	MAGT1	Single nucleotide variant (splice donor variant)	Developmental disorder	GUncertain significance
Select item 3062549	GRCh37/hg19 Xq21.1(chrX:77145900-77174083)	ATP7A, COX7B +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3006964	NM_001367916.1(MAGT1):c.888T>C (p.Ile296=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2985873	NM_001367916.1(MAGT1):c.901+8A>G	MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2985576	NM_001367916.1(MAGT1):c.755G>A (p.Gly252Glu)	MAGT1 (G252E +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2980083	NM_001367916.1(MAGT1):c.514G>A (p.Asp172Asn)	MAGT1 (D204N +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2974785	NM_001367916.1(MAGT1):c.896G>A (p.Arg299Gln)	MAGT1 (R299Q +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2965346	NM_001367916.1(MAGT1):c.574T>C (p.Leu192=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GBenign
Select item 2964866	NM_001367916.1(MAGT1):c.224T>C (p.Ile75Thr)	MAGT1 (I107T +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2918067	NM_001367916.1(MAGT1):c.184C>T (p.Arg62Cys)	MAGT1 (R62C +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2914987	NM_001367916.1(MAGT1):c.45G>A (p.Val15=)	LOC130068460, MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2905413	NM_001367916.1(MAGT1):c.-13G>A	LOC130068460, MAGT1	Single nucleotide variant (5 prime UTR variant +1 more)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2903409	NM_001367916.1(MAGT1):c.272+17C>T	MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2900369	NM_001367916.1(MAGT1):c.-1C>T	LOC130068460, MAGT1	Single nucleotide variant (5 prime UTR variant +1 more)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GBenign
Select item 2886413	NM_001367916.1(MAGT1):c.827-16A>G	MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GBenign
Select item 2876963	NM_001367916.1(MAGT1):c.949A>G (p.Met317Val)	MAGT1 (M317V +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2875348	NM_001367916.1(MAGT1):c.216C>T (p.Tyr72=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2864961	NM_001367916.1(MAGT1):c.762+1G>A	MAGT1	Single nucleotide variant (splice donor variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely pathogenic
Select item 2845948	NM_001367916.1(MAGT1):c.826+18G>A	MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2844435	NM_001367916.1(MAGT1):c.607_610del (p.Val203fs)	MAGT1 (V203fs +1 more)	Deletion (frameshift variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GPathogenic
Select item 2843854	NM_001367916.1(MAGT1):c.780C>A (p.Ser260Arg)	MAGT1 (S292R +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2832174	NM_001367916.1(MAGT1):c.563G>T (p.Gly188Val)	MAGT1 (G220V +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2826775	NM_001367916.1(MAGT1):c.133A>T (p.Met45Leu)	MAGT1 (M45L +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2814483	NM_001367916.1(MAGT1):c.387G>A (p.Gln129=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2808207	NM_001367916.1(MAGT1):c.462T>A (p.Tyr154Ter)	MAGT1 (Y186* +1 more)	Single nucleotide variant (nonsense)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GPathogenic
Select item 2802298	NM_001367916.1(MAGT1):c.763-18_763-17del	MAGT1	Deletion (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2800238	NM_001367916.1(MAGT1):c.16C>A (p.Arg6=)	LOC130068460, MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2792187	NM_001367916.1(MAGT1):c.945T>C (p.Ser315=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2791120	NM_001367916.1(MAGT1):c.279T>C (p.Ala93=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2782795	NM_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)	LOC130068460, MAGT1 (A49T +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +2 more	GConflicting classifications of pathogenicity
Select item 2781803	NM_001367916.1(MAGT1):c.532-20T>G	MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2778664	NM_001367916.1(MAGT1):c.633A>G (p.Glu211=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2773097	NM_001367916.1(MAGT1):c.405A>G (p.Ser135=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2772537	NM_001367916.1(MAGT1):c.-2A>T	LOC130068460, MAGT1 (N32I)	Single nucleotide variant (5 prime UTR variant +1 more)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2767006	NM_001367916.1(MAGT1):c.901+11T>G	MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2765352	NM_001367916.1(MAGT1):c.628A>G (p.Met210Val)	MAGT1 (M210V +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +1 more	GConflicting classifications of pathogenicity
Select item 2762423	NM_001367916.1(MAGT1):c.-21A>G	LOC130068460, MAGT1 (I26V)	Single nucleotide variant (5 prime UTR variant +1 more)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2751126	NM_001367916.1(MAGT1):c.18G>T (p.Arg6=)	LOC130068460, MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2746535	NM_032121.5(MAGT1):c.64A>C (p.Lys22Gln)	MAGT1 (K22Q)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2739586	NM_001367916.1(MAGT1):c.702A>G (p.Gln234=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GBenign
