Full data view for gene C5orf42

NOTE: gene name changed from C5orf42 to CPLANE1
Information The variants shown are described using the transcript reference sequence.

582 entries on 6 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.? r.? p.? Parent #2 - likely pathogenic g.? - NM_023073.3:c.1165G>A (Ala389Thr) ?? - C5orf42_000023 - PubMed: Kroes 2016 - - Unknown ? - - - - DNA SEQ-NG-S blood - JBTS1 1-53 Pat7 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
-/. - c.81+20C>T r.(=) p.(=) Unknown - benign g.37247700G>A g.37247598= C5orf42(NM_023073.3):c.81+20C>T, CPLANE1(NM_023073.4):c.81+20C>T - C5orf42_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.81+20C>T r.(=) p.(=) Unknown - benign g.37247700G>A g.37247598= C5orf42(NM_023073.3):c.81+20C>T, CPLANE1(NM_023073.4):c.81+20C>T - C5orf42_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82-10C>T r.(=) p.(=) Unknown - likely benign g.37245957G>A - CPLANE1(NM_023073.4):c.82-10C>T - C5orf42_000314 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.118A>G r.(?) p.(Ile40Val) Unknown - likely benign g.37245911T>C g.37245809T>C C5orf42(NM_023073.3):c.118A>G (p.I40V) - C5orf42_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336C>T r.(?) p.(Val112=) Unknown - likely benign g.37245582G>A g.37245480G>A C5orf42(NM_023073.3):c.336C>T (p.V112=) - C5orf42_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.338-86T>A r.(=) p.(=) Unknown - benign g.37244795A>T g.37244693A>T CPLANE1(NM_023073.3):c.338-86T>A - C5orf42_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.424G>A r.(?) p.(Glu142Lys) Parent #2 - pathogenic g.37244623C>T g.37244521C>T NM_023073.3:c.424G>A - C5orf42_000267 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW297-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.424G>A r.(?) p.(Glu142Lys) Parent #2 - pathogenic g.37244623C>T g.37244521C>T NM_023073.3:c.424G>A - C5orf42_000267 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW305-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.455C>T r.(?) p.(Ser152Phe) Unknown - likely pathogenic g.37244592G>A g.37244490G>A c.455C>T; p.S152F - C5orf42_000275 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 528 PubMed: Brooks 2018 family 26 M - United States - - - - - 1 LOVD
+/. 5 c.455C>T r.(?) p.(Ser152Phe) Unknown - pathogenic g.37244592G>A - c.455C>T - C5orf42_000275 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 528 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
?/. - c.474G>A r.(?) p.(Ala158=) Unknown - VUS g.37244573C>T g.37244471C>T CPLANE1(NM_023073.3):c.474G>A (p.A158=) - C5orf42_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.474G>A r.(?) p.(Ala158=) Unknown - VUS g.37244573C>T g.37244471C>T CPLANE1(NM_023073.3):c.474G>A (p.A158=) - C5orf42_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.478C>T r.(?) p.(Arg160Trp) Unknown - VUS g.37244569G>A g.37244467G>A C5orf42(NM_023073.3):c.478C>T (p.R160W) - C5orf42_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481T>G r.(?) p.(Trp161Gly) Unknown - VUS g.37244566A>C g.37244464A>C c.481T>G, p.Trp161Gly - C5orf42_000283 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2954_004539 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 5 c.493del r.(?) p.(Ile165Tyrfs*17) Parent #2 - likely pathogenic g.37244554del g.37244452del - - C5orf42_000012 - PubMed: Kroes 2016 - - Germline ? - - - - DNA SEQ-NG-S blood - JBTS1 1-42 Pat6 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
+/. 5 c.493del r.(?) p.(Ile165Tyrfs*17) Paternal (confirmed) - pathogenic g.37244554del g.37244452del - - C5orf42_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - JBTS - - - M - - - - - - - 1 Anita Rauch
