Full data view for gene ADCK3

NOTE: gene symbol was recently changed from ADCK3 to COQ8A.
Information The variants shown are described using the NM_020247.4 transcript reference sequence.

136 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.-46312C>T r.(?) p.(=) Unknown - VUS g.227081798C>T - PSEN2(NM_000447.3):c.1163C>T (p.(Thr388Met)) - ADCK3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-46308G>A r.(?) p.(=) Unknown - likely benign g.227081802G>A g.226894101G>A PSEN2(NM_000447.2):c.1167G>A (p.L389=) - PSEN2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-46299C>T r.(?) p.(=) Unknown - likely benign g.227081811C>T g.226894110C>T PSEN2(NM_000447.3):c.1176C>T (p.F392=) - PSEN2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-46299C>T r.(?) p.(=) Unknown - benign g.227081811C>T g.226894110C>T PSEN2(NM_000447.3):c.1176C>T (p.F392=) - PSEN2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-46260G>A r.(?) p.(=) Unknown - benign g.227081850G>A g.226894149G>A PSEN2(NM_000447.2):c.1191+24G>A - ADCK3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44967C>G r.(?) p.(=) Unknown - VUS g.227083143C>G g.226895442C>G PSEN2(NM_000447.2):c.1210C>G (p.L404V) - PSEN2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44915C>T r.(?) p.(=) Unknown - VUS g.227083195C>T - PSEN2(NM_000447.2):c.1262C>T (p.(Thr421Met)) - ADCK3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44874C>T r.(?) p.(=) Unknown - VUS g.227083236C>T - PSEN2(NM_000447.2):c.1303C>T (p.R435W) - ADCK3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10+8T>C r.(=) p.(=) Unknown - likely benign g.227128108T>C g.226940407T>C ADCK3(NM_020247.4):c.-10+8T>C (p.(=)) - ADCK3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25A>G r.(?) p.(Ile9Val) Unknown - likely benign g.227149111A>G - COQ8A(NM_020247.4):c.25A>G (p.I9V) - ADCK3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.63G>A r.(?) p.(Ala21=) Unknown - benign g.227149149G>A g.226961448G>A COQ8A(NM_020247.4):c.63G>A (p.A21=), COQ8A(NM_020247.5):c.63G>A (p.A21=) - ADCK3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.63G>A r.(?) p.(Ala21=) Unknown - benign g.227149149G>A g.226961448G>A COQ8A(NM_020247.4):c.63G>A (p.A21=), COQ8A(NM_020247.5):c.63G>A (p.A21=) - ADCK3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78C>T r.(?) p.(His26=) Unknown - likely benign g.227149164C>T g.226961463C>T COQ8A(NM_020247.4):c.78C>T (p.H26=) - ADCK3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117G>A r.(?) p.(Ala39=) Unknown - benign g.227149203G>A g.226961502G>A COQ8A(NM_020247.4):c.117G>A (p.A39=), COQ8A(NM_020247.5):c.117G>A (p.A39=) - ADCK3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117G>A r.(?) p.(Ala39=) Unknown - benign g.227149203G>A g.226961502G>A COQ8A(NM_020247.4):c.117G>A (p.A39=), COQ8A(NM_020247.5):c.117G>A (p.A39=) - ADCK3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117G>A r.(?) p.(Ala39=) Unknown - benign g.227149203G>A g.226961502G>A COQ8A(NM_020247.4):c.117G>A (p.A39=), COQ8A(NM_020247.5):c.117G>A (p.A39=) - ADCK3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117G>A r.(?) p.(Ala39=) Unknown - benign g.227149203G>A g.226961502G>A COQ8A(NM_020247.4):c.117G>A (p.A39=), COQ8A(NM_020247.5):c.117G>A (p.A39=) - ADCK3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238C>T r.(?) p.