Full data view for gene DNAJC12

Information The variants shown are described using the NM_021800.2 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.58_59del r.(?) p.(Gly20Metfs*2) Both (homozygous) - pathogenic (recessive) g.69597712_69597713del g.67837954_67837955del 58_59delGG - DNAJC12_000012 - PubMed: Veenma 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamPat1 PubMed: Veenma 2018 2-generation family, affected brothers, unaffected heterozygous carrier parents M yes Afghanistan - - - - - 2 Johan den Dunnen
+/. - c.58_59del r.(?) p.(Gly20Metfs*2) Both (homozygous) - pathogenic (recessive) g.69597712_69597713del g.67837954_67837955del 58_59delGG - DNAJC12_000012 - PubMed: Veenma 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamPat2 PubMed: Veenma 2018 - M yes Afghanistan - - - - - 1 Johan den Dunnen
+/. - c.79-2A>G r.79_157del p.? Both (homozygous) - pathogenic (recessive) g.69583152T>C g.67823394T>C - - DNAJC12_000011 - PubMed: Straniero 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES PARK FamB PubMed: Straniero 2017 2-generation family, affected brother/sister, unaffected parents/relatives F;M yes Italy - - - - - 2 Johan den Dunnen
+/. 1i_4i c.(78+1_79-1)_(502+1_503-1)dup r.? p.? Maternal (confirmed) ACMG pathogenic (recessive) g.(69556969_69565340)_(69583151_69597691)dup g.(67797211_67805582)_(67823393_67837933)dup 79_502dup - DNAJC12_000019 - PubMed: Luo 2023 - - Germline yes - - - - DNA SEQ-NG blood - PKU HPA-58 PubMed: Luo 2023 - F no China - - - - - 1 Xiaomei Luo
?/. 2 c.85C>A r.(?) p.(Gln29Lys) Maternal (confirmed) ACMG VUS g.69583144G>T - - - DNAJC12_000018 - PubMed: Luo 2023 - - Germline yes - - - - DNA SEQ-NG blood - PKU HPA-55 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. - c.85del r.(?) p.(Gln29Lysfs*38) Parent #1 - pathogenic (recessive) g.69583144del g.67823386del 85delC - DNAJC12_000010 - PubMed: van Spronsen 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HPA FamPat1A PubMed: van Spronsen 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no Netherlands white - - - - 2 Johan den Dunnen
+/. - c.85del r.(?) p.(Gln29Lysfs*38) Both (homozygous) - pathogenic (recessive) g.69583144del g.67823386del 86delC - DNAJC12_000010 - PubMed: van Spronsen 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HPA FamPat1B PubMed: van Spronsen 2017 - F no Netherlands white - - - - 1 Johan den Dunnen
+/. - c.158-2A>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.69571423T>A g.67811665T>A - - DNAJC12_000009 - PubMed: Anikster 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamBPatIV1 PubMed: Anikster 2017 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes - Arab-Muslim - - - - 2 Johan den Dunnen
+/. - c.158-2A>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.69571423T>A g.67811665T>A - - DNAJC12_000009 - PubMed: Anikster 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamBPatIV2 PubMed: Anikster 2017 - M yes - Arab-Muslim - - - - 1 Johan den Dunnen
+/. - c.187A>T r.(?) p.(Lys63*) Both (homozygous) - pathogenic (recessive) g.69571392T>A g.67811634T>A - - DNAJC12_000008 - PubMed: Straniero 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PARK FamA PubMed: Straniero 2017 2-generation family, affected brother/sister, unaffected parents/relatives F;M - Canada - - - - - 2 Johan den Dunnen
+/. - c.214C>T r.(?) p.(Arg72*) Both (homozygous) - pathogenic (recessive) g.69571365G>A g.67811607G>A - - DNAJC12_000007 - PubMed: van Spronsen 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamPat2A PubMed: van Spronsen 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.214C>T r.(?) p.(Arg72*) Both (homozygous) - pathogenic (recessive) g.69571365G>A g.67811607G>A - - DNAJC12_000007 - PubMed: van Spronsen 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamPat2B PubMed: van Spronsen 2017 - - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.214C>T r.(?) p.(Arg72*) Both (homozygous) - pathogenic (recessive) g.69571365G>A g.67811607G>A - - DNAJC12_000007 - PubMed: van Spronsen 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamPat3 PubMed: van Spronsen 2017 - - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.215G>C r.(?) p.(Arg72Pro) Both (homozygous) - pathogenic (recessive) g.69571364C>G g.67811606C>G - - DNAJC12_000006 - PubMed: Anikster 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamCPatII2 PubMed: Anikster 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.297+1del r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.69571282del g.67811524del - - DNAJC12_000017 - PubMed: Luo 2023 - - Germline yes - - - - DNA SEQ-NG blood - PKU HPA-58 PubMed: Luo 2023 - F no China - - - - - 1 Xiaomei Luo
+/. 3i_4i c.298-953_503-2589del r.? p.? Both (homozygous) - pathogenic (recessive) g.69559572_69566513del g.67799814_67806755del 298-968_503-2603del6943 - DNAJC12_000005 - PubMed: Anikster 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamAPatIV2 PubMed: Anikster 2017 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Morocco - - - - - 2 Johan den Dunnen
+/. 3i_4i c.298-953_503-2589del r.? p.? Both (homozygous) - pathogenic (recessive) g.69559572_69566513del g.67799814_67806755del 298-968_503-2603del6943 - DNAJC12_000005 - PubMed: Anikster 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamAPatIV4 PubMed: Anikster 2017 - F yes Morocco - - - - - 1 Johan den Dunnen
