"GeneDx"[submitter] AND "NFKB2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1307390	NM_001322934.2(NFKB2):c.106G>A (p.Asp36Asn)	NFKB2 (D36N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706265	NM_001322934.2(NFKB2):c.146G>C (p.Arg49Thr)	NFKB2 (R49T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10 +1 more	GUncertain significance
Select item 1307692	NM_001322934.2(NFKB2):c.613T>C (p.Phe205Leu)	NFKB2 (F205L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546654	NM_001322934.2(NFKB2):c.781C>T (p.Arg261Trp)	NFKB2 (R261W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310936	NM_001322934.2(NFKB2):c.808T>C (p.Trp270Arg)	NFKB2 (W270R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444701	NM_001322934.2(NFKB2):c.881A>G (p.Tyr294Cys)	NFKB2 (Y294C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620553	NM_001322934.2(NFKB2):c.937C>T (p.Arg313Ter)	NFKB2 (R313*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 452638	NM_001322934.2(NFKB2):c.1061C>T (p.Ser354Phe)	NFKB2 (S354F)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 10 +1 more	GUncertain significance
Select item 1314857	NM_001322934.2(NFKB2):c.1124G>A (p.Ser375Asn)	LOC130004599, NFKB2 (S333N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111635	NM_001322934.2(NFKB2):c.1196C>T (p.Pro399Leu)	NFKB2, LOC130004599 (P357L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1338871	NM_001322934.2(NFKB2):c.1210G>A (p.Gly404Arg)	LOC130004599, NFKB2 (G362R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3253518	NM_001322934.2(NFKB2):c.1346G>T (p.Arg449Leu)	LOC130004599, NFKB2 (R407L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340687	NM_001322934.2(NFKB2):c.1416_1417del (p.Leu473fs)	NFKB2 (L431fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 827730	NM_001322934.2(NFKB2):c.1469+1G>T	NFKB2	Single nucleotide variant (splice donor variant)	Inherited Immunodeficiency Diseases +1 more	GPathogenic
Select item 3363340	NM_001322934.2(NFKB2):c.1586C>T (p.Thr529Met)	NFKB2 (T487M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430410	NM_001322934.2(NFKB2):c.1619C>T (p.Thr540Met)	NFKB2 (T540M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3252868	NM_001322934.2(NFKB2):c.1739C>G (p.Ala580Gly)	NFKB2 (A538G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313472	NM_001322934.2(NFKB2):c.2050A>C (p.Thr684Pro)	NFKB2 (T642P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10 +1 more	GUncertain significance
Select item 508532	NM_001322934.2(NFKB2):c.2067G>A (p.Lys689=)	NFKB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2507155	NM_001322934.2(NFKB2):c.2275A>T (p.Thr759Ser)	NFKB2 (T717S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372570	NM_001322934.2(NFKB2):c.2402G>C (p.Arg801Pro)	NFKB2 (R759P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 65385	NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)	NFKB2, PSD (R853* +1 more)	Single nucleotide variant (nonsense)	not specified +4 more	GPathogenic
Select item 421588	NM_001322934.2(NFKB2):c.2609G>A (p.Ser870Asn)	NFKB2 (S869N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 3360296	NM_001322934.2(NFKB2):c.1427_1447dup (p.Thr482_Ala483insGlyGlnArgHisLeuLeuThr)	NFKB2	Duplication (inframe_insertion)	not provided	GUncertain significance

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Items: 26