(His80Tyr) Unknown - likely benign g.227152761C>T g.226965060C>T ADCK3(NM_020247.4):c.238C>T (p.H80Y) - ADCK3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.248dup r.(?) p.(His85Alafs*42) Both (homozygous) - pathogenic g.227152771dup g.226965070dup 248dupT - ADCK3_000058 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-/. - c.255T>G r.(?) p.(His85Gln) Unknown - benign g.227152778T>G g.226965077T>G ADCK3(NM_020247.4):c.255T>G (p.H85Q, p.(His85Gln)), COQ8A(NM_020247.5):c.255T>G (p.H85Q) - ADCK3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.255T>G r.(?) p.(His85Gln) Unknown - benign g.227152778T>G g.226965077T>G ADCK3(NM_020247.4):c.255T>G (p.H85Q, p.(His85Gln)), COQ8A(NM_020247.5):c.255T>G (p.H85Q) - ADCK3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255T>G r.(?) p.(His85Gln) Unknown - likely benign g.227152778T>G - ADCK3(NM_020247.4):c.255T>G (p.H85Q, p.(His85Gln)), COQ8A(NM_020247.5):c.255T>G (p.H85Q) - ADCK3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279C>T r.(?) p.(Phe93=) Unknown - likely benign g.227152802C>T g.226965101C>T COQ8A(NM_020247.4):c.279C>T (p.F93=) - ADCK3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.298G>T r.(?) p.(Asp100Tyr) Unknown - likely benign g.227152821G>T g.226965120G>T COQ8A(NM_020247.4):c.298G>T (p.D100Y), COQ8A(NM_020247.5):c.298G>T (p.D100Y) - ADCK3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.298G>T r.(?) p.(Asp100Tyr) Unknown - likely benign g.227152821G>T - COQ8A(NM_020247.4):c.298G>T (p.D100Y), COQ8A(NM_020247.5):c.298G>T (p.D100Y) - ADCK3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.384C>T r.(?) p.(Ala128=) Unknown - likely benign g.227152907C>T g.226965206C>T COQ8A(NM_020247.4):c.384C>T (p.A128=), COQ8A(NM_020247.5):c.384C>T (p.A128=) - ADCK3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.384C>T r.(?) p.(Ala128=) Unknown - benign g.227152907C>T g.226965206C>T COQ8A(NM_020247.4):c.384C>T (p.A128=), COQ8A(NM_020247.5):c.384C>T (p.A128=) - ADCK3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.384C>T r.(?) p.(Ala128=) Unknown - likely benign g.227152907C>T - COQ8A(NM_020247.4):c.384C>T (p.A128=), COQ8A(NM_020247.5):c.384C>T (p.A128=) - ADCK3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.385G>A r.(?) p.(Gly129Arg) Unknown - likely benign g.227152908G>A g.226965207G>A COQ8A(NM_020247.4):c.385G>A (p.G129R) - ADCK3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.455C>A r.(?) p.(Ser152Ter) Unknown - pathogenic g.227152978C>A g.226965277C>A COQ8A(NM_020247.4):c.455C>A (p.S152*) - ADCK3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564C>T r.(?) p.(Pro188=) Unknown - likely benign g.227153087C>T g.226965386C>T COQ8A(NM_020247.4):c.564C>T (p.P188=), COQ8A(NM_020247.5):c.564C>T (p.P188=) - ADCK3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564C>T r.(?) p.(Pro188=) Unknown - likely benign g.227153087C>T g.226965386C>T COQ8A(NM_020247.4):c.564C>T (p.P188=), COQ8A(NM_020247.5):c.564C>T (p.P188=) - ADCK3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588+7A>G r.(=) p.(=) Unknown - likely benign g.227153118A>G g.226965417A>G COQ8A(NM_020247.4):c.588+7A>G - ADCK3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.611G>A r.(?) p.(Arg204Gln) Unknown - VUS g.227153394G>A - COQ8A(NM_020247.5):c.611G>A (p.(Arg204Gln)) - ADCK3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.618G>A r.(?) p.(Val206=) Unknown - likely benign g.227153401G>A g.226965700G>A COQ8A(NM_020247.4):c.618G>A (p.V206=) - ADCK3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.638G>A r.(?) p.(Arg213Gln) Parent #1 - likely pathogenic (recessive) g.227153421G>A g.226965720G>A - - ADCK3_000081 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED3374.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
