Full data view for gene COQ4

Information The variants shown are described using the NM_016035.3 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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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.-13089C>T r.(?) p.(=) Unknown - VUS g.131072049C>T g.128309770C>T TRUB2(NM_015679.3):c.776G>A (p.R259H) - TRUB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1165C>T r.(?) p.(=) Unknown - likely benign g.131083973C>T g.128321694C>T TRUB2(NM_015679.1):c.146G>A (p.(Arg49His)) - COQ4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.131085138A>G - COQ4(NM_016035.4):c.1A>G (p.M1?) - COQ4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>T r.(?) p.? Unknown - VUS g.131085138A>T - COQ4(NM_016035.5):c.1A>T (p.(Met1?)) - COQ4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.23_33del r.(?) p.(Val8AlafsTer19) Maternal (confirmed) - pathogenic (recessive) g.131085160_131085170del g.128322881_128322891del 23_33del11 - COQ4_000025 - PubMed: Sondheimer 2017, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat;Fam26Pat31 PubMed: Sondheimer 2017, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - - - 4m - - - 1 Johan den Dunnen
-?/. - c.32G>C r.(?) p.(Arg11Pro) Unknown - likely benign g.131085169G>C - COQ4(NM_016035.4):c.32G>C (p.R11P) - COQ4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48G>C r.(?) p.(Pro16=) Unknown - likely benign g.131085185G>C - COQ4(NM_016035.4):c.48G>C (p.P16=) - COQ4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59G>A r.(?) p.(Arg20Gln) Unknown - likely benign g.131085196G>A g.128322917G>A COQ4(NM_016035.5):c.59G>A (p.(Arg20Gln)) - COQ4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.103G>A r.(?) p.(Gly35Ser) Unknown - VUS g.131085327G>A g.128323048G>A COQ4(NM_016035.5):c.103G>A (p.(Gly35Ser)) - COQ4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.155T>C r.(?) p.(Leu52Ser) Paternal (confirmed) - pathogenic g.131085379T>C g.128323100T>C - - COQ4_000004 - PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - COQ10D Fam3PatII1;Fam20Pat23 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Austria - - - - - 2 Johan den Dunnen
+/. - c.155T>C r.(?) p.(Leu52Ser) Paternal (confirmed) - pathogenic (recessive) g.131085379T>C g.128323100T>C - - COQ4_000004 - PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - COQ10D Fam3PatII3;Fam20Pat24 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 sister F no Austria - 00y00m02d - - - 1 Johan den Dunnen
+/. - c.164G>T r.(?) p.(Gly55Val) Both (homozygous) - pathogenic (recessive) g.131085388G>T g.128323109G>T - - COQ4_000026 - PubMed: Caglayan 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D FamPatIV1;Fam16Pat17 PubMed: Caglayan 2019, PubMed: Laugwitz 2022 4-generation family, affectd sister/brother M yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.164G>T r.(?) p.(Gly55Val) Both (homozygous) - pathogenic (recessive) g.131085388G>T g.128323109G>T - - COQ4_000026 - PubMed: Caglayan 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D FamPatIV3;Fam16Pat18 PubMed: Caglayan 2019, PubMed: Laugwitz 2022 brother F yes Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.190C>T r.(?) p.(Pro64Ser) Both (homozygous) - pathogenic g.131085414C>T g.128323135C>T - - COQ4_000006 - PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015 - - Germline yes - - - - DNA SEQ - - COQ10D Fam4PatII1;Fam21Pat25 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - >18y - - - 1 Johan den Dunnen
+/. - c.190C>T r.(?) p.(Pro64Ser) Both (homozygous) - pathogenic (recessive) g.131085414C>T g.128323135C>T - - COQ4_000006 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam8Pat8 PubMed: Laugwitz 2022 family, 2 affected F no Italy - - - - - 2 Johan den Dunnen
+/. - c.190C>T r.(?) p.(Pro64Ser) Both (homozygous) - pathogenic (recessive) g.131085414C>T g.128323135C>T - - COQ4_000006 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam8Pat9 PubMed: Laugwitz 2022 sib F no Italy - - - - - 1 Johan den Dunnen
+/. - c.197_198delinsAA r.(?) p.(Arg66Gln) Paternal (confirmed) - pathogenic (recessive) g.131085421_131085422delinsAA g.128323142_128323143delinsAA 197_198delGCinsAA - COQ4_000027 - PubMed: Chung 2015, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam3Pat1;Fam24Pat28 PubMed: Chung 2015, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - white 19m - - - 2 Johan den Dunnen