+/. - c.493del r.(?) p.(Ile165Tyrfs*17) Parent #1 - pathogenic g.37244554del g.37244452del NM_023073.3:c.493delA - C5orf42_000012 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW034-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.493del r.(?) p.(Ile165Tyrfs*17) Parent #1 - pathogenic g.37244554del g.37244452del NM_023073.3:c.493delA - C5orf42_000012 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW216-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.493del r.(?) p.(Ile165Tyrfs*17) Parent #2 - pathogenic g.37244554del g.37244452del NM_023073.3:c.493delA - C5orf42_000012 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW007-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.493del r.(?) p.(Ile165Tyrfs*17) Unknown - likely pathogenic g.37244554del - C5orf42(NM_023073.3):c.493del (p.(Ile165TyrfsTer17)) - C5orf42_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.493del r.(493del) p.(Ile165TyrfsTer17) Parent #2 - pathogenic g.37244554del g.37244452del Ile165AsnfsTer17 - C5orf42_000012 - PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - DNA SEQ-NG - - JBTS COR445 PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - - - - - - - - 1 Fulvio D'Abrusco
+/. - c.509del r.(?) p.(Leu171Serfs*11) Parent #1 - pathogenic g.37244538del g.37244436del NM_023073.3:c.510delT - C5orf42_000266 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW300-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.509dup r.(?) p.(Leu171Serfs*8) Parent #1 - pathogenic g.37244538dup g.37244436dup NM_023073.3:c.510dupT - C5orf42_000265 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW273-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. 5 c.510dup r.(?) p.(Leu171Serfs*8) Unknown - likely pathogenic g.37244538dup g.37244436dup c.510_511insT; p.L171Sfs*8 - C5orf42_000265 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 523 PubMed: Brooks 2018 family 20 F - United States - - - - - 1 LOVD
+/. 5 c.510dup r.(?) p.(Leu171Serfs*8) Unknown - pathogenic g.37244537dup - c.510dup - C5orf42_000265 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 523 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
-?/. - c.525C>T r.(?) p.(Thr175=) Unknown - likely benign g.37244522G>A g.37244420G>A C5orf42(NM_023073.3):c.525C>T (p.T175=) - C5orf42_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.534del r.(?) p.(Glu179Lysfs*3) Unknown - pathogenic g.37244515del - CPLANE1(NM_023073.3):c.534delA (p.E179Kfs*3) - C5orf42_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.589C>T r.(?) p.(=) Unknown - VUS g.37243203G>A - CPLANE1(NM_001384732.1):c.589C>T (p.(Leu197=)) - C5orf42_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.608A>G r.(?) p.(Tyr203Cys) Parent #1 - VUS g.37243184T>C g.37243082T>C - - C5orf42_000223 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144969169 Germline - 10/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
?/. - c.626A>G r.(?) p.(Lys209Arg) Unknown - VUS g.37243166T>C g.37243064T>C C5orf42(NM_023073.3):c.626A>G (p.(Lys209Arg)), CPLANE1(NM_023073.3):c.626A>G (p.K209R), CPLANE1(NM_023073.4):c.626A>G (p.K209R) - C5orf42_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626A>G r.(?) p.(Lys209Arg) Unknown - likely benign g.37243166T>C g.37243064T>C C5orf42(NM_023073.3):c.626A>G (p.(Lys209Arg)), CPLANE1(NM_023073.3):c.626A>G (p.K209R), CPLANE1(NM_023073.4):c.626A>G (p.K209R) - C5orf42_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626A>G r.(?) p.(Lys209Arg) Unknown - likely benign g.37243166T>C g.37243064T>C C5orf42(NM_023073.3):c.626A>G (p.