-/. - c.655+9G>A r.(=) p.(=) Unknown - benign g.227153447G>A g.226965746G>A ADCK3(NM_020247.4):c.655+9G>A - ADCK3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697G>A r.(?) p.(Ala233Thr) Unknown - likely benign g.227165191G>A - COQ8A(NM_020247.5):c.697G>A (p.A233T) - ADCK3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.785G>A r.(?) p.(Arg262Gln) Unknown - VUS g.227169782G>A - COQ8A(NM_020247.4):c.785G>A (p.R262Q) - ADCK3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.798_823dup r.(?) p.(Leu275Argfs*16) Unknown - pathogenic g.227169795_227169820dup g.226982094_226982119dup 798_823dupGCTCTGCAAGGTGCGTGGTGCGGCAC - ADCK3_000037 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+/. - c.811C>T r.(?) p.(Arg271Cys) Paternal (confirmed) - pathogenic (recessive) g.227169808C>T - - - ADCK3_000063 - PubMed: Krygier 2019 - - Germline - - - - - DNA SEQ - - ataxia Pat9 PubMed: Krygier 2019 2-generation family, affected male twins, unaffected heterozygous carrier parents M - Poland - - - - - 2 Johan den Dunnen
?/. - c.811C>T r.(?) p.(Arg271Cys) Parent #1 - VUS g.227169808C>T g.226982107C>T - - ADCK3_000063 - PubMed: Thevenon 2016, PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat42;PED2037.1 PubMed: Thevenon 2016, PubMed: Nambot 2018 - M - France - - - - - 1 Johan den Dunnen
+?/. - c.814G>T r.(?) p.(Gly272Cys) Both (homozygous) ACMG likely pathogenic g.227169811G>T g.226982110G>T - - ADCK3_000003 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D4;SCAR9 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.815G>C r.(?) p.(Gly272Ala) Both (homozygous) ACMG likely pathogenic g.227169812G>C g.226982111G>C - - ADCK3_000004 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D4;SCAR9 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.827A>G r.(?) p.(Lys276Arg) Maternal (confirmed) - pathogenic g.227169824A>G g.226982123A>G - - ADCK3_000060 high genotype/phenotype correlation PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat61 PubMed: Pronicka 2016 no family history M - Poland - - - - - 1 Johan den Dunnen
+/. - c.895C>T r.(?) p.(Arg299Trp) Unknown - pathogenic g.227170420C>T g.226982719C>T COQ8A(NM_020247.5):c.895C>T (p.R299W) - ADCK3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.911C>T r.(?) p.(Ala304Val) Unknown - VUS g.227170436C>T - COQ8A(NM_020247.5):c.911C>T (p.A304V) - ADCK3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.948C>T r.(?) p.(Leu316=) Unknown - likely benign g.227170603C>T g.226982902C>T COQ8A(NM_020247.4):c.948C>T (p.L316=), COQ8A(NM_020247.5):c.948C>T (p.L316=) - ADCK3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.948C>T r.(?) p.(Leu316=) Unknown - likely benign g.227170603C>T - COQ8A(NM_020247.4):c.948C>T (p.L316=), COQ8A(NM_020247.5):c.948C>T (p.L316=) - ADCK3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976G>A r.(?) p.(Asp326Asn) Unknown - VUS g.227170631G>A - COQ8A(NM_020247.5):c.976G>A (p.(Asp326Asn)) - ADCK3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.989A>G r.(?) p.(Tyr330Cys) Unknown - likely benign g.227170644A>G - COQ8A(NM_020247.5):c.989A>G (p.Y330C) - ADCK3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.993C>T r.(?) p.(Phe331=) Unknown - VUS g.227170648C>T g.226982947C>T COQ8A(NM_020247.4):c.993C>T (p.F331=), COQ8A(NM_020247.5):c.993C>T (p.F331=) - ADCK3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993C>T r.(=) p.(=) Paternal (confirmed) - likely benign g.227170648C>T g.226982947C>T - - ADCK3_000016 - PubMed: Papuc 2019 - - Germline - - - - - DNA SEQ-NG-I blood WES EE 41637 - - M no Switzerland - - - - - 1 Anaïs Begemann