+/. - c.197_198delinsAA r.(?) p.(Arg66Gln) Paternal (confirmed) - pathogenic (recessive) g.131085421_131085422delinsAA g.128323142_128323143delinsAA 198_198delGCinsAA - COQ4_000027 - PubMed: Chung 2015, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam3Pat2;Fam24Pat29 PubMed: Chung 2015, PubMed: Laugwitz 2022 sister F - - white 70d - - - 1 Johan den Dunnen
+?/. - c.202G>C r.(?) p.(Asp68His) Parent #1 ACMG likely pathogenic (recessive) g.131085426G>C g.128323147G>C - - COQ4_000016 - - - - Germline - - - - - DNA SEQ-NG - WES seizures Pat110 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.202G>C r.(?) p.(Asp68His) Maternal (confirmed) - pathogenic (recessive) g.131085426G>C g.128323147G>C - - COQ4_000016 - PubMed: Chung 2015, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam3Pat1;Fam24Pat28 PubMed: Chung 2015, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - white 19m - - - 2 Johan den Dunnen
+/. - c.202G>C r.(?) p.(Asp68His) Maternal (confirmed) - pathogenic (recessive) g.131085426G>C g.128323147G>C - - COQ4_000016 - PubMed: Chung 2015, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam3Pat2;Fam24Pat29 PubMed: Chung 2015, PubMed: Laugwitz 2022 sister F - - white 70d - - - 1 Johan den Dunnen
+?/. - c.230C>T r.(?) p.(Thr77Ile) Unknown - likely pathogenic g.131087449C>T g.128325170C>T - - COQ4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.230C>T r.(?) p.(Thr77Ile) Both (homozygous) - pathogenic (recessive) g.131087449C>T g.128325170C>T - - COQ4_000014 - PubMed: Bosch 2018, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat1;Fam17Pat19 PubMed: Bosch 2018, PubMed: Laugwitz 2022 4-generation family, affected brother/sister M yes - - - - - - 2 Johan den Dunnen
+/. - c.230C>T r.(?) p.(Thr77Ile) Both (homozygous) - pathogenic (recessive) g.131087449C>T g.128325170C>T - - COQ4_000014 - PubMed: Bosch 2018, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat2;Fam17Pat20 PubMed: Bosch 2018, PubMed: Laugwitz 2022 sister F yes - - - - - - 1 Johan den Dunnen
+/. - c.245T>A r.(?) p.(Leu82Gln) Paternal (confirmed) - pathogenic (recessive) g.131087464T>A g.128325185T>A - - COQ4_000028 - PubMed: Chung 2015, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam1Pat1;Fam22Pat26 PubMed: Chung 2015, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - white;Hispanic 2m - - - 2 Johan den Dunnen
+/. - c.245T>A r.(?) p.(Leu82Gln) Paternal (confirmed) - pathogenic (recessive) g.131087464T>A g.128325185T>A - - COQ4_000028 - PubMed: Chung 2015, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam1Pat2;Fam22Pat26b PubMed: Chung 2015, PubMed: Laugwitz 2022 sister F - - white;Hispanic 3d - - - 1 Johan den Dunnen
+?/. - c.311G>T r.(?) p.(Arg104Leu) Paternal (confirmed) - VUS g.131088069G>T g.128325790G>T - - COQ4_000024 - PubMed: Sondheimer 2017, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat;Fam26Pat31 PubMed: Sondheimer 2017, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - - - 4m - - - 1 Johan den Dunnen
+?/. - c.356C>T r.(?) p.(Pro119Leu) Paternal (confirmed) - VUS g.131088114C>T g.128325835C>T - - COQ4_000023 - PubMed: Sondheimer 2017, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat;Fam26Pat31 PubMed: Sondheimer 2017, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - - - 4m - - - 1 Johan den Dunnen
-?/. - c.357G>T r.(?) p.(Pro119=) Unknown - likely benign g.131088115G>T - COQ4(NM_016035.4):c.357G>T (p.P119=) - COQ4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam12Pat13 PubMed: Laugwitz 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Parent #1 - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam13Pat14 PubMed: Laugwitz 2022 - F - - - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Parent #1 - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam14Pat15 PubMed: Laugwitz 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam15Pat16 PubMed: Laugwitz 2022 - F yes India Hindu Maharashtrian 6y - - - 2 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam15Pat16b PubMed: Laugwitz 2022 - M yes India Hindu Maharashtrian 4y - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Maternal (confirmed) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat1;Fam27Pat32 