LOC130004598[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 583684	NC_000010.10:g.(?_104155697)_(104162153_?)dup	LOC121815964, LOC130004598 +2 more	Duplication	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2092088	NM_001322934.2(NFKB2):c.22-18A>T	LOC130004598, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1537639	NM_001322934.2(NFKB2):c.22-15C>G	LOC130004598, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1624139	NM_001322934.2(NFKB2):c.22-7A>G	LOC130004598, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1517693	NM_001322934.2(NFKB2):c.22G>C (p.Gly8Arg)	LOC130004598, NFKB2 (G8R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1989112	NM_001322934.2(NFKB2):c.27G>A (p.Leu9=)	NFKB2, LOC130004598	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2754038	NM_001322934.2(NFKB2):c.28G>A (p.Asp10Asn)	LOC130004598, NFKB2 (D10N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2787729	NM_001322934.2(NFKB2):c.29A>G (p.Asp10Gly)	LOC130004598, NFKB2 (D10G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2633915	NM_001322934.2(NFKB2):c.34A>G (p.Ile12Val)	LOC130004598, NFKB2 (I12V)	Single nucleotide variant (missense variant)	NFKB2-related disorder	GUncertain significance
Select item 474786	NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys)	LOC130004598, NFKB2 (E14K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GBenign
Select item 744780	NM_001322934.2(NFKB2):c.45T>C (p.Tyr15=)	LOC130004598, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2166209	NM_001322934.2(NFKB2):c.48T>G (p.Asp16Glu)	LOC130004598, NFKB2 (D16E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1139904	NM_001322934.2(NFKB2):c.51T>C (p.Asp17=)	LOC130004598, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1497588	NM_001322934.2(NFKB2):c.62A>G (p.Asn21Ser)	LOC130004598, NFKB2 (N21S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 710749	NM_001322934.2(NFKB2):c.66C>T (p.Ser22=)	LOC130004598, NFKB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign