Full data view for gene DNAJC3

Information The variants shown are described using the NM_006260.4 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
Legend   How to query  

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     
+/. 5i_12_ c.547-965_*3959{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.96411329_96484075del g.95759075_95831821del - - DNAJC3_000018 - PubMed: Synofzik 2014 - - Germline yes - - - - DNA PCR, SEQ, SEQ-NG - WES NDD Fam2PatII1(66050) PubMed: Synofzik 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Germany - - - - - 2 Johan den Dunnen
+/. 5i_12_ c.547-965_*3959{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.96411329_96484075del g.95759075_95831821del - - DNAJC3_000018 - PubMed: Synofzik 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam2PatII2(66051) PubMed: Synofzik 2014 sister F yes Germany - - - - - 1 Johan den Dunnen
-?/. - c.162T>G r.(?) p.(Ala54=) Unknown - likely benign g.96361560T>G g.95709306T>G DNAJC3(NM_006260.4):c.162T>G (p.A54=), DNAJC3(NM_006260.5):c.162T>G (p.A54=) - DNAJC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162T>G r.(?) p.(Ala54=) Unknown - likely benign g.96361560T>G - DNAJC3(NM_006260.4):c.162T>G (p.A54=), DNAJC3(NM_006260.5):c.162T>G (p.A54=) - DNAJC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206A>G r.(?) p.(Asp69Gly) Unknown - VUS g.96375508A>G - DNAJC3(NM_006260.4):c.206A>G (p.D69G) - DNAJC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207T>A r.(?) p.(Asp69Glu) Both (homozygous) - likely benign g.96375509T>A g.95723255T>A - - DNAJC3_000019 - PubMed: Synofzik 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam PubMed: Synofzik 2014 - - - - - - - - - 1 Johan den Dunnen
?/. - c.272T>G r.(?) p.(Leu91Arg) Unknown - VUS g.96375574T>G - DNAJC3(NM_006260.5):c.272T>G (p.L91R) - DNAJC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297A>G r.(?) p.(Gln99=) Unknown - likely benign g.96375599A>G g.95723345A>G DNAJC3(NM_006260.5):c.297A>G (p.Q99=) - DNAJC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303G>C r.(?) p.(Lys101Asn) Unknown - likely benign g.96375605G>C - DNAJC3(NM_006260.4):c.303G>C (p.(Lys101Asn)) - DNAJC3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Ala106Thr) Unknown - VUS g.96375618G>A g.95723364G>A DNAJC3(NM_006260.5):c.316G>A (p.A106T) - DNAJC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.365A>G r.(?) p.(Asp122Gly) Unknown - VUS g.96377478A>G g.95725224A>G DNAJC3(NM_006260.5):c.365A>G (p.D122G) - DNAJC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.393+18T>G r.(=) p.(=) Unknown - VUS g.96377524T>G - DNAJC3(NM_006260.5):c.393+18T>G - DNAJC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.512C>T r.(?) p.(Thr171Ile) Unknown - VUS g.96410016C>T - DNAJC3(NM_006260.5):c.512C>T (p.T171I) - DNAJC3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.580C>T r.0 p.0 Both (homozygous) - pathogenic (recessive) g.96412327C>T g.95760073C>T - - DNAJC3_000017 - PubMed: Synofzik 2014, PubMed: Yepez 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam1PatII2(61691) PubMed: Synofzik 2014, PubMed: Yepez 2022 2-generation family, 2 affected brothers/1 sister, unaffected heterozygous carrier parents M yes Turkey - - - - - 3 Johan den Dunnen
+/. - c.580C>T r.0 p.0 Both (homozygous) - pathogenic (recessive) g.96412327C>T g.95760073C>T - - DNAJC3_000017 - PubMed: Synofzik 2014, PubMed: Yepez 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam1PatII3(61693) PubMed: Synofzik 2014, PubMed: Yepez 2022 sister F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.580C>T r.0 p.0 Both (homozygous) - pathogenic (recessive) g.96412327C>T g.95760073C>T - - DNAJC3_000017 - PubMed: Synofzik 2014, PubMed: Yepez 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam1PatII4(61695) PubMed: Synofzik 2014, PubMed: Yepez 2022 brother M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.641C>T r.(?) p.(Ala214Val) Parent #1 - VUS g.96412388C>T g.95760134C>T - - DNAJC3_000021 - PubMed: Synofzik 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam PubMed: Synofzik 2014 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.728+17C>T r.(=) p.(=) Unknown - likely benign g.96412492C>T - DNAJC3(NM_006260.5):c.728+17C>T - DNAJC3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.848+10T>C r.(=) p.(=) Unknown - benign g.96413062T>C g.95760808T>C DNAJC3(NM_006260.5):c.848+10T>C - DNAJC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.906T>C r.(?) p.(=) Unknown - likely benign g.96415954T>C - DNAJC3(NM_006260.5):c.906T>C (p.A302=) - DNAJC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.919C>T r.(?) p.(Arg307Cys) Unknown - VUS g.96415967C>T - DNAJC3(NM_006260.4):c.919C>T (p.R307C) - DNAJC3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1037G>A r.(?) p.(Arg346Gln) Unknown - VUS g.96416169G>A g.95763915G>A DNAJC3(NM_006260.4):c.1037G>A (p.R346Q) - DNAJC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1037G>A r.(?) p.(Arg346Gln) Parent #2 - VUS g.96416169G>A g.95763915G>A - - DNAJC3_000005 - PubMed: Synofzik 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam PubMed: Synofzik 2014 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1060G>C r.(?) p.(Glu354Gln) Both (homozygous) - likely benign g.96416192G>C g.95763938G>C - - DNAJC3_000020 - PubMed: Synofzik 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam PubMed: Synofzik 2014 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1110T>C r.(?) p.(Asn370=) Unknown - likely benign g.96438227T>C - DNAJC3(NM_006260.4):c.1110T>C (p.N370=) - DNAJC3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1177C>T r.(?) p.(Arg393Ter) Unknown - VUS g.96438294C>T g.95786040C>T - - DNAJC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1230T>C r.(?) p.(Ile410=) Unknown - likely benign g.96439282T>C - DNAJC3(NM_006260.4):c.1230T>C (p.I410=) - DNAJC3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1242C>T r.(?) p.(Tyr414=) Unknown - likely benign g.96439294C>T g.95787040C>T DNAJC3(NM_006260.5):c.1242C>T (p.Y414=) - DNAJC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1425C>A r.(?) p.(Gly475=) Unknown - likely benign g.96443194C>A g.95790940C>A DNAJC3(NM_006260.5):c.1425C>A (p.G475=) - DNAJC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.