(Lys209Arg)), CPLANE1(NM_023073.3):c.626A>G (p.K209R), CPLANE1(NM_023073.4):c.626A>G (p.K209R) - C5orf42_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647G>A r.(?) p.(Arg216Gln) Unknown - VUS g.37243145C>T - CPLANE1(NM_023073.3):c.647G>A (p.R216Q) - C5orf42_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.662T>C r.(?) p.(Val221Ala) Unknown - likely benign g.37243130A>G g.37243028A>G C5orf42(NM_023073.3):c.662T>C (p.V221A, p.(Val221Ala)), CPLANE1(NM_023073.3):c.662T>C (p.V221A) - C5orf42_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.662T>C r.(?) p.(Val221Ala) Unknown - likely benign g.37243130A>G g.37243028A>G C5orf42(NM_023073.3):c.662T>C (p.V221A, p.(Val221Ala)), CPLANE1(NM_023073.3):c.662T>C (p.V221A) - C5orf42_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.662T>C r.(?) p.(Val221Ala) Unknown - likely benign g.37243130A>G - C5orf42(NM_023073.3):c.662T>C (p.V221A, p.(Val221Ala)), CPLANE1(NM_023073.3):c.662T>C (p.V221A) - C5orf42_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.663A>G r.(?) p.(Val221=) Unknown - benign g.37243129T>C g.37243027T>C CPLANE1(NM_023073.4):c.663A>G (p.V221=) - C5orf42_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i_8i c.(677+1_678-1)_(938+1_939-1)del r.(678_938del) p.? Parent #2 - likely pathogenic (recessive) g.(37231152_37238958)_(37239972_37243114)del g.(37231050_37238856)_(37239870_37243012)del del ex7-8 - C5orf42_000343 - PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - DNA SEQ-NG - - JBTS COR99 PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.692A>G r.(?) p.(His231Arg) Unknown - likely benign g.37239957T>C g.37239855T>C C5orf42(NM_023073.3):c.692A>G (p.H231R, p.(His231Arg)) - C5orf42_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.692A>G r.(?) p.(His231Arg) Unknown - likely benign g.37239957T>C g.37239855T>C C5orf42(NM_023073.3):c.692A>G (p.H231R, p.(His231Arg)) - C5orf42_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.817A>C r.(?) p.(Asn273His) Parent #2 - pathogenic g.37239832T>G g.37239730T>G NM_023073.3:c.817A>C - C5orf42_000264 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW300-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
-/. - c.834+15G>A r.(=) p.(=) Unknown - benign g.37239800C>T g.37239698C>T CPLANE1(NM_023073.4):c.834+15G>A - C5orf42_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.916G>A r.(?) p.(Val306Met) Unknown - VUS g.37238981C>T g.37238879C>T CPLANE1(NM_023073.4):c.916G>A (p.V306M) - C5orf42_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.964T>G r.(?) p.(Trp322Gly) Parent #2 - likely pathogenic g.37231126A>C g.37231024A>C - - C5orf42_000018 - PubMed: Kroes 2016 - - Unknown ? - - - - DNA SEQ-NG-S blood - JBTS1 2-57 Pat10 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
?/. - c.968C>T r.(?) p.(Thr323Met) Unknown - VUS g.37231122G>A g.37231020G>A C5orf42(NM_023073.3):c.968C>T (p.T323M) - C5orf42_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.968C>T r.(?) p.(Thr323Met) Parent #1 - VUS g.37231122G>A g.37231020G>A - - C5orf42_000126 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs373704405 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.968C>T r.(?) p.(Thr323Met) Parent #2 - pathogenic g.37231122G>A g.37231020G>A NM_023073.3:c.968C>T - C5orf42_000126 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW216-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. 9 c.986T>C r.(?) p.(Leu329Pro) Unknown - likely pathogenic g.37231104A>G - c.986T>C - C5orf42_000287 - PubMed: Enokizono 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 3 PubMed: Enokizono 2017 Ohba 2013 F - Japan - - - - - 1 LOVD