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - 8m - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Parent #1 - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat2;Fam28Pat33 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - 2d - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat3;Fam29Pat34 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Parent #1 - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat4;Fam30Pat35 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Parent #1 - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat5;Fam30Pat36 PubMed: Yu 2019, PubMed: Laugwitz 2022 sister F - China - 1y - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat7;Fam32Pat38 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - China - 3y6m - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Paternal (confirmed) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat8;Fam33Pat39 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat9;Fam34Pat40 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat10;Fam35Pat41 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat11;Fam35Pat42 PubMed: Yu 2019, PubMed: Laugwitz 2022 sister F - China - 20m - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Lu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D FamPatII1;Fam36Pat43 PubMed: Lu 2019, PubMed: Laugwitz 2022 2-generation family, affected brother/sister M - China - 5m - - - 2 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Lu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D FamPatII2;Fam36Pat44 PubMed: Lu 2019, PubMed: Laugwitz 2022 sister F - China - - - - - 1 Johan den Dunnen
+/. - c.371G>T r.(?) p.(Gly124Val) Parent #2 - pathogenic (recessive) g.131088129G>T g.128325850G>T - - COQ4_000030 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam13Pat14 PubMed: Laugwitz 2022 - F - - - - - - - 1 Johan den Dunnen
+/. - c.371G>T r.(?) p.(Gly124Val) Maternal (confirmed) - pathogenic (recessive) g.131088129G>T g.128325850G>T - - COQ4_000030 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat8;Fam33Pat39 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+?/. - c.376G>A r.(?) p.(Glu126Lys) Parent #2 ACMG VUS g.131088134G>A - - - COQ4_000037 ACMG PM2, PP2 PubMed: Jurkute 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP Fam10 PubMed: Jurkute 2022 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.402+1G>C r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.131088161G>C g.128325882G>C - - COQ4_000031 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat1;Fam27Pat32 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - 8m - - - 1 Johan den Dunnen
+/. - c.402+1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.131088161G>C g.128325882G>C - - COQ4_000031 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat2;Fam28Pat33 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - 2d - - - 1 Johan den Dunnen
+/. - c.402+1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.131088161G>C g.128325882G>C - - COQ4_000031 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat4;Fam30Pat35 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.402+1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.131088161G>C g.128325882G>C - - COQ4_000031 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat5;Fam30Pat36 PubMed: Yu 2019, PubMed: Laugwitz 2022 sister F - China - 1y - - - 1 Johan den Dunnen
+/. - c.402+1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.131088161G>C g.128325882G>C - - COQ4_000031 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat6;Fam31Pat37 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. 5 c.421C>T r.(?) p.(Arg141*) Paternal (confirmed) - pathogenic g.131094450C>T g.128332171C>T - - COQ4_000003 - PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015 - - Germline yes - - - - DNA SEQ - - COQ10D Fam2PatII1;Fam19Pat22 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - 00y00m01d - - - 1 Johan den Dunnen
+/. 5 c.433C>G r.(?) p.(Arg145Gly) Both (homozygous) - pathogenic g.131094462C>G g.128332183C>G - - COQ4_000001 exome sequencing PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - COQ10D Fam1PatII3;Fam18Pat21 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents M no Italy - 00y00m01d - - - 2 Johan den Dunnen
