ZBBX[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	LOC129389166, LOC129389167 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 2544858	NM_001199201.2(ZBBX):c.2457G>T (p.Glu819Asp)	ZBBX (E751D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384764	NM_001199201.2(ZBBX):c.2362G>C (p.Val788Leu)	ZBBX (V749L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318423	NM_001199201.2(ZBBX):c.2323A>G (p.Ile775Val)	ZBBX (I707V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268934	NM_001199201.2(ZBBX):c.2315C>T (p.Ser772Leu)	ZBBX (S704L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2654265	NM_001199201.2(ZBBX):c.2313A>G (p.Gln771=)	ZBBX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384467	NM_001199201.2(ZBBX):c.2264A>G (p.Glu755Gly)	ZBBX (E687G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 150634	GRCh38/hg38 3q26.1(chr3:167281403-167554689)x1	LINC01327, SERPINI2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2388422	NM_001199201.2(ZBBX):c.2001G>T (p.Gln667His)	ZBBX (Q628H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321300	NM_001199201.2(ZBBX):c.1929T>A (p.Asn643Lys)	ZBBX (N643K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338332	NM_001199201.2(ZBBX):c.1880A>G (p.Glu627Gly)	ZBBX (E627G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2215174	NM_001199201.2(ZBBX):c.1804A>G (p.Thr602Ala)	ZBBX (T573A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268048	NM_001199201.2(ZBBX):c.1604G>T (p.Arg535Ile)	ZBBX (R506I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2358342	NM_001199201.2(ZBBX):c.1580A>C (p.Glu527Ala)	ZBBX (E498A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540185	NM_001199201.2(ZBBX):c.1570G>A (p.Val524Ile)	ZBBX (V495I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2403237	NM_001199201.2(ZBBX):c.1450G>A (p.Val484Met)	ZBBX (V455M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484369	NM_001199201.2(ZBBX):c.1313A>G (p.Tyr438Cys)	ZBBX (Y409C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494906	NM_001199201.2(ZBBX):c.1310C>T (p.Pro437Leu)	ZBBX (P437L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2311369	NM_001199201.2(ZBBX):c.1179A>G (p.Ile393Met)	ZBBX (I364M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347361	NM_001199201.2(ZBBX):c.1112A>G (p.Gln371Arg)	ZBBX (Q371R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719484	NM_001199201.2(ZBBX):c.1078G>A (p.Asp360Asn)	ZBBX (D331N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718430	NM_001199201.2(ZBBX):c.1015C>T (p.Pro339Ser)	ZBBX (P339S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2304356	NM_001199201.2(ZBBX):c.947C>T (p.Ser316Phe)	ZBBX (S316F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393355	NM_001199201.2(ZBBX):c.924T>G (p.Ile308Met)	ZBBX (I308M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308233	NM_001199201.2(ZBBX):c.881A>G (p.Glu294Gly)	ZBBX (E294G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211347	NM_001199201.2(ZBBX):c.880G>A (p.Glu294Lys)	ZBBX (E265K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718431	NM_001199201.2(ZBBX):c.851C>T (p.Ala284Val)	ZBBX (A255V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2539686	NM_001199201.2(ZBBX):c.841A>G (p.Asn281Asp)	ZBBX (N252D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455543	NM_001199201.2(ZBBX):c.831C>G (p.Asn277Lys)	ZBBX (N277K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246566	NM_001199201.2(ZBBX):c.802C>G (p.Gln268Glu)	ZBBX (Q268E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400568	NM_001199201.2(ZBBX):c.761A>G (p.Asp254Gly)	ZBBX (D225G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250481	NM_001199201.2(ZBBX):c.718C>T (p.Arg240Cys)	ZBBX (R240C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2522232	NM_001199201.2(ZBBX):c.653C>T (p.Pro218Leu)	ZBBX (P218L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460086	NM_001199201.2(ZBBX):c.439C>T (p.Leu147Phe)	ZBBX (L118F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588044	NM_001199201.2(ZBBX):c.416A>G (p.Asn139Ser)	ZBBX (N110S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225380	NM_001199201.2(ZBBX):c.384G>C (p.Lys128Asn)	ZBBX (K128N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236651	NM_001199201.2(ZBBX):c.226G>C (p.Val76Leu)	ZBBX (V76L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273392	NM_001199201.2(ZBBX):c.190G>A (p.Glu64Lys)	ZBBX (E64K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371833	NM_001199201.2(ZBBX):c.86G>A (p.Arg29Gln)	ZBBX (R29Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024629	GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)x1	PDCD10, SERPINI1 +7 more	Copy number loss	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527053	GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)	BCHE, GOLIM4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 980547	GRCh37/hg19 3q26.1(chr3:166831213-167390123)x1	SERPINI2, ZBBX +1 more	Copy number loss	not provided	GUncertain significance
Select item 814494	GRCh37/hg19 3q26.1(chr3:166902027-167019204)x1	ZBBX	Copy number loss	not provided	GUncertain significance
Select item 686844	GRCh37/hg19 3q26.1-26.2(chr3:165603872-168796960)x1	GOLIM4, PDCD10 +4 more	Copy number loss	not provided	GPathogenic
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
Select item 395532	GRCh37/hg19 3q26.1(chr3:163657369-167073454)x1	BCHE, SI +2 more	Copy number loss	See cases	GUncertain significance
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 62