+/. 3i_4i c.298-953_503-2589del r.? p.? Both (homozygous) - pathogenic (recessive) g.69559572_69566513del g.67799814_67806755del 298-968_503-2603del6943 - DNAJC12_000005 - PubMed: Anikster 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamDPatIV1 PubMed: Anikster 2017 5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Morocco - - - - - 1 Johan den Dunnen
+/. 3i_4i c.298-953_503-2589del r.? p.? Both (homozygous) - pathogenic (recessive) g.69559572_69566513del g.67799814_67806755del - - DNAJC12_000005 - PubMed: de Sain-van der Velden 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA Pat PubMed: de Sain-van der Velden 2018 2-generation family, 2 affected, unaffected parents/relatives M yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.298-2A>C r.spl p.? Parent #2 - pathogenic (recessive) g.69565547T>G g.67805789T>G - - DNAJC12_000014 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.298-2A>C r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.69565547T>G g.67805789T>G - - DNAJC12_000014 - Leal 2017 (Abs290), Journal: Gallego 2020 - - Germline - - - - - DNA SEQ - - HPANBH4 - Journal: Gallego 2020 - - - - - - - - - 1 Belen Perez
?/. 4 c.306C>G r.(?) p.(His102Gln) Paternal (confirmed) ACMG VUS g.69565537G>C - - - DNAJC12_000016 - PubMed: Luo 2023 - - Germline yes - - - - DNA SEQ-NG blood - PKU HPA-55 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. - c.309G>T r.(?) p.(Trp103Cys) Parent #2 - pathogenic (recessive) g.69565534C>A g.67805776C>A - - DNAJC12_000015 - Journal: Gallego 2020 - - Germline - - - - - DNA SEQ - - HPANBH4 - Journal: Gallego 2020 - - - - - - - - - 1 Belen Perez
?/. - c.497C>T r.(?) p.(Ser166Phe) Unknown - VUS g.69565346G>A g.67805588G>A - - DNAJC12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.502+1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.69565340C>G g.67805582C>G - - DNAJC12_000013 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.502+1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.69565340C>G g.67805582C>G - - DNAJC12_000013 - Leal 2017 (Abs290), Journal: Gallego 2020 - - Germline - - - - - DNA SEQ - - HPANBH4 - Journal: Gallego 2020 - - - - - - - - - 1 Belen Perez
+/. - c.524G>A r.(?) p.(Trp175*) Both (homozygous) - pathogenic g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Gallego 2020 - - Germline yes - - - - DNA SEQ - - HPANBH4 - Journal: Gallego 2020 - M - Spain - - - - - 1 Belen Perez
+/. - c.524G>A r.(?) p.(Trp175*) Both (homozygous) - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.524G>A r.(?) p.(Trp175*) Both (homozygous) - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.524G>A r.(?) p.(Trp175*) Both (homozygous) - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.524G>A r.(?) p.(Trp175*) Both (homozygous) - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.524G>A r.(?) p.(Trp175*) Both (homozygous) - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.524G>A r.(?) p.(Trp175*) Both (homozygous) - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.524G>A r.(?) p.(Trp175*) Both (homozygous) - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.524G>A r.(?) p.(Trp175*) Both (homozygous) - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.524G>A r.(?) p.(Trp175*) Parent #1 - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.524G>A r.(?) p.(Trp175*) Parent #1 - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Journal: Leal 2017 (Abs290) - - Germline - - - - - DNA MLPA, SEQ - - HPA - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - 1 Johan den Dunnen
+/. - c.524G>A r.(?) p.(Trp175*) Maternal (confirmed) - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Leal 2017 (Abs290), Journal: Gallego 2020 - - Germline - - - - - DNA SEQ - - HPANBH4 - Journal: Gallego 2020 - - - - - - - - - 1 Belen Perez
+/. - c.524G>A r.(?) p.(Trp175*) Parent #2 - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Leal 2017 (Abs290), Journal: Gallego 2020 - - Germline - - - - - DNA SEQ - - HPANBH4 - Journal: Gallego 2020 - - - - - - - - - 1 Belen Perez
+/. - c.524G>A r.(?) p.(Trp175*) Parent #1 - pathogenic (recessive) g.69556947C>T g.67797189C>T - - DNAJC12_000001 - Leal 2017 (Abs290), Journal: Gallego 2020 - - Germline - - - - - DNA SEQ - - HPANBH4 - Journal: Gallego 2020 - - - - - - - - - 1 Belen Perez
+/. 5 c.524G>A r.(?) p.(Trp175Ter) Parent #1 - pathogenic g.69556947C>T g.67797189C>T - - DNAJC12_000001 - PubMed: Navarrete 2019 - rs370032864 Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome panel metabolic syndrome Pat139 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.524G>A r.(?) p.(Trp175Ter) Parent #2 - pathogenic g.69556947C>T g.67797189C>T - - DNAJC12_000001 - PubMed: Navarrete 2019 - rs370032864 Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome panel metabolic syndrome Pat139 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.538C>T r.(?) p.(Arg180Cys) Unknown - VUS g.69556933G>A g.67797175G>A - - DNAJC12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.596G>T r.(?) p.(*199Leuext*42) Parent #2 - pathogenic (recessive) g.69556875C>A g.67797117C>A - - DNAJC12_000004 - PubMed: van Spronsen 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamPat1A PubMed: van Spronsen 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no Netherlands white - - - - 2 Johan den Dunnen
+/. - c.596G>T r.(?) p.(*199Leuext*42) Parent #2 - pathogenic (recessive) g.69556875C>A g.67797117C>A - - DNAJC12_000004 - PubMed: van Spronsen 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HPA FamPat1B PubMed: van Spronsen 2017 - F no Netherlands white - - - - 1 Johan den Dunnen
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