Related gene-specific medical variations for Gene (Select 3492) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688319	NC_000014.9:g.105852108C>T	IGH, IGHM	Single nucleotide variant	not specified	GBenign
Select item 2688227	NC_000014.9:g.105855558C>T	IGH, IGHM	Single nucleotide variant	not specified	GBenign
Select item 2688041	NC_000014.9:g.105856283G>A	IGH	Single nucleotide variant	not specified	GBenign
Select item 2688015	NC_000014.9:g.105851916A>T	IGH	Single nucleotide variant	not specified	GBenign
Select item 2688004	NC_000014.9:g.105852010C>T	IGHM, IGH	Single nucleotide variant	not specified	GBenign
Select item 2687990	NC_000014.9:g.105855808A>G	IGH, IGHM	Single nucleotide variant	not specified	GBenign
Select item 2644934	NC_000014.9:g.106639380T>C	IGH, IGHV4-61	Single nucleotide variant	not provided	GLikely benign
Select item 2644933	NC_000014.9:g.106627284G>C	IGH, IGHV4-59	Single nucleotide variant	not provided	GLikely benign
Select item 2644932	NC_000014.9:g.106422120G>C	IGH, IGHV4-39	Single nucleotide variant	not provided	GLikely benign
Select item 2644931	NC_000014.9:g.106235357C>G	IGH, IGHV3-21	Single nucleotide variant	not provided	GLikely benign
Select item 2644930	NC_000014.9:g.106165243G>A	IGH, IGHV3-16	Single nucleotide variant	not provided	GLikely benign
Select item 2644929	NC_000014.9:g.105909909A>C	IGH, IGHD1-7	Single nucleotide variant	not provided	GLikely benign
Select item 2644928	NC_000014.9:g.105909907G>A	IGH, IGHD1-7	Single nucleotide variant	not provided	GLikely benign
Select item 2644927	NC_000014.9:g.105644567T>C	IGH, IGHG2	Single nucleotide variant	not provided	GLikely benign
Select item 2644926	NC_000014.9:g.105644563G>C	IGH, IGHG2	Single nucleotide variant	not provided	GLikely benign
Select item 2644925	NC_000014.9:g.105601478G>A	IGH, IGHE	Single nucleotide variant	not provided	GLikely benign
Select item 2644924	NC_000014.9:g.105600505T>C	IGH, IGHE	Single nucleotide variant	not provided	GLikely benign
Select item 2428589	NC_000014.9:g.105855203G>A	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GBenign
Select item 1339539	NC_000014.9:g.105856013G>T	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GLikely pathogenic
Select item 973583	NC_000014.9:g.105855132dup	IGH, IGHM	Duplication	Autosomal recessive agammaglobulinemia 1	GLikely pathogenic
Select item 973003	GRCh37/hg19 14q32.33(chr14:106763887-107208510)x3	IGH	Copy number gain	not provided	Gnot provided
Select item 811340	NC_000014.9:g.105854900G>T	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GLikely benign
Select item 810941	NC_000014.9:g.105855041A>G	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GBenign
Select item 439815	NC_000014.9:g.105856156C>T	IGH, IGHM	Single nucleotide variant	not provided +1 more	GBenign
Select item 439814	NC_000014.9:g.105855988G>C	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GBenign
Select item 427234	NC_000014.9:g.105856087G>A	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 156278	NC_000014.9:g.105854468A>C	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 154551	GRCh38/hg38 14q32.33(chr14:106692695-106713514)x1	IGH	Copy number loss	See cases	GBenign
Select item 154320	GRCh38/hg38 14q32.33(chr14:106692722-106713503)x3	IGH	Copy number gain	See cases	GBenign
Select item 147155	GRCh37/hg19 14q32.33(chr14:106539719-106572277)x0	IGH	Copy number loss	See cases	GBenign
Select item 147007	GRCh37/hg19 14q32.33(chr14:106539719-106559073)x3	IGH	Copy number gain	See cases	GBenign
Select item 147006	GRCh37/hg19 14q32.33(chr14:106539719-106559073)x1	IGH	Copy number loss	See cases	GBenign
Select item 146950	GRCh37/hg19 14q32.33(chr14:106538451-106572278)x3	IGH	Copy number gain	See cases	GBenign
Select item 144524	GRCh38/hg38 14q32.33(chr14:106692722-106704009)x3	IGH	Copy number gain	See cases	GBenign
Select item 14813	NC_000014.9:g.105855107C>T	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 14812	NC_000014.9:g.105855623_105855624del	IGH, IGHM	Deletion	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 14810	NC_000014.9:g.105854405C>T	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 14808	NC_000014.9:g.105643212dup	IGH, IGHG2	Duplication	Decreased circulating IgG2 level	GPathogenic

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Links from Gene

Items: 38