?/. - c.1096C>T r.(?) p.(Pro366Ser) Unknown - VUS g.37230994G>A g.37230892G>A C5orf42(NM_023073.3):c.1096C>T (p.P366S), CPLANE1(NM_001384732.1):c.1096C>T (p.(Pro366Ser)) - C5orf42_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1096C>T r.(?) p.(Pro366Ser) Unknown - VUS g.37230994G>A - C5orf42(NM_023073.3):c.1096C>T (p.P366S), CPLANE1(NM_001384732.1):c.1096C>T (p.(Pro366Ser)) - C5orf42_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1116G>T r.(?) p.(Thr372=) Unknown - likely benign g.37230974C>A g.37230872C>A CPLANE1(NM_023073.4):c.1116G>T (p.T372=) - C5orf42_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9i c.1121+187A>G r.(1121_1122ins1121+149_1121+205) p.(Arg374SerfsTer10) Parent #1 - pathogenic g.37230782T>C g.37230680T>C - - C5orf42_000330 ACMG PVS1, PM2, PM3, PP3, PS3; effect on RNA predicted from in vitro mini-gene splicing assay PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - DNA SEQ-NG - - JBTS COR445 PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - - - - - - - - 1 Fulvio D'Abrusco
?/. - c.1123C>T r.(?) p.(Pro375Ser) Unknown - VUS g.37227918G>A g.37227816G>A C5orf42(NM_023073.3):c.1123C>T (p.P375S) - C5orf42_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1125A>G r.(?) p.(Pro375=) Unknown - likely benign g.37227916T>C - CPLANE1(NM_023073.3):c.1125A>G (p.P375=) - C5orf42_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1136C>T r.(?) p.(Thr379Met) Unknown - benign g.37227905G>A g.37227803G>A C5orf42(NM_023073.3):c.1136C>T (p.T379M), CPLANE1(NM_023073.4):c.1136C>T (p.T379M) - C5orf42_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1136C>T r.(?) p.(Thr379Met) Unknown - likely benign g.37227905G>A - C5orf42(NM_023073.3):c.1136C>T (p.T379M), CPLANE1(NM_023073.4):c.1136C>T (p.T379M) - C5orf42_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1173T>G r.(?) p.(Ala391=) Unknown - benign g.37227868A>C g.37227766A>C CPLANE1(NM_023073.3):c.1173T>G (p.A391=), CPLANE1(NM_023073.4):c.1173T>G (p.A391=) - C5orf42_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1173T>G r.(?) p.(Ala391=) Unknown - likely benign g.37227868A>C g.37227766A>C CPLANE1(NM_023073.3):c.1173T>G (p.A391=), CPLANE1(NM_023073.4):c.1173T>G (p.A391=) - C5orf42_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1181G>T r.(?) p.(Ser394Ile) Unknown - VUS g.37227860C>A - CPLANE1(NM_023073.3):c.1181G>T (p.S394I) - C5orf42_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1222C>T r.(?) p.(Arg408Trp) Unknown - VUS g.37227819G>A g.37227717G>A C5orf42(NM_023073.3):c.1222C>T (p.R408W) - C5orf42_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1230del r.(?) p.(Tyr411Thrfs*25) Unknown - pathogenic g.37227813del - CPLANE1(NM_023073.3):c.1230delC (p.Y411Tfs*25) - C5orf42_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1271G>A r.(?) p.(Arg424Gln) Unknown - VUS g.37227770C>T g.37227668C>T C5orf42(NM_023073.3):c.1271G>A (p.R424Q) - C5orf42_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1282A>G r.(?) p.(Ser428Gly) Unknown - VUS g.37227759T>C g.37227657T>C CPLANE1(NM_023073.4):c.1282A>G (p.S428G) - C5orf42_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1312C>T r.(?) p.(Leu438Phe) Unknown - VUS g.37227729G>A g.37227627G>A C5orf42(NM_023073.3):c.1312C>T (p.L438F) - C5orf42_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1319T>C r.(?) p.(Leu440Pro) Unknown - VUS g.37227722A>G g.37227620A>G C5orf42(NM_023073.3):c.1319T>C (p.L440P), CPLANE1(NM_001384732.1):c.1319T>C (p.(Leu440Pro)) - C5orf42_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1319T>C r.(?) p.(Leu440Pro) Unknown - VUS g.37227722A>G - C5orf42(NM_023073.3):c.1319T>C (p.L440P), CPLANE1(NM_001384732.1):c.1319T>C (p.(Leu440Pro)) - C5orf42_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411C>G r.