DNAJB12[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 3273029	NM_017626.7(DNAJB12):c.967G>A (p.Ala323Thr)	DNAJB12 (A323T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325443	NM_017626.7(DNAJB12):c.947A>C (p.Asn316Thr)	DNAJB12 (N316T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273030	NM_017626.7(DNAJB12):c.940G>A (p.Glu314Lys)	DNAJB12 (E314K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351457	NM_017626.7(DNAJB12):c.880G>A (p.Val294Ile)	DNAJB12 (V294I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492038	NM_017626.7(DNAJB12):c.874G>A (p.Gly292Ser)	DNAJB12 (G292S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3084390	NM_017626.7(DNAJB12):c.838G>A (p.Val280Met)	DNAJB12 (V280M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084389	NM_017626.7(DNAJB12):c.808C>G (p.Pro270Ala)	DNAJB12 (P270A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533757	NM_017626.7(DNAJB12):c.703C>T (p.Arg235Cys)	DNAJB12 (R235C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329997	NM_017626.7(DNAJB12):c.702C>G (p.Asp234Glu)	DNAJB12 (D234E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526759	NM_017626.7(DNAJB12):c.662G>A (p.Ser221Asn)	DNAJB12 (S221N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289051	NM_017626.7(DNAJB12):c.638C>G (p.Pro213Arg)	DNAJB12 (P213R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380574	NM_017626.7(DNAJB12):c.520G>A (p.Gly174Ser)	DNAJB12 (G174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084387	NM_017626.7(DNAJB12):c.242C>T (p.Ser81Leu)	DNAJB12, LOC130004062 (S81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339132	NM_017626.7(DNAJB12):c.188C>T (p.Pro63Leu)	DNAJB12, LOC130004062 (P63L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377923	NM_017626.7(DNAJB12):c.74A>G (p.Asp25Gly)	DNAJB12 (D25G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250865	NM_017626.7(DNAJB12):c.27G>T (p.Glu9Asp)	DNAJB12 (E9D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305305	NM_017626.7(DNAJB12):c.-2C>T	DNAJB12, LOC130004064	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3084388	NM_001002762.2(DNAJB12):c.46G>C (p.Ala16Pro)	DNAJB12, LOC130004064 (A16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685381	GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1	ANAPC16, ASCC1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 33