All variants in the C5orf42 gene

Information The variants shown are described using the NM_023073.3 transcript reference sequence.

476 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. - c.? r.? p.? - likely pathogenic g.? - NM_023073.3:c.1165G>A (Ala389Thr) ?? - C5orf42_000023 - PubMed: Kroes 2016 - - Unknown ? - - 0 - Sanne Savelberg
-/. - c.81+20C>T r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Groningen
-/. - c.81+20C>T r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.118A>G r.(?) p.(Ile40Val) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.336C>T r.(?) p.(Val112=) - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.338-86T>A r.(=) p.(=) - benign g.37244795A>T g.37244693A>T CPLANE1(NM_023073.3):c.338-86T>A - C5orf42_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.424G>A r.(?) p.(Glu142Lys) - pathogenic g.37244623C>T g.37244521C>T NM_023073.3:c.424G>A - C5orf42_000267 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.424G>A r.(?) p.(Glu142Lys) - pathogenic g.37244623C>T g.37244521C>T NM_023073.3:c.424G>A - C5orf42_000267 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+?/. - c.455C>T r.(?) p.(Ser152Phe) - likely pathogenic g.37244592G>A g.37244490G>A c.455C>T; p.S152F - C5orf42_000275 - PubMed: Brooks 2018 - - Germline ? - - 0 - LOVD
+/. 5 c.455C>T r.(?) p.(Ser152Phe) - pathogenic g.37244592G>A - c.455C>T - C5orf42_000275 - PubMed: Summers 2017 - - Germline - - - 0 - LOVD
?/. - c.474G>A r.(?) p.(Ala158=) - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.474G>A r.(?) p.(Ala158=) - 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 - - - - - VKGL-NL_Nijmegen
?/. - c.478C>T r.(?) p.(Arg160Trp) - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.481T>G r.(?) p.(Trp161Gly) - VUS g.37244566A>C g.37244464A>C c.481T>G, p.Trp161Gly - C5orf42_000283 heterozygous PubMed: Zampaglione-2020 - - Unknown ? - - 0 - LOVD
+?/. 5 c.493del r.(?) p.(Ile165Tyrfs*17) - likely pathogenic g.37244554del g.37244452del - - C5orf42_000012 - PubMed: Kroes 2016 - - Germline ? - - 0 - Sanne Savelberg
+/. 5 c.493del r.(?) p.(Ile165Tyrfs*17) - pathogenic g.37244554del g.37244452del - - C5orf42_000024 - - - - Germline - - - 0 - Anita Rauch
+/. - c.493del r.(?) p.(Ile165Tyrfs*17) - pathogenic g.37244554del g.37244452del NM_023073.3:c.493delA - C5orf42_000012 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.493del r.(?) p.(Ile165Tyrfs*17) - pathogenic g.37244554del g.37244452del NM_023073.3:c.493delA - C5orf42_000012 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.493del r.(?) p.(Ile165Tyrfs*17) - pathogenic g.37244554del g.37244452del NM_023073.3:c.493delA - C5orf42_000012 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.509del r.(?) p.(Leu171Serfs*11) - pathogenic g.37244538del g.37244436del NM_023073.3:c.510delT - C5orf42_000266 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.509dup r.(?) p.(Leu171Serfs*8) - pathogenic g.37244538dup g.37244436dup NM_023073.3:c.510dupT - C5orf42_000265 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+?/. 5 c.510dup r.(?) p.(Leu171Serfs*8) - likely pathogenic g.37244538dup g.37244436dup c.510_511insT; p.L171Sfs*8 - C5orf42_000265 - PubMed: Brooks 2018 - - Germline ? - - 0 - LOVD
+/. 5 c.510dup r.(?) p.(Leu171Serfs*8) - pathogenic g.37244537dup - c.510dup - C5orf42_000265 - PubMed: Summers 2017 - - Germline - - - 0 - LOVD
-?/. - c.525C>T r.(?) p.(Thr175=) - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.608A>G r.(?) p.(Tyr203Cys) - 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 - 0 - Mohammed Faruq
