Related gene-specific medical variations for Gene (Select 84061) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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	GUncertain significance
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 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 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 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 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 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 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 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 1928007	NM_001367916.1(MAGT1):c.7G>A (p.Ala3Thr)	LOC130068460, MAGT1 (A35T +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 1899246	NM_001367916.1(MAGT1):c.17G>A (p.Arg6Gln)	LOC130068460, MAGT1 (R6Q +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 1599382	NM_001367916.1(MAGT1):c.-10A>G	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 1599238	NM_001367916.1(MAGT1):c.40A>G (p.Met14Val)	LOC130068460, MAGT1 (M14V +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GBenign
Select item 1569706	NM_001367916.1(MAGT1):c.102+12G>A	LOC130068460, MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 1550804	NM_001367916.1(MAGT1):c.39C>T (p.Thr13=)	LOC130068460, MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 1519135	NM_001367916.1(MAGT1):c.-5C>G	LOC130068460, MAGT1 (A31G)	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 1369602	NM_001367916.1(MAGT1):c.-20T>C	LOC130068460, MAGT1 (I26T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1337451	NM_001367916.1(MAGT1):c.-7A>G	LOC130068460, MAGT1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1319595	NM_001367916.1(MAGT1):c.175G>A (p.Asp59Asn)	MAGT1 (D59N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220530	NM_001367916.1(MAGT1):c.-2dup	LOC130068460, MAGT1 (N32fs)	Duplication (frameshift variant +1 more)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely pathogenic
Select item 1165592	NM_001367916.1(MAGT1):c.-14G>A	LOC130068460, MAGT1 (G28E)	Single nucleotide variant (5 prime UTR variant +1 more)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +3 more	GConflicting classifications of pathogenicity
Select item 1089158	NM_001367916.1(MAGT1):c.-4G>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 1082582	NM_001367916.1(MAGT1):c.32C>G (p.Ser11Cys)	LOC130068460, MAGT1 (S11C +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 1039528	NM_001367916.1(MAGT1):c.89A>G (p.Gln30Arg)	LOC130068460, MAGT1 (Q62R +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GBenign
Select item 996948	NM_001367916.1(MAGT1):c.-3A>G	LOC130068460, MAGT1 (N32D)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation, type ICC +1 more	GConflicting classifications of pathogenicity
Select item 970093	NM_001367916.1(MAGT1):c.-10A>T	LOC130068460, MAGT1 (R29S)	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 969938	NM_001367916.1(MAGT1):c.10C>T (p.Arg4Cys)	LOC130068460, MAGT1 (R36C +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 930698	NM_001367916.1(MAGT1):c.431C>T (p.Ala144Val)	MAGT1 (A144V +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 807885	GRCh37/hg19 Xq21.1(chrX:77084717-77131094)x3	MAGT1	Copy number gain	not provided	GUncertain significance
Select item 778983	NM_001367916.1(MAGT1):c.-16A>G	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 749661	NM_001367916.1(MAGT1):c.17G>C (p.Arg6Pro)	LOC130068460, MAGT1 (R6P +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 644106	NM_001367916.1(MAGT1):c.-5C>T	LOC130068460, MAGT1 (A31V)	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 636626	NM_001367916.1(MAGT1):c.824_825dup (p.Asn276fs)	MAGT1 (N276fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 520979	NM_001367916.1(MAGT1):c.-9G>A	LOC130068460, MAGT1 (G30R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 443981	GRCh37/hg19 Xq21.1(chrX:77059047-77145622)x2	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 443942	GRCh37/hg19 Xq21.1(chrX:77042594-77145641)x3	MAGT1	Copy number gain	See cases	GLikely benign
Select item 443416	GRCh37/hg19 Xq21.1(chrX:77054954-77144366)x2	MAGT1	Copy number gain	See cases	GLikely benign
Select item 443294	GRCh37/hg19 Xq21.1(chrX:77054991-77144366)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 442992	GRCh37/hg19 Xq21.1(chrX:77042599-77142922)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 442328	GRCh37/hg19 Xq21.1(chrX:77054991-77145622)x2	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 441758	GRCh37/hg19 Xq21.1(chrX:77042599-77145622)x2	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 441690	GRCh37/hg19 Xq21.1(chrX:77054955-77142998)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 419298	NM_001367916.1(MAGT1):c.14G>A (p.Trp5Ter)	LOC130068460, MAGT1 (W37* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 155370	GRCh38/hg38 Xq21.1(chrX:77803550-77887501)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 155315	GRCh38/hg38 Xq21.1(chrX:77799457-77890125)x2	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 154292	GRCh38/hg38 Xq21.1(chrX:77787116-77890125)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 153375	GRCh38/hg38 Xq21.1(chrX:77803550-77890125)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 153204	GRCh38/hg38 Xq21.1(chrX:77799457-77890125)x3	MAGT1	Copy number gain	See cases	Gconflicting data from submitters
Select item 145143	GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 145142	GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x2	MAGT1	Copy number gain	See cases	GPathogenic
Select item 144097	GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 96214	NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp)	LOC130068460, MAGT1 (R6W)	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 60335	GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x2	MAGT1	Copy number gain	See cases	GUncertain significance

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Items: 60