+?/. - c.437T>G r.(?) p.(Phe146Cys) Both (homozygous) - likely pathogenic g.131094466T>G g.128332187T>G - - COQ4_000009 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.437T>G r.(?) p.(Phe146Cys) Both (homozygous) - pathogenic (recessive) g.131094466T>G g.128332187T>G - - COQ4_000009 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam3Pat3 PubMed: Laugwitz 2022 - F yes Iran - - - - - 1 Johan den Dunnen
+/. - c.437T>G r.(?) p.(Phe146Cys) Both (homozygous) - pathogenic (recessive) g.131094466T>G g.128332187T>G - - COQ4_000009 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam6Pat6 PubMed: Laugwitz 2022 - F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.437T>G r.(?) p.(Phe146Cys) Both (homozygous) - pathogenic (recessive) g.131094466T>G g.128332187T>G - - COQ4_000009 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam9Pat10 PubMed: Laugwitz 2022 - M yes - Assyria;Suryoyo/Dutch - - - - 1 Johan den Dunnen
+/. - c.437T>G r.(?) p.(Phe146Cys) Both (homozygous) - pathogenic (recessive) g.131094466T>G g.128332187T>G - - COQ4_000009 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam11Pat12 PubMed: Laugwitz 2022 - F yes - Arab - - - - 1 Johan den Dunnen
+?/. - c.458C>T r.(?) p.(Ala153Val) Unknown - likely pathogenic g.131094487C>T g.128332208C>T COQ4(NM_016035.5):c.458C>T (p.A153V) - COQ4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.458C>T r.(?) p.(Ala153Val) Both (homozygous) - likely pathogenic g.131094487C>T g.128332208C>T - - COQ4_000007 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+/. - c.458C>T r.(?) p.(Ala153Val) Both (homozygous) - pathogenic (recessive) g.131094487C>T g.128332208C>T - - COQ4_000007 - PubMed: Froukh 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD TF034 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - 1 Johan den Dunnen
+/. - c.458C>T r.(?) p.(Ala153Val) Both (homozygous) - pathogenic (recessive) g.131094487C>T g.128332208C>T - - COQ4_000007 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam1Pat1 PubMed: Laugwitz 2022 - F yes Iraq - - - - - 1 Johan den Dunnen
+/. - c.458C>T r.(?) p.(Ala153Val) Both (homozygous) - pathogenic (recessive) g.131094487C>T g.128332208C>T - - COQ4_000007 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam2Pat2 PubMed: Laugwitz 2022 - F yes - Yemenite - - - - 1 Johan den Dunnen
+/. - c.458C>T r.(?) p.(Ala153Val) Parent #2 - pathogenic (recessive) g.131094487C>T g.128332208C>T - - COQ4_000007 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam14Pat15 PubMed: Laugwitz 2022 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.469C>A r.(?) p.(Gln157Lys) Parent #2 ACMG likely pathogenic (recessive) g.131094498C>A g.128332219C>A - - COQ4_000017 - - - - Germline - - - - - DNA SEQ-NG - WES seizures Pat110 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.469C>A r.(?) p.(Gln157Lys) Parent #1 - pathogenic (recessive) g.131094498C>A g.128332219C>A - - COQ4_000017 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam4Pat4 PubMed: Laugwitz 2022 - F no Romania - - - - - 1 Johan den Dunnen
+/. - c.469C>A r.(?) p.(Gln157Lys) Both (homozygous) - pathogenic (recessive) g.131094498C>A g.128332219C>A - - COQ4_000017 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam5Pat5 PubMed: Laugwitz 2022 - F no Albania - - - - - 1 Johan den Dunnen
+/. - c.469C>A r.(?) p.(Gln157Lys) Both (homozygous) - pathogenic (recessive) g.131094498C>A g.128332219C>A - - COQ4_000017 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam10Pat11 PubMed: Laugwitz 2022 - F yes Albania Albania;Kosovar - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Maternal (confirmed) - pathogenic (recessive) g.131094502G>A g.128332223G>A - - COQ4_000032 - PubMed: Chung 2015, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam1Pat1;Fam22Pat26 PubMed: Chung 2015, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - white;Hispanic 2m - - - 2 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Maternal (confirmed) - pathogenic (recessive) g.131094502G>A g.128332223G>A - - COQ4_000032 - PubMed: Chung 2015, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam1Pat2;Fam22Pat26b PubMed: Chung 2015, PubMed: Laugwitz 2022 sister F - - white;Hispanic 3d - - - 1 Johan den Dunnen