?/. - c.626A>G r.(?) p.(Lys209Arg) - VUS g.37243166T>C g.37243064T>C C5orf42(NM_023073.3):c.626A>G (p.K209R, p.(Lys209Arg)), CPLANE1(NM_023073.3):c.626A>G (p.K209R) - C5orf42_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.626A>G r.(?) p.(Lys209Arg) - likely benign g.37243166T>C g.37243064T>C C5orf42(NM_023073.3):c.626A>G (p.K209R, p.(Lys209Arg)), CPLANE1(NM_023073.3):c.626A>G (p.K209R) - C5orf42_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.626A>G r.(?) p.(Lys209Arg) - likely benign g.37243166T>C g.37243064T>C C5orf42(NM_023073.3):c.626A>G (p.K209R, p.(Lys209Arg)), CPLANE1(NM_023073.3):c.626A>G (p.K209R) - C5orf42_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.662T>C r.(?) p.(Val221Ala) - likely benign g.37243130A>G g.37243028A>G C5orf42(NM_023073.3):c.662T>C (p.V221A, p.(Val221Ala)) - C5orf42_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.662T>C r.(?) p.(Val221Ala) - likely benign g.37243130A>G g.37243028A>G C5orf42(NM_023073.3):c.662T>C (p.V221A, p.(Val221Ala)) - C5orf42_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.663A>G r.(?) p.(Val221=) - benign g.37243129T>C g.37243027T>C CPLANE1(NM_023073.3):c.663A>G (p.V221=) - C5orf42_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.692A>G r.(?) p.(His231Arg) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.692A>G r.(?) p.(His231Arg) - 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 - - - - - VKGL-NL_Leiden
+/. - c.817A>C r.(?) p.(Asn273His) - pathogenic g.37239832T>G g.37239730T>G NM_023073.3:c.817A>C - C5orf42_000264 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
-/. - c.834+15G>A r.(=) p.(=) - benign g.37239800C>T g.37239698C>T C5orf42(NM_023073.3):c.834+15G>A - C5orf42_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.916G>A r.(?) p.(Val306Met) - VUS g.37238981C>T g.37238879C>T C5orf42(NM_023073.3):c.916G>A (p.V306M) - C5orf42_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. 9 c.964T>G r.(?) p.(Trp322Gly) - likely pathogenic g.37231126A>C g.37231024A>C - - C5orf42_000018 - PubMed: Kroes 2016 - - Unknown ? - - 0 - Sanne Savelberg
?/. - c.968C>T r.(?) p.(Thr323Met) - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.968C>T r.(?) p.(Thr323Met) - 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 - 0 - Mohammed Faruq
+/. - c.968C>T r.(?) p.(Thr323Met) - pathogenic g.37231122G>A g.37231020G>A NM_023073.3:c.968C>T - C5orf42_000126 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+?/. 9 c.986T>C r.(?) p.(Leu329Pro) - likely pathogenic g.37231104A>G - c.986T>C - C5orf42_000287 - PubMed: Enokizono 2017 - - Germline - - - 0 - LOVD
?/. - c.1096C>T r.(?) p.(Pro366Ser) - VUS g.37230994G>A g.37230892G>A C5orf42(NM_023073.3):c.1096C>T (p.P366S) - C5orf42_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1116G>T r.(?) p.(Thr372=) - likely benign g.37230974C>A g.37230872C>A CPLANE1(NM_023073.3):c.1116G>T (p.T372=) - C5orf42_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1123C>T r.(?) p.(Pro375Ser) - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.1136C>T r.(?) p.(Thr379Met) - benign g.37227905G>A g.37227803G>A C5orf42(NM_023073.3):c.1136C>T (p.T379M) - C5orf42_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1173T>G r.(?) p.(Ala391=) - benign g.37227868A>C g.37227766A>C CPLANE1(NM_023073.3):c.1173T>G (p.A391=) - C5orf42_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1173T>G r.(?) p.(Ala391=) - likely benign g.37227868A>C g.37227766A>C CPLANE1(NM_023073.3):c.1173T>G (p.A391=) - C5orf42_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1181G>T r.(?) p.(Ser394Ile) - VUS g.37227860C>A - CPLANE1(NM_023073.3):c.1181G>T (p.S394I) - C5orf42_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1222C>T r.(?) p.(Arg408Trp) - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - c.1230del r.(?) p.