MZB1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147882	GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3	CXXC5, CXXC5-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 58117	GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3	DNAJC18, ECSCR +47 more	Copy number gain	See cases	GPathogenic
Select item 2655730	NM_016459.4(MZB1):c.567C>G (p.Leu189=)	MZB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170229	NM_016459.4(MZB1):c.543G>T (p.Lys181Asn)	MZB1 (K181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359446	NM_016459.4(MZB1):c.415C>T (p.Leu139Phe)	MZB1 (L139F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521113	NM_016459.4(MZB1):c.392C>T (p.Thr131Ile)	MZB1 (T131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170217	NM_016459.4(MZB1):c.335G>A (p.Arg112His)	MZB1 (R112H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170215	NM_016459.4(MZB1):c.320T>G (p.Val107Gly)	MZB1 (V107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604026	NM_016459.4(MZB1):c.307G>A (p.Gly103Arg)	MZB1 (G103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298195	NM_016459.4(MZB1):c.290G>A (p.Arg97Gln)	MZB1 (R97Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343336	NM_016459.4(MZB1):c.268G>T (p.Val90Phe)	MZB1 (V90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412169	NM_016459.4(MZB1):c.236G>A (p.Arg79Gln)	MZB1 (R79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170237	NM_016459.4(MZB1):c.98A>C (p.Gln33Pro)	LOC129994763, MZB1 (Q33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494273	NM_016459.4(MZB1):c.74C>T (p.Ala25Val)	LOC129994763, MZB1 (A25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780565	NM_016459.4(MZB1):c.50T>C (p.Ile17Thr)	LOC129994763, MZB1 (I17T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2655731	NM_016459.4(MZB1):c.25C>T (p.Leu9=)	LOC129994763, MZB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246406	NC_000005.9:g.(?_138356840)_(138860503_?)dup	DNAJC18, ECSCR +9 more	Duplication	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2424306	NC_000005.9:g.(?_138266142)_(138861289_?)dup	CTNNA1, DNAJC18 +10 more	Duplication	not provided	GUncertain significance
Select item 1809220	GRCh37/hg19 5q31.2(chr5:137893096-138868605)x3	CTNNA1, DNAJC18 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1340844	GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1	CXXC5, DNAJC18 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1340692	GRCh37/hg19 5q31.2(chr5:138386858-138935115)x3	DNAJC18, ECSCR +9 more	Copy number gain	not provided	GUncertain significance
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	IGIP, IK +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 988915	GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1	CTNNA1, DNAJC18 +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 980740	GRCh37/hg19 5q31.2(chr5:138351402-138893343)x3	DNAJC18, ECSCR +9 more	Copy number gain	not provided	GUncertain significance
Select item 980739	GRCh37/hg19 5q31.2(chr5:138101724-138876953)x3	CTNNA1, DNAJC18 +11 more	Copy number gain	not provided	GUncertain significance
Select item 685436	GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1	CTNNA1, CXXC5 +15 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563110	GRCh37/hg19 5q31.2(chr5:138390162-139160907)x3	CXXC5, DNAJC18 +11 more	Copy number gain	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 42