Full data view for gene DNAJC30

Information The variants shown are described using the NM_032317.2 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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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.-3222C>T r.(?) p.(=) Unknown - likely benign g.73100975G>A - BUD23(NM_001202560.3):c.96G>A (p.M32I) - DNAJC30_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam1 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam2 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam3 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam4 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam5 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam6 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam7 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 incomplete penetrance Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam8 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, 3 unaffected homozygous females, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam9 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam10 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 incomplete penetrance Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam11 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, 1 unaffected homozygous male, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam12 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam13 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam14 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam15 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - - - - - - - 2 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam16 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam9 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam19 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam21 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam22 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam23 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam24 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam25 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam26 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam27 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam28 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.spl? p.(Tyr51Cys) Both (homozygous) - pathogenic (!) g.73097602T>C g.73683272T>C - - DNAJC30_000003 incomplete penetrance Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam29 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, 1 unaffected homozygous female, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 59 (1316) PubMed: Kieninger 2022 2-generation family, 2 affected brothers M - Germany - - - - - 2 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 59 (1824) PubMed: Kieninger 2022 brother of LHON 59 (1316) M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 84 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 96 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 210 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 238 PubMed: Kieninger 2022 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 246 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 286 PubMed: Kieninger 2022 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 347 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 377 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 380 PubMed: Kieninger 2022 - M - Germany Arab - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 466 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 507 PubMed: Kieninger 2022 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 526 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 573 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 582 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 600 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 606 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 612 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 749 (12040) PubMed: Kieninger 2022 2-generation family, 2 affected twin brothers M - Germany - - - - - 2 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 749 (14508) PubMed: Kieninger 2022 twin of LHON 749 (12040) M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 760 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 785 PubMed: Kieninger 2022 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 895 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 1076 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 1088 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 1089 PubMed: Kieninger 2022 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - LHON LHON 1129 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 1149 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - OPA OAK 317 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - OPA OAK 627 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ - - OPA OAK 715 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 - PubMed: Kieninger 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS OPA OAK 767 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.152A>G r.(?) p.(Tyr51Cys) Unknown - likely pathogenic g.73097602T>C - - - DNAJC30_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.152A>G r.(?) p.(Tyr51Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.73097602T>C g.73683272T>C - - DNAJC30_000003 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 976691 - Germline - - - - - DNA SEQ-NG - WGS ? OAK-767 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+/. - c.152A>G r.(?) p.(Tyr51Cys) Unknown ACMG pathogenic g.73097602T>C g.73683272T>C - - DNAJC30_000003 ACMG PP5, PP3, PM2; 1/142 in controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat60 PubMed: Horbacz 2025 patient, affected F - Poland - - - - - 1 Johan den Dunnen
+/. - c.230_232del r.(?) p.(His77del) Both (homozygous) - pathogenic (recessive) g.73097525_73097527del g.73683195_73683197del - - DNAJC30_000008 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - OPA OAK 559 (19776) PubMed: Kieninger 2022 2-generation family, 2 affected brothers M - Germany Turkey - - - - 2 Johan den Dunnen
+/. - c.230_232del r.(?) p.(His77del) Both (homozygous) - pathogenic (recessive) g.73097525_73097527del g.73683195_73683197del - - DNAJC30_000008 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS OPA OAK 559 (31530) PubMed: Kieninger 2022 brother of OAK 559 (19776) M - Germany Turkey - - - - 1 Johan den Dunnen
?/. - c.230_232del r.(?) p.(His77del) Both (homozygous) ACMG VUS g.73097525_73097527del g.73683195_73683197del - - DNAJC30_000008 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? OAK-559 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+/. - c.232C>T r.(?) p.(Pro78Ser) Both (homozygous) - pathogenic (recessive) g.73097522G>A g.73683192G>A - - DNAJC30_000002 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam18 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
+?/. - c.278G>C r.(?) p.(Arg93Pro) Parent #1 - likely pathogenic (recessive) g.73097476C>G g.73683146C>G - - DNAJC30_000007 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.292T>C r.(?) p.(Tyr98His) Parent #1 - likely pathogenic (recessive) g.73097462A>G g.73683132A>G - - DNAJC30_000006 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.302T>A r.(?) p.(Leu101Gln) Both (homozygous) - pathogenic (recessive) g.73097452A>T g.73683122A>T - - DNAJC30_000001 - Stenton ESHG2020 C25.5, PubMed: Stenton 2021 - - Germline - - - - - DNA SEQ - - LHON Fam20 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
+?/. - c.494A>G r.(?) p.(Asp165Gly) Parent #1 - likely pathogenic (recessive) g.73097260T>C g.73682930T>C - - DNAJC30_000005 no variant 2nd chromosome PubMed: Kieninger 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LHON - PubMed: Kieninger 2022 - - - Germany - - - - - 1 Johan den Dunnen
?/. - c.568C>T r.(?) p.(Arg190Cys) Unknown - VUS g.73097186G>A - - - DNAJC30_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.610G>T r.(?) p.(Glu204Ter) Parent #2 - pathogenic (recessive) g.73097144C>A g.73682814C>A - - DNAJC30_000004 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 96 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.610G>T r.(?) p.(Glu204Ter) Parent #2 - pathogenic (recessive) g.73097144C>A g.73682814C>A - - DNAJC30_000004 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 573 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.610G>T r.(?) p.(Glu204Ter) Parent #2 - pathogenic (recessive) g.73097144C>A g.73682814C>A - - DNAJC30_000004 - PubMed: Kieninger 2022 - - Germline yes - - - - DNA SEQ - - LHON LHON 1149 PubMed: Kieninger 2022 - M - Germany - - - - - 1 Johan den Dunnen
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