(Tyr411Thrfs*25) - pathogenic g.37227813del - CPLANE1(NM_023073.3):c.1230delC (p.Y411Tfs*25) - C5orf42_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1271G>A r.(?) p.(Arg424Gln) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.1282A>G r.(?) p.(Ser428Gly) - VUS g.37227759T>C g.37227657T>C C5orf42(NM_023073.3):c.1282A>G (p.S428G) - C5orf42_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1312C>T r.(?) p.(Leu438Phe) - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.1319T>C r.(?) p.(Leu440Pro) - VUS g.37227722A>G g.37227620A>G C5orf42(NM_023073.3):c.1319T>C (p.L440P) - C5orf42_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1456G>A r.(?) p.(Asp486Asn) - 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 - - - 0 - VKGL-NL_Leiden
-?/. - c.1456G>A r.(?) p.(Asp486Asn) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.1597G>C r.(?) p.(Asp533His) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1697T>C r.(?) p.(Ile566Thr) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.1736C>T r.(?) p.(Ala579Val) - benign g.37226961G>A g.37226859G>A C5orf42(NM_023073.3):c.1736C>T (p.A579V) - C5orf42_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1736C>T r.(?) p.(Ala579Val) - benign g.37226961G>A g.37226859G>A C5orf42(NM_023073.3):c.1736C>T (p.A579V) - C5orf42_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1736C>T r.(?) p.(Ala579Val) - 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 - 0 - Mohammed Faruq
-?/. - c.1755A>G r.(?) p.(Ser585=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1755A>G r.(?) p.(Ser585=) - 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 - - - - - VKGL-NL_Utrecht
./. - c.1784T>G r.(?) p.(Leu595*) - pathogenic g.37226913A>C g.37226811A>C - - C5orf42_000022 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
./. - c.1784T>G r.(?) p.(Leu595*) - pathogenic g.37226913A>C g.37226811A>C - - C5orf42_000022 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1784T>G r.(?) p.(Leu595Ter) - 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 - - - 0 - VKGL-NL_Utrecht
+/. - c.1784T>G r.(?) p.(Leu595*) - pathogenic g.37226913A>C g.37226811A>C NM_023073.3:c.1784T>G - C5orf42_000022 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.1784T>G r.(?) p.(Leu595*) - pathogenic g.37226913A>C g.37226811A>C NM_023073.3:c.1784T>G - C5orf42_000022 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.1784T>G r.(?) p.(Leu595*) - pathogenic g.37226913A>C g.37226811A>C NM_023073.3:c.1784T>G - C5orf42_000022 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.1784T>G r.(?) p.(Leu595*) - pathogenic g.37226913A>C g.37226811A>C NM_023073.3:c.1784T>G - C5orf42_000022 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+?/. - c.1784T>G r.(?) p.(Leu595*) - likely pathogenic g.37226913A>C g.37226811A>C c.1784T>G; p.L595* - C5orf42_000022 - PubMed: Brooks 2018 - - Germline ? - - 0 - LOVD
+?/. - c.1784T>G r.(?) p.(Leu595*) - likely pathogenic g.37226913A>C g.37226811A>C c.1784T>G; p.L595* - C5orf42_000022 - PubMed: Brooks 2018 - - Germline ? - - 0 - LOVD
+?/. - c.1784T>G r.(?) p.(Leu595*) - likely pathogenic g.37226913A>C g.37226811A>C c.1784T>G; p.L595* - C5orf42_000022 - PubMed: Brooks 2018 - - Germline ? - - 0 - LOVD
+/. 12 c.1784T>G r.(?) p.(Leu595*) - pathogenic g.37226913A>C - c.1784T>G - C5orf42_000022 - PubMed: Summers 2017 - - Germline - - - 0 - LOVD
+/. 12 c.1784T>G r.(?) p.(Leu595*) - pathogenic g.37226913A>C - c.1784T>G - C5orf42_000022 - PubMed: Summers 2017 - - Germline - - - 0 - LOVD
?/. - c.1811A>T r.(?) p.(His604Leu) - 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 - - - - - VKGL-NL_Leiden