Select item 2737612	NM_001367916.1(MAGT1):c.825T>C (p.Phe275=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2733736	NM_001367916.1(MAGT1):c.1A>G (p.Met1Val)	LOC130068460, MAGT1 (M33V +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2705029	NM_001367916.1(MAGT1):c.756A>G (p.Gly252=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2692875	NM_001367916.1(MAGT1):c.85G>C (p.Ala29Pro)	LOC130068460, MAGT1 (A29P +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2685711	GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	ABCB7, APOOL +39 more	Copy number loss	not provided	GPathogenic
Select item 2684995	GRCh37/hg19 Xq21.1(chrX:76904751-77314965)x3	ATP7A, ATRX +3 more	Copy number gain	not provided	GUncertain significance
Select item 2683593	NM_032121.5(MAGT1):c.52C>A (p.Pro18Thr)	MAGT1 (P18T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660958	NM_001367916.1(MAGT1):c.426T>C (p.Phe142=)	MAGT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2633756	NM_001367916.1(MAGT1):c.672+5G>A	MAGT1	Single nucleotide variant (intron variant)	MAGT1-related disorder	GUncertain significance
Select item 2582378	NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)	MAGT1 (I131M +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +1 more	GUncertain significance
Select item 2579636	NM_001367916.1(MAGT1):c.599G>T (p.Gly200Val)	MAGT1 (G200V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2579367	NM_001367916.1(MAGT1):c.70G>T (p.Val24Phe)	LOC130068460, MAGT1 (V24F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572514	NM_001367916.1(MAGT1):c.468dup (p.Gln157fs)	MAGT1 (Q157fs +1 more)	Duplication (frameshift variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely pathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2506521	NM_001367916.1(MAGT1):c.738dup (p.Lys247Ter)	MAGT1 (K247* +1 more)	Duplication (nonsense)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely pathogenic
Select item 2473662	NM_001367916.1(MAGT1):c.545G>T (p.Arg182Ile)	MAGT1 (R214I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470805	NM_001367916.1(MAGT1):c.226G>A (p.Val76Ile)	MAGT1 (V76I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443168	NM_001367916.1(MAGT1):c.397A>G (p.Met133Val)	MAGT1 (M133V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433627	NM_001367916.1(MAGT1):c.857T>C (p.Leu286Ser)	MAGT1 (L286S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433626	NM_032121.5(MAGT1):c.52C>T (p.Pro18Ser)	MAGT1 (P18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433625	NM_001367916.1(MAGT1):c.87C>G (p.Ala29=)	LOC130068460, MAGT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2427021	NC_000023.10:g.(?_76972588)_(77084752_?)dup	ATRX, MAGT1	Duplication	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2427020	NC_000023.10:g.(?_77084717)_(77096837_?)del	MAGT1	Deletion	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2427019	NC_000023.10:g.(?_77086282)_(77086412_?)del	MAGT1	Deletion	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2427018	NC_000023.10:g.(?_77084697)_(77268629_?)del	ATP7A, COX7B +2 more	Deletion	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GPathogenic
Select item 2427017	NC_000023.10:g.(?_76763829)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2422244	NC_000023.10:g.(?_76888675)_(77264780_?)dup	ATP7A, ATRX +3 more	Duplication	X-linked distal spinal muscular atrophy type 3 +3 more	GUncertain significance
Select item 2422243	NC_000023.10:g.(?_77150786)_(77289339_?)dup	ATP7A, COX7B +2 more	Duplication	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2415317	NM_001367916.1(MAGT1):c.762+16G>A	MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2301082	NM_001367916.1(MAGT1):c.829G>A (p.Gly277Ser)	MAGT1 (G277S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295467	NM_001367916.1(MAGT1):c.508A>C (p.Ile170Leu)	MAGT1 (I202L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242604	NM_032121.5(MAGT1):c.15G>C (p.Lys5Asn)	MAGT1 (K5N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200911	NM_001367916.1(MAGT1):c.60C>T (p.Ile20=)	LOC130068460, MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2200333	NM_001367916.1(MAGT1):c.379G>A (p.Val127Ile)	MAGT1 (V127I +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2194922	NM_001367916.1(MAGT1):c.185G>A (p.Arg62His)	MAGT1 (R62H +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2189382	NM_001367916.1(MAGT1):c.530A>G (p.Asn177Ser)	MAGT1 (N209S +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2184645	NM_001367916.1(MAGT1):c.904A>G (p.Met302Val)	MAGT1 (M334V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2175841	NM_001367916.1(MAGT1):c.764A>G (p.Asn255Ser)	MAGT1 (N255S +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2172332	NM_001367916.1(MAGT1):c.273-18G>A	MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GBenign
Select item 2166515	NM_001367916.1(MAGT1):c.476G>A (p.Arg159Gln)	MAGT1 (R159Q +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2159316	NM_001367916.1(MAGT1):c.411A>G (p.Pro137=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2131120	NM_001367916.1(MAGT1):c.102+8C>T	LOC130068460, MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 2120336	NM_001367916.1(MAGT1):c.751_752dup (p.Gly252fs)	MAGT1 (G284fs +1 more)	Microsatellite (frameshift variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GPathogenic

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