Full data view for gene DNAJC21

Information The variants shown are described using the NM_194283.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-4596dup r.(?) p.(=) Unknown - benign g.34925329dup - BRIX1(NM_018321.4):c.793-2dupA, TTC23L(NR_169876.1):n.1681-2dupA - BRIX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97+5G>A r.spl? p.? Unknown - likely benign g.34930026G>A - DNAJC21(NM_194283.4):c.97+5G>A - BRIX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97+12T>G r.(=) p.(=) Unknown - benign g.34930033T>G - DNAJC21(NM_001012339.3):c.97+12T>G - BRIX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192-9G>C r.(=) p.(=) Unknown - likely benign g.34935806G>C - DNAJC21(NM_194283.3):c.192-9G>C - DNAJC21_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.253A>G r.(?) p.(Ser85Gly) Unknown - likely benign g.34935876A>G - DNAJC21(NM_001012339.3):c.253A>G (p.S85G) - DNAJC21_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.316-8T>G r.(=) p.(=) Unknown - likely benign g.34936241T>G g.34936136T>G DNAJC21(NM_194283.3):c.316-8T>G, DNAJC21(NM_194283.4):c.316-8T>G - DNAJC21_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.316-8T>G r.(=) p.(=) Unknown - likely benign g.34936241T>G - DNAJC21(NM_194283.3):c.316-8T>G, DNAJC21(NM_194283.4):c.316-8T>G - DNAJC21_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.326C>T r.(?) p.(Thr109Met) Unknown - VUS g.34936259C>T - DNAJC21(NM_001012339.2):c.326C>T (p.(Thr109Met)) - DNAJC21_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.337A>T r.(?) p.(Asn113Tyr) Unknown - VUS g.34936270A>T - DNAJC21(NM_194283.3):c.337A>T (p.N113Y) - DNAJC21_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.345del r.(?) p.(Phe115LeufsTer3) Unknown - pathogenic g.34936278del g.34936173del DNAJC21(NM_194283.4):c.345delT (p.F115Lfs*3) - DNAJC21_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.346G>T r.(?) p.(Glu116*) Unknown - likely pathogenic g.34936279G>T - DNAJC21(NM_001012339.3):c.346G>T (p.(Glu116*)) - DNAJC21_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.485dup r.(?) p.(Asn163GlufsTer9) Unknown - pathogenic g.34937477dup - - - DNAJC21_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.554A>G r.(?) p.(Glu185Gly) Unknown - VUS g.34937546A>G - DNAJC21(NM_001012339.3):c.554A>G (p.(Glu185Gly)) - DNAJC21_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.632G>A r.(?) p.(Arg211His) Unknown - VUS g.34937624G>A g.34937519G>A DNAJC21(NM_194283.3):c.632G>A (p.R211H) - DNAJC21_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.652C>T r.(?) p.(Gln218*) Unknown - VUS g.34937644C>T - DNAJC21(NM_001012339.3):c.652C>T (p.(Gln218*)) - DNAJC21_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.824A>G r.(?) p.(Tyr275Cys) Unknown - VUS g.34939043A>G - DNAJC21(NM_194283.3):c.824A>G (p.Y275C) - DNAJC21_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.936_938del r.(?) p.(Asp313del) Unknown - VUS g.34941241_34941243del - DNAJC21(NM_001012339.3):c.936_938del (p.(Asp313del)) - DNAJC21_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.944A>T r.(?) p.(Tyr315Phe) Unknown - VUS g.34941249A>T - DNAJC21(NM_001012339.3):c.944A>T (p.(Tyr315Phe)) - DNAJC21_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.983C>A r.(?) p.(Ala328Asp) Unknown - VUS g.34941288C>A - DNAJC21(NM_194283.3):c.983C>A (p.A328D) - DNAJC21_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1005_1007del r.(?) p.(Lys337del) Unknown - VUS g.34944993_34944995del - DNAJC21(NM_194283.3):c.1005_1007delAAA (p.K337del) - DNAJC21_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown - VUS g.34945004G>A - DNAJC21(NM_001012339.3):c.1016G>A (p.R339Q), DNAJC21(NM_194283.3):c.1016G>A (p.R339Q) - DNAJC21_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown - VUS g.34945004G>A - DNAJC21(NM_001012339.3):c.1016G>A (p.R339Q), DNAJC21(NM_194283.3):c.1016G>A (p.R339Q) - DNAJC21_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016G>C r.(?) p.(Arg339Pro) Unknown - VUS g.34945004G>C - DNAJC21(NM_194283.3):c.1016G>C (p.R339P) - DNAJC21_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1024G>A r.