Full data view for gene DHDDS

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

114 entries on 2 pages. Showing entries 1 - 100.
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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.-53T>G r.(?) p.(=) Unknown - VUS g.26759384T>G - DHDDS(NM_205861.3):c.-53T>G - DHDDS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.63+14C>T r.(=) p.(=) Unknown - benign g.26759513C>T g.26433022C>T DHDDS(NM_024887.4):c.63+14C>T - DHDDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64-366A>T r.(=) p.(=) Unknown - likely benign g.26764293A>T - DHDDS(NM_205861.3):c.64-366A>T - DHDDS_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.64-7T>C r.(=) p.(=) Unknown - VUS g.26764652T>C g.26438161T>C - - DHDDS_000025 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP338 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+/. - c.109C>T r.(?) p.(Arg37Cys) Unknown - pathogenic g.26764704C>T g.26438213C>T - - DHDDS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.110G>A r.(?) p.(Arg37His) Unknown - pathogenic g.26764705G>A - - - DHDDS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.110G>A r.(?) p.(Arg37His) Unknown - pathogenic (dominant) g.26764705G>A - NM_205861:c.G110A (R37H) - DHDDS_000023 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0762 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
+?/. - c.110G>A r.(?) p.(Arg37His) Unknown - likely pathogenic g.26764705G>A g.26438214G>A - - DHDDS_000023 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - WES clinical DEE indvSG PubMed: Hamdan 2017 - F - United States - - - - - 1 Johan den Dunnen
+/. 3 c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Sharon 2015, PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0213 PubMed: Sharon 2015, PubMed: Kimchi 2018, PubMed: Sharon 2019 - M no Israel Jewish-Ashkenazi - - - - 4 Dror Sharon
+/. 3 c.124A>G r.(?) p.(Lys42Glu) Parent #1 - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1340 PubMed: Kimchi 2018, PubMed: Sharon 2019 - F no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease MOL1167 PubMed: Kimchi 2018 - - - Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Kimchi 2018 12 families - - Israel Jewish-Ashkenazi - - - - 12 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Venturini 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat121-544 PubMed: Venturini 2015 - - - Russia Jewish;Europe-E - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Venturini 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat121-217 PubMed: Venturini 2015 - - - Russia Jewish - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Venturini 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat121-463 PubMed: Venturini 2015 - - - Russia Jewish - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Venturini 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat003-110 PubMed: Venturini 2015 - - - Romania;Russia Jewish - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Venturini 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat003-015 PubMed: Venturini 2015 - - - Russia Jewish - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Parent #2 - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease MOL1230 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1167 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0972 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1044 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1050 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1081 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1101 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1287 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1290 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1358 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1366 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1445 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 19 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 267 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Biswas 2017 - rs147394623 Germline - - - - - DNA SEQ-NG - WES retinal disease RF.TE.0512 PubMed: Biswas 2017 - - - United States Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Parent #1 - pathogenic g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Biswas 2017 - rs147394623 Germline - - - - - DNA SEQ-NG - WES retinal disease RF.AA.1104 PubMed: Biswas 2017 - - - United States Jewish - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Biswas 2017 - rs147394623 Germline - - - - - DNA SEQ-NG - WES retinal disease RF.PO.1109 PubMed: Biswas 2017 - - - United States Jewish-Ashkenazi - - - - 1 LOVD
?/. - c.124A>G r.(?) p.(Lys42Glu) Unknown - VUS g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Wang 2014 - rs147394623 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 19 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