+/. - c.1812del r.(?) p.(Tyr607Thrfs*6) - pathogenic g.37226885del g.37226783del NM_023073.3:c.1819delT - C5orf42_000201 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.1819del r.(?) p.(Tyr607ThrfsTer6) - pathogenic g.37226885del g.37226783del CPLANE1(NM_023073.3):c.1819delT (p.Y607Tfs*6) - C5orf42_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1819del r.(?) p.(Tyr607ThrfsTer6) - pathogenic g.37226885del - CPLANE1(NM_023073.3):c.1819delT (p.Y607Tfs*6) - C5orf42_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1819del r.(?) p.(Tyr607Thrfs*6) - 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 ? - - 0 - LOVD
+?/. - c.1819del r.(?) p.(Tyr607Thrfs*6) - likely pathogenic g.37226885del g.37226783del c.1819del; p.Y607Tfs*6 - C5orf42_000201 - PubMed: Brooks 2018 - - Germline ? - - 0 - LOVD
+/. 12 c.1819del r.(?) p.(Tyr607Thrfs*6) - pathogenic g.37226878del - c.1819del - C5orf42_000201 - PubMed: Summers 2017 - - Germline - - - 0 - LOVD
+/. 12 c.1819del r.(?) p.(Tyr607Thrfs*6) - pathogenic g.37226878del - c.1819del - C5orf42_000201 - PubMed: Summers 2017 - - Germline - - - 0 - LOVD
?/. - c.1839A>C r.(?) p.(Lys613Asn) - VUS g.37226858T>G g.37226756T>G - - C5orf42_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1883G>A r.(?) p.(Arg628Lys) - likely benign g.37226814C>T g.37226712C>T C5orf42(NM_023073.3):c.1883G>A (p.R628K) - C5orf42_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1902T>G r.(?) p.(Leu634=) - benign g.37226795A>C g.37226693A>C CPLANE1(NM_023073.3):c.1902T>G (p.L634=) - C5orf42_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1902T>G r.(?) p.(Leu634=) - likely benign g.37226795A>C - CPLANE1(NM_023073.3):c.1902T>G (p.L634=) - C5orf42_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2033del r.(?) p.(Gly678ValfsTer9) - pathogenic g.37226664del - - - C5orf42_000228 - - - - Unknown - - - 0 - IMGAG
-?/. - c.2078A>G r.(?) p.(Lys693Arg) - likely benign g.37226619T>C g.37226517T>C C5orf42(NM_023073.3):c.2078A>G (p.K693R) - C5orf42_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2185A>G r.(?) p.(Ile729Val) - VUS g.37226512T>C - CPLANE1(NM_023073.3):c.2185A>G (p.I729V) - C5orf42_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.2275C>T r.(?) p.(Gln759*) - pathogenic g.37226422G>A g.37226320G>A NM_023073.3:c.2275C>T - C5orf42_000263 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.2275C>T r.(?) p.(Gln759*) - pathogenic g.37226422G>A g.37226320G>A NM_023073.3:c.2275C>T - C5orf42_000263 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
./. - c.2278C>T r.(?) p.(Gln760*) - pathogenic g.37226419G>A g.37226317G>A - - C5orf42_000021 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.2292-74del r.(=) p.(=) - benign g.37224926del g.37224824del CPLANE1(NM_023073.3):c.2292-74delA - C5orf42_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.2334G>A r.(?) p.(Trp778*) - likely pathogenic g.37224800C>T g.37224698C>T c.2334G>A; p.W778* - C5orf42_000274 - PubMed: Brooks 2018 - - Germline ? - - 0 - LOVD
+/. 13 c.2334G>A r.(?) p.(Trp778*) - pathogenic g.37224800C>T - c.2334G>A - C5orf42_000274 - PubMed: Summers 2017 - - Germline - - - 0 - LOVD
+/. - c.2353C>T r.(?) p.(Arg785*) - pathogenic g.37224781G>A g.37224679G>A NM_023073.3:c.2353C>T - C5orf42_000262 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.2377C>T r.(?) p.(Gln793*) - pathogenic g.37224757G>A g.37224655G>A NM_023073.3:c.2377C>T - C5orf42_000261 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. - c.2377C>T r.(?) p.(Gln793*) - pathogenic g.37224757G>A g.37224655G>A NM_023073.3:c.2377C>T - C5orf42_000261 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
-/. - c.2427A>G r.(?) p.(Leu809=) - benign g.37224707T>C g.37224605T>C CPLANE1(NM_023073.3):c.2427A>G (p.L809=) - C5orf42_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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