ClinVar for Gene (Select 121815964) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3009920	NM_001322934.2(NFKB2):c.669G>C (p.Pro223=)	LOC121815964, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2827867	NM_001322934.2(NFKB2):c.672G>A (p.Gly224=)	LOC121815964, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2745427	NM_001322934.2(NFKB2):c.662-7T>G	LOC121815964, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2628219	NM_001322934.2(NFKB2):c.662-27T>G	LOC121815964, NFKB2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2035937	NM_001322934.2(NFKB2):c.662-14A>C	LOC121815964, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1996426	NM_001322934.2(NFKB2):c.719_720del (p.Val240fs)	LOC121815964, NFKB2 (V240fs)	Microsatellite (frameshift variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1965649	NM_001322934.2(NFKB2):c.710C>T (p.Ala237Val)	LOC121815964, NFKB2 (A237V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1944840	NM_001322934.2(NFKB2):c.720G>A (p.Val240=)	LOC121815964, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1626606	NM_001322934.2(NFKB2):c.729A>C (p.Gly243=)	LOC121815964, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1497284	NM_001322934.2(NFKB2):c.662-5C>T	LOC121815964, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1464360	NM_001322934.2(NFKB2):c.722G>A (p.Arg241Gln)	LOC121815964, NFKB2 (R241Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1435511	NM_001322934.2(NFKB2):c.736G>A (p.Val246Ile)	LOC121815964, NFKB2 (V246I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1022376	NM_001322934.2(NFKB2):c.673dup (p.Ala225fs)	LOC121815964, NFKB2 (A225fs)	Duplication (frameshift variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1006763	NM_001322934.2(NFKB2):c.662A>G (p.Lys221Arg)	LOC121815964, NFKB2 (K221R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 864159	NM_001322934.2(NFKB2):c.742C>G (p.Leu248Val)	LOC121815964, NFKB2 (L248V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 741246	NM_001322934.2(NFKB2):c.669G>A (p.Pro223=)	LOC121815964, NFKB2	Single nucleotide variant (synonymous variant)	NFKB2-related condition +1 more	GLikely benign
Select item 583684	NC_000010.10:g.(?_104155697)_(104162153_?)dup	LOC121815964, LOC130004598 +2 more	Duplication	Immunodeficiency, common variable, 10	GUncertain significance
Select item 403232	NM_001322934.2(NFKB2):c.662-11C>T	LOC121815964, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10 +1 more	GBenign
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 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 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22