(?) p.(Leu471Val) Unknown - likely benign g.37227455G>C - CPLANE1(NM_023073.3):c.1411C>G (p.L471V) - C5orf42_000317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1456G>A r.(?) p.(Asp486Asn) Unknown - likely benign g.37227410C>T g.37227308C>T C5orf42(NM_023073.3):c.1456G>A (p.D486N, p.(Asp486Asn)) - C5orf42_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1456G>A r.(?) p.(Asp486Asn) Unknown - likely benign g.37227410C>T g.37227308C>T C5orf42(NM_023073.3):c.1456G>A (p.D486N, p.(Asp486Asn)) - C5orf42_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1597G>C r.(?) p.(Asp533His) Unknown - VUS g.37227100C>G g.37226998C>G C5orf42(NM_023073.3):c.1597G>C (p.D533H) - C5orf42_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1697T>C r.(?) p.(Ile566Thr) Unknown - likely benign g.37227000A>G g.37226898A>G C5orf42(NM_023073.3):c.1697T>C (p.I566T) - C5orf42_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1736C>T r.(?) p.(Ala579Val) Unknown - benign g.37226961G>A g.37226859G>A C5orf42(NM_023073.3):c.1736C>T (p.A579V), CPLANE1(NM_001384732.1):c.1736C>T (p.(Ala579Val)), CPLANE1(NM_023073.4):c.1736C>T (p.A579V) - C5orf42_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1736C>T r.(?) p.(Ala579Val) Unknown - benign g.37226961G>A g.37226859G>A C5orf42(NM_023073.3):c.1736C>T (p.A579V), CPLANE1(NM_001384732.1):c.1736C>T (p.(Ala579Val)), CPLANE1(NM_023073.4):c.1736C>T (p.A579V) - C5orf42_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1736C>T r.(?) p.(Ala579Val) Parent #1 - likely benign g.37226961G>A g.37226859G>A - - C5orf42_000116 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs191239995 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-/. - c.1736C>T r.(?) p.(Ala579Val) Unknown - benign g.37226961G>A - C5orf42(NM_023073.3):c.1736C>T (p.A579V), CPLANE1(NM_001384732.1):c.1736C>T (p.(Ala579Val)), CPLANE1(NM_023073.4):c.1736C>T (p.A579V) - C5orf42_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1737G>A r.(?) p.(Ala579=) Unknown - benign g.37226960C>T - CPLANE1(NM_023073.3):c.1737G>A (p.A579=) - C5orf42_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1755A>G r.(?) p.(Ser585=) Unknown - likely benign g.37226942T>C g.37226840T>C C5orf42(NM_023073.3):c.1755A>G (p.S585=), CPLANE1(NM_023073.3):c.1755A>G (p.S585=) - C5orf42_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1755A>G r.(?) p.(Ser585=) Unknown - likely benign g.37226942T>C - C5orf42(NM_023073.3):c.1755A>G (p.S585=), CPLANE1(NM_023073.3):c.1755A>G (p.S585=) - C5orf42_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1784T>G r.(?) p.(Leu595*) Parent #2 - pathogenic g.37226913A>C g.37226811A>C - - C5orf42_000022 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. - c.1784T>G r.(?) p.(Leu595*) Maternal (confirmed) - pathogenic g.37226913A>C g.37226811A>C - - C5orf42_000022 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.1784T>G r.(?) p.(Leu595Ter) Unknown - pathogenic g.37226913A>C g.37226811A>C CPLANE1(NM_023073.3):c.1784T>G (p.L595*) - C5orf42_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1784T>G r.(?) p.(Leu595*) Parent #2 - pathogenic g.37226913A>C g.37226811A>C NM_023073.3:c.1784T>G - C5orf42_000022 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW033-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.1784T>G r.(?) p.(Leu595*) Parent #2 - pathogenic g.37226913A>C g.37226811A>C NM_023073.3:c.1784T>G - C5orf42_000022 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW185-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.1784T>G r.(?) p.