-/. - c.483G>C r.(?) p.(Glu161Asp) Unknown - benign g.131094512G>C g.128332233G>C COQ4(NM_016035.3):c.483G>C (p.(Glu161Asp)), COQ4(NM_016035.4):c.483G>C (p.E161D) - COQ4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483G>C r.(?) p.(Glu161Asp) Unknown - likely benign g.131094512G>C g.128332233G>C COQ4(NM_016035.3):c.483G>C (p.(Glu161Asp)), COQ4(NM_016035.4):c.483G>C (p.E161D) - COQ4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.511G>A r.(?) p.(Gly171Arg) Unknown - likely benign g.131094540G>A - COQ4(NM_016035.5):c.511G>A (p.(Gly171Arg)) - COQ4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.521_523del r.(?) p.(Thr174del) Maternal (confirmed) - pathogenic g.131094550_131094552del g.128332271_128332273del 521_523delCCA - COQ4_000005 - PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - COQ10D Fam3PatII1;Fam20Pat23 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Austria - - - - - 2 Johan den Dunnen
+/. - c.521_523del r.(?) p.(Thr174del) Maternal (confirmed) - pathogenic (recessive) g.131094550_131094552del g.128332271_128332273del 521_523delCCA - COQ4_000005 - PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - COQ10D Fam3PatII3;Fam20Pat24 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 sister F no Austria - 00y00m02d - - - 1 Johan den Dunnen
+/. - c.550T>C r.(?) p.(Trp184Arg) Parent #1 - pathogenic (recessive) g.131095146T>C g.128332867T>C - - COQ4_000033 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat6;Fam31Pat37 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.577C>T r.(?) p.(Pro193Ser) Parent #1 - pathogenic (recessive) g.131095173C>T g.128332894C>T - - COQ4_000034 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam7Pat7 PubMed: Laugwitz 2022 - M no - white - - - - 1 Johan den Dunnen
-?/. - c.614G>A r.(?) p.(Arg205Gln) Unknown - likely benign g.131095210G>A g.128332931G>A COQ4(NM_016035.3):c.614G>A (p.(Arg205Gln)), COQ4(NM_016035.4):c.614G>A (p.R205Q) - COQ4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.614G>A r.(?) p.(Arg205Gln) Unknown - likely benign g.131095210G>A - COQ4(NM_016035.3):c.614G>A (p.(Arg205Gln)), COQ4(NM_016035.4):c.614G>A (p.R205Q) - COQ4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.627-20T>C r.(=) p.(=) Unknown - likely benign g.131095733T>C - COQ4(NM_016035.4):c.627-20T>C - COQ4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.633G>C r.(?) p.(Leu211=) Unknown - likely benign g.131095759G>C - COQ4(NM_016035.4):c.633G>C (p.L211=) - COQ4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.692G>A r.(?) p.(Cys231Tyr) Parent #1 ACMG VUS g.131095818G>A - - - COQ4_000036 ACMG PM2, PP2, PP3 PubMed: Jurkute 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP Fam10 PubMed: Jurkute 2022 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 7 c.718C>T r.(?) p.(Arg240Cys) Maternal (confirmed) - pathogenic g.131095844C>T g.128333565C>T - - COQ4_000002 - PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015 - rs143441644 Germline yes - - - - DNA SEQ - - COQ10D Fam2PatII1;Fam19Pat22 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - 00y00m01d - - - 1 Johan den Dunnen
+/. - c.718C>T r.(?) p.(Arg240Cys) Both (homozygous) - pathogenic (recessive) g.131095844C>T g.128333565C>T - - COQ4_000002 - PubMed: Chung 2015, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam2;Fam23Pat27 PubMed: Chung 2015, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - - Jew-Ashkenazi 4d - - - 1 Johan den Dunnen
+/. - c.718C>T r.(?) p.(Arg240Cys) Both (homozygous) - pathogenic (recessive) g.131095844C>T g.128333565C>T - - COQ4_000002 - PubMed: Chung 2015, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam4;Fam25Pat30 PubMed: Chung 2015, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - Jew-Ashkenazi 49d - - - 1 Johan den Dunnen
+/. - c.718C>T r.(?) p.(Arg240Cys) Parent #2 - pathogenic (recessive) g.131095844C>T g.128333565C>T - - COQ4_000002 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam4Pat4 PubMed: Laugwitz 2022 - F no Romania - - - - - 1 Johan den Dunnen
+/. - c.718C>T r.(?) p.(Arg240Cys) Parent #2 - pathogenic (recessive) g.131095844C>T g.128333565C>T - - COQ4_000002 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam7Pat7 PubMed: Laugwitz 2022 - M no - white - - - - 1 Johan den Dunnen
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