?/. - c.124A>G r.(?) p.(Lys42Glu) Unknown - VUS g.26764719A>G - DHDDS(NM_024887.3):c.124A>G (p.K42E) - DHDDS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.124A>G r.(?) p.(Lys42Glu) Unknown - likely pathogenic g.26764719A>G g.26438228A>G p.Lys42Glu:c.124A/G; intronic variant, c.441-24A/G - DHDDS_000005 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G p.Lys42Glu:c.124A/G (homozygous) - DHDDS_000005 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G p.Lys42Glu:c.124A/G (homozygous) - DHDDS_000005 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G p.Lys42Glu:c.124A/G (homozygous) - DHDDS_000005 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Unknown - pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G, p.Lys42Glu - DHDDS_000005 AJ founder mutation, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-217 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Unknown - pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G, p.Lys42Glu - DHDDS_000005 AJ founder mutation, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-544 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic g.26764719A>G g.26438228A>G c.124A>G, p.Lys42Glu - DHDDS_000005 AJ founder mutation, homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-217 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic g.26764719A>G g.26438228A>G c.124A>G, p.Lys42Glu - DHDDS_000005 AJ founder mutation, homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-544 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G, p.K42E - DHDDS_000005 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 63 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G, p.K42E - DHDDS_000005 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 64 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
?/. 3 c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - VUS g.26764719A>G - p.K42E/p.K42E - DHDDS_000005 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 - F - United States - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) ACMG pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G, p.(Lys42Glu) - DHDDS_000005 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.001 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD0262 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD0262-1 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD0677 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD3323 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD3458 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD4047 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD5151 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0397-1 PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0400-1 PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0565-1 (II:2) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0565-2 (II:3) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0718-1 PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0735-1 (II:2) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0779-1 (II:1) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0779-2 (II:2) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0884-1 (II:1) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0884-2 (II:2) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0884-4 (II:4) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease TB31/R54 (II:1) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease TB61/R226 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zuchner 2011 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease II:1 PubMed: Zuchner 2011 - ? - - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zuchner 2011 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease II:2 PubMed: Zuchner 2011 - ? - - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zuchner 2011 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease II:4 PubMed: Zuchner 2011 - ? - - Ashkenazi Jewish - - - - 1 LOVD
-?/. - c.140G>A r.(?) p.(Arg47Gln) Unknown - likely benign g.26764735G>A g.26438244G>A DHDDS(NM_024887.4):c.140G>A (p.R47Q) - DHDDS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170A>G r.(?) p.(Lys57Arg) Unknown - VUS g.26764765A>G g.26438274A>G - - DHDDS_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.180+15C>T r.(=) p.(=) Unknown - likely benign g.26764790C>T - DHDDS(NM_001319959.2):c.-123+15C>T - DHDDS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T r.(?) p.(Arg63Trp) Unknown - VUS g.26769228C>T - DHDDS(NM_205861.3):c.187C>T (p.(Arg63Trp)) - DHDDS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.192G>A r.(?) p.(Trp64Ter) Paternal (confirmed) - likely pathogenic g.26769233G>A g.26442742G>A DHDDS c.192G > A (p.W64X) - DHDDS_000029 heterozygous PubMed: Sabry 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing RP59;CDG1BB ? PubMed: Sabry 2016 - M no - - 00y08m - - - 1 LOVD
-?/. - c.220A>C r.(?) p.(Thr74Pro) Unknown - likely benign g.26769261A>C g.26442770A>C - - DHDDS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.283G>A r.(?) p.(Asp95Asn) Unknown ACMG VUS g.26769324G>A - - - DHDDS_000024 ACMG PM2, PP3, PP4; The patient's electroclinical phenotype shares some features with previous reports for this gene, namely ataxia and myoclonus. However onset is considerably later, and there is no history of developmental delay. Whilst functional studies support a damaging effect for this novel variant, but with a maternal DNA sample to confirm de novo status, we remain cautious and report this finding with moderate confidence. PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - DNA SEQ, SEQ-NG WES - DD PME27 PubMed: Courage 2021, Journal: Courage 2021 - F no Italy - - - - - 1 Carolina Courage
+?/. 4 c.292C>T r.(?) p.(Arg98Trp) Parent #2 - likely pathogenic (recessive) g.26769333C>T g.26442842C>T - - DHDDS_000006 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1340 PubMed: Kimchi 2018, PubMed: Sharon 2019 - F no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