-/. - c.993C>T r.(?) p.(Phe331=) Unknown - benign g.227170648C>T g.226982947C>T COQ8A(NM_020247.4):c.993C>T (p.F331=), COQ8A(NM_020247.5):c.993C>T (p.F331=) - ADCK3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.993C>T r.(?) p.(Phe331=) Unknown - benign g.227170648C>T g.226982947C>T COQ8A(NM_020247.4):c.993C>T (p.F331=), COQ8A(NM_020247.5):c.993C>T (p.F331=) - ADCK3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993C>T r.(?) p.(Phe331=) Unknown - likely benign g.227170648C>T g.226982947C>T COQ8A(NM_020247.4):c.993C>T (p.F331=), COQ8A(NM_020247.5):c.993C>T (p.F331=) - ADCK3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.993C>T r.(=) p.(=) Parent #1 - VUS g.227170648C>T g.226982947C>T - - ADCK3_000016 conflicting interpretations of pathogenicity; 58 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41303129 Germline - 58/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 58 Mohammed Faruq
+?/. - c.1015G>A r.(?) p.(Ala339Thr) Parent #1 - likely pathogenic g.227170670G>A g.226982969G>A - - ADCK3_000072 - PubMed: Srivastava 2014 - - Germline - - - - - DNA SEQ-NG - WES ? Pat18 PubMed: Srivastava 2014 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1042C>T r.(?) p.(Arg348Ter) Unknown - pathogenic g.227170697C>T g.226982996C>T ADCK3(NM_020247.4):c.1042C>T (p.(Arg348*)), COQ8A(NM_020247.4):c.1042C>T (p.R348*), COQ8A(NM_020247.5):c.1042C>T (p.R348*) - ADCK3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>T r.(?) p.(Arg348Ter) Unknown - pathogenic g.227170697C>T g.226982996C>T ADCK3(NM_020247.4):c.1042C>T (p.(Arg348*)), COQ8A(NM_020247.4):c.1042C>T (p.R348*), COQ8A(NM_020247.5):c.1042C>T (p.R348*) - ADCK3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>T r.(?) p.(Arg348Ter) Unknown - pathogenic g.227170697C>T g.226982996C>T ADCK3(NM_020247.4):c.1042C>T (p.(Arg348*)), COQ8A(NM_020247.4):c.1042C>T (p.R348*), COQ8A(NM_020247.5):c.1042C>T (p.R348*) - ADCK3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>T r.(?) p.(Arg348Ter) Unknown - pathogenic g.227170697C>T g.226982996C>T ADCK3(NM_020247.4):c.1042C>T (p.(Arg348*)), COQ8A(NM_020247.4):c.1042C>T (p.R348*), COQ8A(NM_020247.5):c.1042C>T (p.R348*) - ADCK3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1049A>G r.(?) p.(Lys350Arg) Unknown - likely benign g.227170704A>G g.226983003A>G ADCK3(NM_020247.4):c.1049A>G (p.K350R) - ADCK3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1053C>T r.(?) p.(Gly351=) Unknown - benign g.227170708C>T g.226983007C>T COQ8A(NM_020247.4):c.1053C>T (p.G351=), COQ8A(NM_020247.5):c.1053C>T (p.G351=) - ADCK3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1053C>T r.(?) p.(Gly351=) Unknown - likely benign g.227170708C>T g.226983007C>T COQ8A(NM_020247.4):c.1053C>T (p.G351=), COQ8A(NM_020247.5):c.1053C>T (p.G351=) - ADCK3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1057C>T r.(?) p.(Arg353Cys) Maternal (confirmed) - VUS g.227170712C>T g.226983011C>T - - ADCK3_000040 - PubMed: Papuc 2019 - - Germline - - - - - DNA SEQ-NG-I blood WES EE 41637 - - M no Switzerland - - - - - 1 Anaïs Begemann