(?) p.(Val342Met) Unknown - likely benign g.34945012G>A g.34944907G>A DNAJC21(NM_001012339.2):c.1024G>A (p.(Val342Met)), DNAJC21(NM_001012339.3):c.1024G>A (p.V342M), DNAJC21(NM_194283.3):c.1024G>A (p.V342M) - DNAJC21_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1024G>A r.(?) p.(Val342Met) Unknown - benign g.34945012G>A - DNAJC21(NM_001012339.2):c.1024G>A (p.(Val342Met)), DNAJC21(NM_001012339.3):c.1024G>A (p.V342M), DNAJC21(NM_194283.3):c.1024G>A (p.V342M) - DNAJC21_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1024G>A r.(?) p.(Val342Met) Unknown - likely benign g.34945012G>A - DNAJC21(NM_001012339.2):c.1024G>A (p.(Val342Met)), DNAJC21(NM_001012339.3):c.1024G>A (p.V342M), DNAJC21(NM_194283.3):c.1024G>A (p.V342M) - DNAJC21_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1328A>G r.(?) p.(Asp443Gly) Unknown - likely benign g.34950282A>G g.34950177A>G DNAJC21(NM_194283.3):c.1328A>G (p.D443G), DNAJC21(NM_194283.4):c.1328A>G (p.D443G) - DNAJC21_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1328A>G r.(?) p.(Asp443Gly) Unknown - likely benign g.34950282A>G g.34950177A>G DNAJC21(NM_194283.3):c.1328A>G (p.D443G), DNAJC21(NM_194283.4):c.1328A>G (p.D443G) - DNAJC21_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1331A>C r.(?) p.(Asp444Ala) Unknown - likely benign g.34950285A>C - DNAJC21(NM_001012339.3):c.1196A>C (p.D399A) - DNAJC21_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1442G>C r.(?) p.(Ser481Thr) Unknown - likely benign g.34950396G>C - DNAJC21(NM_194283.3):c.1442G>C (p.S481T) - DNAJC21_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1450G>A r.(?) p.(Glu484Lys) Unknown - likely benign g.34950404G>A - DNAJC21(NM_001012339.3):c.1315G>A (p.E439K), DNAJC21(NM_194283.3):c.1450G>A (p.E484K) - DNAJC21_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1450G>A r.(?) p.(Glu484Lys) Unknown - likely benign g.34950404G>A - DNAJC21(NM_001012339.3):c.1315G>A (p.E439K), DNAJC21(NM_194283.3):c.1450G>A (p.E484K) - DNAJC21_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1493+5_1493+8del r.spl? p.? Unknown - likely benign g.34950452_34950455del g.34950347_34950350del DNAJC21(NM_194283.4):c.1493+5_1493+8delGTCA - DNAJC21_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1503del r.(?) p.(Lys501Asnfs*10) Unknown - VUS g.34954040del g.34953935del 1503delA - DNAJC21_000003 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
./. - c.1503del r.(?) p.(Lys501Asnfs*10) Unknown - VUS g.34954040del g.34953935del 1503delA - DNAJC21_000003 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
./. - c.1503del r.(?) p.(Lys501Asnfs*10) Unknown - VUS g.34954040del g.34953935del 1503delA - DNAJC21_000003 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
+/. - c.1503del r.(?) p.(Lys501AsnfsTer10) Unknown - pathogenic g.34954040del g.34953935del DNAJC21(NM_194283.3):c.1503delA (p.K501Nfs*10) - DNAJC21_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1580T>C r.(?) p.(Ile527Thr) Unknown - likely benign g.34954668T>C - DNAJC21(NM_001012339.3):c.1445T>C (p.I482T) - DNAJC21_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1616G>A r.(?) p.(Arg539Gln) Unknown - VUS g.34954704G>A g.34954599G>A DNAJC21(NM_194283.3):c.1616G>A (p.R539Q) - DNAJC21_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1618A>C r.(?) p.(Asn540His) Unknown - VUS g.34954706A>C - DNAJC21(NM_001012339.3):c.1483A>C (p.N495H) - DNAJC21_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1629del r.(?) p.(Phe543Leufs*4) Unknown - VUS g.34954717del g.34954612del 1629delT - DNAJC21_000005 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
./. - c.1629del r.(?) p.(Phe543Leufs*4) Unknown - VUS g.34954717del g.34954612del 1629delT - DNAJC21_000005 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
-?/. - c.1682A>G r.(?) p.(Asn561Ser) Unknown - likely benign g.34954770A>G - DNAJC21(NM_001012339.2):c.1547A>G (p.(Asn516Ser)) - DNAJC21_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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