?/. - c.292C>T r.(?) p.(Arg98Trp) Unknown - VUS g.26769333C>T g.26442842C>T - - DHDDS_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs754564043 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.305G>A r.(?) p.(Ser102Asn) Unknown - VUS g.26769346G>A g.26442855G>A - - DHDDS_000026 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 52 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
-?/. - c.308G>A r.(?) p.(Arg103His) Unknown - likely benign g.26769349G>A - DHDDS(NM_205861.3):c.308G>A (p.(Arg103His)) - DHDDS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.324-10C>T r.(=) p.(=) Unknown - benign g.26772797C>T g.26446306C>T DHDDS(NM_001319959.1):c.45-10C>T, DHDDS(NM_024887.4):c.324-10C>T - DHDDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.324-10C>T r.(=) p.(=) Unknown - likely benign g.26772797C>T - DHDDS(NM_001319959.1):c.45-10C>T, DHDDS(NM_024887.4):c.324-10C>T - DHDDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367G>A r.(?) p.(Asp123Asn) Unknown - VUS g.26772850G>A g.26446359G>A - - DHDDS_000008 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs140565871 Germline - 5/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 5 Yoshito Koyanagi
+?/. - c.441-24A>G r.spl? p.(?) Unknown - likely pathogenic g.26774026A>G g.26447535A>G p.Lys42Glu:c.124A/G; intronic variant, c.441-24A/G - DHDDS_000028 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. 5i c.441-24A>G r.440_543del102ins63 p.(Cys148Glufs*11) Maternal (confirmed) - likely pathogenic g.26774026A>G g.26447535A>G DHDDS c.441-24A > G, c.440_543del102ins63 (p.C148EfsX11) - DHDDS_000028 creates a cryptic donor splice site (with score of 0.99 rather than 0.65 for the normal exon 6 donor site) leading to loss of exon 6, a 63 base insertion into intron 5 - tested on mRNA level; heterozygous PubMed: Sabry 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing RP59;CDG1BB ? PubMed: Sabry 2016 - M no - - 00y08m - - - 1 LOVD
?/. - c.514G>C r.(?) p.(Gly172Arg) Unknown - VUS g.26774123G>C - DHDDS(NM_001319959.1):c.235G>C (p.G79R) - DHDDS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.516G>C r.(?) p.(Gly172=) Unknown - likely benign g.26774125G>C g.26447634G>C DHDDS(NM_001319959.1):c.237G>C (p.G79=) - DHDDS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.542+8G>A r.(=) p.(=) Unknown - benign g.26774159G>A g.26447668G>A DHDDS(NM_024887.4):c.542+8G>A - DHDDS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.552T>A r.(?) p.(Ser184=) Unknown - likely benign g.26784291T>A - DHDDS(NM_001319959.1):c.273T>A (p.S91=) - DHDDS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.614G>A r.(?) p.(Arg205Gln) Unknown - likely pathogenic g.26784353G>A g.26457862G>A DHDDS(NM_024887.4):c.614G>A (p.R205Q) - DHDDS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614G>A r.(?) p.(Arg205Gln) Unknown ACMG VUS (!) g.26784353G>A - - - DHDDS_000017 ACMG: PM6, PM2_SUP, PP3: class 3 - ClinVar-000570739 - Germline ? - - - - DNA SEQ-NG-I - - DEDSM 176266 - - F ? Germany - - - - - 1 Andreas Laner
+/. - c.614G>A r.(?) p.(Arg205Gln) Unknown ACMG pathogenic g.26784353G>A - - - DHDDS_000017 ACMG PS3, PM1, PM2, PP2, PP3, PP5; Although there is no history of developmental delay, the patient's electroclinical phenotype shares several other features with previous reports for this gene, including early onset ataxia and subsequent myoclonus. Functional studies support the damaging in silico predications for this novel variant, but without parental DNA samples to confirm de novo status, we remain cautious and report this finding with moderate confidence. PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - DNA SEQ, SEQ-NG WES - DD PME71 PubMed: Courage 2021, Journal: Courage 2021 - F no Italy - - - - - 1 Carolina Courage
+/. - c.616A>G r.(?) p.(Thr206Ala) Parent #1 - pathogenic (recessive) g.26784355A>G - - - DHDDS_000022 - PubMed: Kimchi 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease MOL1230 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.616A>G r.(?) p.(Thr206Ala) Parent #2 - pathogenic g.26784355A>G g.26457864A>G - - DHDDS_000022 - PubMed: Biswas 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RF.AA.1104 PubMed: Biswas 2017 - - - United States Jewish - - - - 1 LOVD
+/. - c.632G>A r.(?) p.(Arg211Gln) Unknown - pathogenic g.26784371G>A g.26457880G>A DHDDS(NM_024887.4):c.632G>A (p.R211Q) - DHDDS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.632G>A r.(?) p.(Arg211Gln) Unknown ACMG pathogenic g.26784371G>A - - - DHDDS_000018 ACMG PS1, PS2, PS3, PM1, PM2, PP2, PP3, PP5; The patient's electroclinical phenotype is similar to previous reports for this gene, notably onset of myoclonus and ataxia in the first decade of life on a background of global developmental delay. The confirmed de novo has been reported previously as pathogenic in a patient with developmental and epileptic encephalopathy and our functional studies support the damaging in silico predications. It is therefore with high confidence that we expand the DHDDS clinical spectrum to PME. PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - DNA SEQ, SEQ-NG WES trio - DD PME3 PubMed: Courage 2021, Journal: Courage 2021 - M no Italy - - - - - 1 Carolina Courage
+/. - c.632G>A r.(?) p.(Arg211Gln) Unknown - pathogenic g.26784371G>A - DHDDS(NM_024887.4):c.632G>A (p.R211Q) - DHDDS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.632G>A r.(?) p.(Arg211Gln) Unknown - likely pathogenic (dominant) g.26784371G>A g.26457880G>A - - DHDDS_000018 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - trio WES DEE indvEF PubMed: Hamdan 2017 - F - United States - - - - - 1 Johan den Dunnen
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