?/. - c.1080+2T>C r.spl? p.? Unknown - VUS g.227170737T>C g.226983036T>C ADCK3(NM_020247.4):c.1080+2T>C (p.?) - ADCK3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1131C>T r.(?) p.(Ala377=) Unknown - likely benign g.227171303C>T - COQ8A(NM_020247.4):c.1131C>T (p.A377=) - ADCK3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1136T>A r.(?) p.(Leu379Ter) Unknown - likely pathogenic g.227171308T>A - COQ8A(NM_020247.4):c.1136T>A (p.L379*) - ADCK3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1185C>T r.(?) p.(Ile395=) Unknown - benign g.227171484C>T g.226983783C>T COQ8A(NM_020247.4):c.1185C>T (p.I395=), COQ8A(NM_020247.5):c.1185C>T (p.I395=) - ADCK3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1185C>T r.(?) p.(Ile395=) Unknown - likely benign g.227171484C>T g.226983783C>T COQ8A(NM_020247.4):c.1185C>T (p.I395=), COQ8A(NM_020247.5):c.1185C>T (p.I395=) - ADCK3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1185C>T r.(?) p.(Ile395=) Unknown - likely benign g.227171484C>T g.226983783C>T COQ8A(NM_020247.4):c.1185C>T (p.I395=), COQ8A(NM_020247.5):c.1185C>T (p.I395=) - ADCK3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1185C>T r.(?) p.(Ile395=) Unknown - benign g.227171484C>T g.226983783C>T COQ8A(NM_020247.4):c.1185C>T (p.I395=), COQ8A(NM_020247.5):c.1185C>T (p.I395=) - ADCK3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1188C>T r.(?) p.(Asp396=) Unknown - benign g.227171487C>T g.226983786C>T COQ8A(NM_020247.4):c.1188C>T (p.D396=), COQ8A(NM_020247.5):c.1188C>T (p.D396=) - ADCK3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188C>T r.(?) p.(Asp396=) Unknown - likely benign g.227171487C>T g.226983786C>T COQ8A(NM_020247.4):c.1188C>T (p.D396=), COQ8A(NM_020247.5):c.1188C>T (p.D396=) - ADCK3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188C>T r.(?) p.(Asp396=) Unknown - likely benign g.227171487C>T - COQ8A(NM_020247.4):c.1188C>T (p.D396=), COQ8A(NM_020247.5):c.1188C>T (p.D396=) - ADCK3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1199G>A r.(?) p.(Arg400Gln) Unknown - VUS g.227171498G>A g.226983797G>A ADCK3(NM_020247.4):c.1199G>A (p.R400Q), COQ8A(NM_020247.5):c.1199G>A (p.(Arg400Gln)) - ADCK3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1199G>A r.(?) p.(Arg400Gln) Unknown - VUS g.227171498G>A - ADCK3(NM_020247.4):c.1199G>A (p.R400Q), COQ8A(NM_020247.5):c.1199G>A (p.(Arg400Gln)) - ADCK3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1205T>C r.(?) p.(Leu402Pro) Unknown - pathogenic g.227171504T>C g.226983803T>C - - ADCK3_000039 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
?/. - c.1215G>A r.(?) p.(Glu405=) Unknown - VUS g.227171514G>A g.226983813G>A COQ8A(NM_020247.4):c.1215G>A (p.E405=) - ADCK3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1228C>T r.(?) p.(Arg410Ter) Unknown - VUS g.227171527C>T g.226983826C>T ADCK3(NM_020247.4):c.1228C>T (p.(Arg410Ter)) - ADCK3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1229G>A r.(?) p.(Arg410Gln) Unknown - VUS g.227171528G>A - COQ8A(NM_020247.4):c.1229G>A (p.R410Q) - ADCK3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286A>G r.(?) p.Tyr429Cys Unknown ACMG VUS g.227171824A>G g.226984123A>G - - ADCK3_000041 recessive carrier, no secon variant detected; reported in Horvath (2012) J Neurol Neurosurg Psychiatry 83: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. - - rs144147839 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+?/. - c.1288G>A r.(?) p.(Val430Met) Unknown ACMG likely pathogenic g.227171826G>A - - - ADCK3_000079 - - - - Unknown - - - - - DNA SEQ-NG - - SIDS SIDS022 - - F - Switzerland Europe 00y09m - - - 1 Cordula Haas