(Leu595*) Parent #2 - pathogenic g.37226913A>C g.37226811A>C NM_023073.3:c.1784T>G - C5orf42_000022 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW186-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.1784T>G r.(?) p.(Leu595*) Parent #2 - pathogenic g.37226913A>C g.37226811A>C NM_023073.3:c.1784T>G - C5orf42_000022 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW186-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.1784T>G r.(?) p.(Leu595*) Unknown - likely pathogenic g.37226913A>C g.37226811A>C c.1784T>G; p.L595* - C5orf42_000022 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 482 PubMed: Brooks 2018 family 28 F - United States - - - - - 1 LOVD
+?/. - c.1784T>G r.(?) p.(Leu595*) Unknown - likely pathogenic g.37226913A>C g.37226811A>C c.1784T>G; p.L595* - C5orf42_000022 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 481 PubMed: Brooks 2018 family 28 M - United States - - - - - 1 LOVD
+?/. - c.1784T>G r.(?) p.(Leu595*) Unknown - likely pathogenic g.37226913A>C g.37226811A>C c.1784T>G; p.L595* - C5orf42_000022 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 355 PubMed: Brooks 2018 family 19 F - United States - - - - - 1 LOVD
+/. 12 c.1784T>G r.(?) p.(Leu595*) Unknown - pathogenic g.37226913A>C - c.1784T>G - C5orf42_000022 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 481 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. 12 c.1784T>G r.(?) p.(Leu595*) Unknown - pathogenic g.37226913A>C - c.1784T>G - C5orf42_000022 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 482 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
?/. - c.1811A>T r.(?) p.(His604Leu) Unknown - VUS g.37226886T>A g.37226784T>A C5orf42(NM_023073.3):c.1811A>T (p.(His604Leu)) - C5orf42_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1812del r.(?) p.(Tyr607Thrfs*6) Parent #2 - pathogenic g.37226885del g.37226783del NM_023073.3:c.1819delT - C5orf42_000201 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW255-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.1819del r.(?) p.(Tyr607ThrfsTer6) Unknown - pathogenic g.37226885del - CPLANE1(NM_023073.3):c.1819delT (p.Y607Tfs*6) - C5orf42_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1819del r.(?) p.(Tyr607Thrfs*6) Unknown - likely pathogenic g.37226885del g.37226783del c.1819del; p.Y607Tfs*6 - C5orf42_000201 single heterozygous variant, no variant found on second allele PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 458 PubMed: Brooks 2018 family 81 F - United States - - - - - 1 LOVD
+?/. - c.1819del r.(?) p.(Tyr607Thrfs*6) Unknown - likely pathogenic g.37226885del g.37226783del c.1819del; p.Y607Tfs*6 - C5orf42_000201 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 471 PubMed: Brooks 2018 family 21 M - United States - - - - - 1 LOVD
+/. 12 c.1819del r.(?) p.(Tyr607Thrfs*6) Unknown - pathogenic g.37226878del - c.1819del - C5orf42_000201 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 458 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. 12 c.1819del r.(?) p.(Tyr607Thrfs*6) Unknown - pathogenic g.37226878del - c.1819del - C5orf42_000201 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 471 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. - c.1819del r.(?) p.(Tyr607ThrfsTer6) Paternal (confirmed) ACMG pathogenic (recessive) g.37226885del g.37226783del c.1819delT - C5orf42_000201 ACMG PVS1, PM2, PP3, PP5 PubMed: Marinakis 2021 - rs777686211 Germline - - - - - DNA SEQ, SEQ-NG - WES ? 20111 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
?/. - c.1839A>C r.(?) p.(Lys613Asn) Unknown - VUS g.37226858T>G g.37226756T>G - - C5orf42_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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