DNAJB8[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 3084425	NM_153330.6(DNAJB8):c.682T>C (p.Trp228Arg)	DNAJB8 (W228R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084424	NM_153330.6(DNAJB8):c.658G>A (p.Val220Met)	DNAJB8 (V220M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212534	NM_153330.6(DNAJB8):c.617G>A (p.Arg206His)	DNAJB8 (R206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256864	NM_153330.6(DNAJB8):c.586A>G (p.Thr196Ala)	DNAJB8 (T196A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257051	NM_153330.6(DNAJB8):c.508G>A (p.Gly170Arg)	DNAJB8 (G170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084423	NM_153330.6(DNAJB8):c.491T>G (p.Phe164Cys)	DNAJB8 (F164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791952	NM_153330.6(DNAJB8):c.457A>C (p.Met153Leu)	DNAJB8 (M153L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3084422	NM_153330.6(DNAJB8):c.428C>G (p.Ala143Gly)	DNAJB8 (A143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273047	NM_153330.6(DNAJB8):c.367C>T (p.Arg123Cys)	DNAJB8 (R123C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322585	NM_153330.6(DNAJB8):c.358A>C (p.Asn120His)	DNAJB8 (N120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296767	NM_153330.6(DNAJB8):c.343T>C (p.Trp115Arg)	DNAJB8 (W115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767931	NM_153330.6(DNAJB8):c.302G>A (p.Arg101Gln)	DNAJB8 (R101Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2351497	NM_153330.6(DNAJB8):c.280C>T (p.Arg94Cys)	DNAJB8 (R94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369272	NM_153330.6(DNAJB8):c.262G>A (p.Asp88Asn)	DNAJB8 (D88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273048	NM_153330.6(DNAJB8):c.242C>T (p.Thr81Met)	DNAJB8 (T81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357372	NM_153330.6(DNAJB8):c.221G>A (p.Arg74Gln)	DNAJB8 (R74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267913	NM_153330.6(DNAJB8):c.202G>A (p.Ala68Thr)	DNAJB8 (A68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084421	NM_153330.6(DNAJB8):c.176C>A (p.Ser59Tyr)	DNAJB8 (S59Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489266	NM_153330.6(DNAJB8):c.172G>A (p.Asp58Asn)	DNAJB8 (D58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084420	NM_153330.6(DNAJB8):c.143T>C (p.Leu48Pro)	DNAJB8 (L48P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084418	NM_153330.6(DNAJB8):c.112A>C (p.Asn38His)	DNAJB8 (N38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789713	NM_153330.6(DNAJB8):c.18A>G (p.Glu6=)	DNAJB8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
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 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1375570	NC_000003.11:g.(?_127771396)_(128205874_?)del	DNAJB8, EEFSEC +3 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1340812	GRCh37/hg19 3q21.3(chr3:128163252-128660960)x3	ACAD9, DNAJB8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1183992	Single allele	DNAJB8, GATA2	Deletion	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183987	Single allele	DNAJB8, GATA2	Deletion	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1183986	Single allele	DNAJB8, EEFSEC +4 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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: 41