-?/. - c.1378A>G r.(?) p.(Ser460Gly) Unknown - likely benign g.227171916A>G - COQ8A(NM_020247.5):c.1378A>G (p.(Ser460Gly)) - ADCK3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1396del r.(?) p.(Glu466ArgfsTer11) Unknown - likely pathogenic g.227171934del g.226984233del - - ADCK3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1398+1_1398+5dup r.spl? p.? Unknown - VUS g.227171937_227171941dup - COQ8A(NM_020247.4):c.1398_1399insGTTTG (p.I467Vfs*2) - ADCK3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1399-17C>T r.(=) p.(=) Unknown - likely benign g.227172232C>T - COQ8A(NM_020247.5):c.1399-17C>T - ADCK3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1399-12C>T r.(=) p.(=) Unknown - likely benign g.227172237C>T - COQ8A(NM_020247.5):c.1399-12C>T - ADCK3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1440C>T r.(?) p.(Phe480=) Unknown - benign g.227172290C>T g.226984589C>T COQ8A(NM_020247.4):c.1440C>T (p.F480=), COQ8A(NM_020247.5):c.1440C>T (p.F480=) - ADCK3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1440C>T r.(?) p.(Phe480=) Unknown - benign g.227172290C>T g.226984589C>T COQ8A(NM_020247.4):c.1440C>T (p.F480=), COQ8A(NM_020247.5):c.1440C>T (p.F480=) - ADCK3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1440C>T r.(?) p.(Phe480=) Unknown - benign g.227172290C>T g.226984589C>T COQ8A(NM_020247.4):c.1440C>T (p.F480=), COQ8A(NM_020247.5):c.1440C>T (p.F480=) - ADCK3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1440C>T r.(?) p.(Phe480=) Unknown - benign g.227172290C>T g.226984589C>T COQ8A(NM_020247.4):c.1440C>T (p.F480=), COQ8A(NM_020247.5):c.1440C>T (p.F480=) - ADCK3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1471T>A r.(?) p.(Trp491Arg) Parent #2 - VUS g.227172321T>A g.226984620T>A - - ADCK3_000082 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED3374.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
?/. - c.1486T>C r.(?) p.(Tyr496His) Unknown - VUS g.227172336T>C g.226984635T>C COQ8A(NM_020247.4):c.1486T>C (p.Y496H) - ADCK3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1532C>T r.(?) p.(Thr511Met) Unknown - VUS g.227172602C>T g.226984901C>T - - ADCK3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1568T>C r.(?) p.(Ile523Thr) Unknown - VUS g.227172638T>C - COQ8A(NM_020247.5):c.1568T>C (p.(Ile523Thr)) - ADCK3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1571A>G r.(?) p.(Gln524Arg) Unknown - VUS g.227172641A>G g.226984940A>G COQ8A(NM_020247.4):c.1571A>G (p.Q524R) - ADCK3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1573-20C>G r.(=) p.(=) Unknown - benign g.227172935C>G g.226985234C>G ADCK3(NM_020247.4):c.1573-20C>G, COQ8A(NM_020247.5):c.1573-20C>G - ADCK3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1573-20C>G r.(=) p.(=) Unknown - benign g.227172935C>G g.226985234C>G ADCK3(NM_020247.4):c.1573-20C>G, COQ8A(NM_020247.5):c.1573-20C>G - ADCK3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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