NFKBIZ[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145303	GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3	CEP97, LOC101929411 +30 more	Copy number gain	See cases	GLikely benign
Select item 2339271	NM_031419.4(NFKBIZ):c.40G>C (p.Glu14Gln)	LOC112841611, NFKBIZ (E14Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235456	NM_031419.4(NFKBIZ):c.173C>T (p.Ser58Leu)	LOC112841611, NFKBIZ (S58L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533474	NM_031419.4(NFKBIZ):c.175G>A (p.Ala59Thr)	LOC112841611, NFKBIZ (A59T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3036671	NM_031419.4(NFKBIZ):c.242C>T (p.Ala81Val)	LOC112841611, NFKBIZ (A81V)	Single nucleotide variant (missense variant +1 more)	NFKBIZ-related condition	GLikely benign
Select item 2391558	NM_031419.4(NFKBIZ):c.245T>C (p.Val82Ala)	LOC112841611, NFKBIZ (V82A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3043308	NM_031419.4(NFKBIZ):c.283C>A (p.Gln95Lys)	LOC112841611, NFKBIZ (Q95K)	Single nucleotide variant (missense variant +1 more)	NFKBIZ-related condition	GLikely benign
Select item 2274043	NM_031419.4(NFKBIZ):c.376C>T (p.His126Tyr)	NFKBIZ (H126Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206000	NM_031419.4(NFKBIZ):c.389A>G (p.His130Arg)	NFKBIZ (H130R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225772	NM_031419.4(NFKBIZ):c.472A>G (p.Thr158Ala)	NFKBIZ (T158A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292711	NM_031419.4(NFKBIZ):c.593A>G (p.Glu198Gly)	NFKBIZ (E98G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395234	NM_031419.4(NFKBIZ):c.727G>A (p.Val243Met)	NFKBIZ (V143M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596613	NM_031419.4(NFKBIZ):c.797C>T (p.Pro266Leu)	NFKBIZ (P166L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994356	NM_031419.4(NFKBIZ):c.824G>C (p.Arg275Thr)	NFKBIZ (R175T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2370348	NM_031419.4(NFKBIZ):c.851C>T (p.Ala284Val)	NFKBIZ (A284V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514382	NM_031419.4(NFKBIZ):c.860A>G (p.Tyr287Cys)	NFKBIZ (Y287C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600091	NM_031419.4(NFKBIZ):c.940C>T (p.Pro314Ser)	NFKBIZ (P214S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2598726	NM_031419.4(NFKBIZ):c.941C>G (p.Pro314Arg)	NFKBIZ (P314R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368905	NM_031419.4(NFKBIZ):c.1022T>C (p.Val341Ala)	NFKBIZ (V241A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2274457	NM_031419.4(NFKBIZ):c.1061C>G (p.Ala354Gly)	NFKBIZ (A354G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273617	NM_031419.4(NFKBIZ):c.1286T>C (p.Leu429Ser)	NFKBIZ (L329S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512988	NM_031419.4(NFKBIZ):c.1774G>A (p.Val592Ile)	NFKBIZ (V592I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529644	NM_031419.4(NFKBIZ):c.1811C>T (p.Ala604Val)	NFKBIZ (A504V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211548	NM_031419.4(NFKBIZ):c.1829G>A (p.Arg610His)	NFKBIZ (R610H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240035	NM_031419.4(NFKBIZ):c.1847C>T (p.Ala616Val)	NFKBIZ (A516V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224500	NM_031419.4(NFKBIZ):c.1919C>G (p.Ser640Cys)	NFKBIZ (S640C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376147	NM_031419.4(NFKBIZ):c.2111G>A (p.Arg704His)	NFKBIZ (R604H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062674	GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1	ABI3BP, ADGRG7 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527033	GRCh37/hg19 3q12.3(chr3:101191611-101938521)	CEP97, NFKBIZ +6 more	Copy number gain	not specified	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 38