Unique variants in the C5orf42 gene

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

287 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
+?/. 1 - c.? r.? p.? - likely pathogenic g.? - NM_023073.3:c.1165G>A (Ala389Thr) ?? - C5orf42_000023 - PubMed: Kroes 2016 - - Unknown ? - - - - Sanne Savelberg
-/. 2 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - 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 - - - - - VKGL-NL_Utrecht
+/. 2 - 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 - - - - - LOVD
+/., +?/. 2 5 c.455C>T r.(?) p.(Ser152Phe) - likely pathogenic, pathogenic g.37244592G>A g.37244490G>A c.455C>T, c.455C>T; p.S152F - C5orf42_000275 - PubMed: Brooks 2018, PubMed: Summers 2017 - - Germline ? - - - - LOVD
?/. 2 - 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_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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 ? - - - - LOVD
+/., +?/. 5 5 c.493del r.(?) p.(Ile165Tyrfs*17) - likely pathogenic, pathogenic g.37244554del g.37244452del NM_023073.3:c.493delA - C5orf42_000012, C5orf42_000024 - PubMed: Bachmann-Gagescu 2015, PubMed: Kroes 2016 - - Germline ? - - - - Sanne Savelberg, Anita Rauch
+/. 1 - c.509del r.(?) p.(Leu171Serfs*11) - pathogenic g.37244538del g.37244436del NM_023073.3:c.510delT - C5orf42_000266 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/. 1 - c.509dup r.(?) p.(Leu171Serfs*8) - pathogenic g.37244538dup g.37244436dup NM_023073.3:c.510dupT - C5orf42_000265 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/., +?/. 2 5 c.510dup r.(?) p.(Leu171Serfs*8) - likely pathogenic, pathogenic g.37244537dup, g.37244538dup g.37244436dup c.510dup, c.510_511insT; p.L171Sfs*8 - C5orf42_000265 - PubMed: Brooks 2018, PubMed: Summers 2017 - - Germline ? - - - - LOVD
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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 - - - Mohammed Faruq
-?/., ?/. 3 - c.626A>G r.(?) p.(Lys209Arg) - likely benign, VUS g.37243166T>C g.37243064T>C 1 more item - C5orf42_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.647G>A r.(?) p.(Arg216Gln) - VUS g.37243145C>T - CPLANE1(NM_023073.3):c.647G>A (p.R216Q) - C5orf42_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.662T>C r.(?) p.(Val221Ala) - likely benign g.37243130A>G g.37243028A>G 1 more item - C5orf42_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - 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
-?/. 2 - 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, VKGL-NL_Rotterdam
+/. 1 - 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 - - - - - LOVD
-/. 1 - 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 - - - - - VKGL-NL_AMC
?/. 1 - 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 - - - - - VKGL-NL_AMC
+?/. 1 9 c.964T>G r.(?) p.(Trp322Gly) - likely pathogenic g.37231126A>C g.37231024A>C - - C5orf42_000018 - PubMed: Kroes 2016 - - Unknown ? - - - - Sanne Savelberg
+/., ?/. 3 - c.968C>T r.(?) p.(Thr323Met) - pathogenic, VUS g.37231122G>A g.37231020G>A C5orf42(NM_023073.3):c.968C>T (p.T323M), NM_023073.3:c.968C>T - C5orf42_000126 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Bachmann-Gagescu 2015, PubMed: Narang 2020, Journal: Narang 2020 - rs373704405 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
+?/. 1 9 c.986T>C r.(?) p.(Leu329Pro) - likely pathogenic g.37231104A>G - c.986T>C - C5orf42_000287 - PubMed: Enokizono 2017 - - Germline - - - - - LOVD
?/. 1 - 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
-?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1125A>G r.(?) p.(Pro375=) - likely benign g.37227916T>C - CPLANE1(NM_023073.3):c.1125A>G (p.P375=) - C5orf42_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1173T>G r.(?) p.(Ala391=) - benign, 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, VKGL-NL_AMC
?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - 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
?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_AMC
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - 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_Leiden, VKGL-NL_Rotterdam
?/. 1 - 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
-?/. 1 - 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
-/., -?/. 3 - c.1736C>T r.(?) p.(Ala579Val) - benign, likely benign g.37226961G>A g.37226859G>A C5orf42(NM_023073.3):c.1736C>T (p.A579V) - C5orf42_000116 4 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs191239995 CLASSIFICATION record, Germline - 4/2795 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Mohammed Faruq
-/. 1 - c.1737G>A r.(?) p.(Ala579=) - benign g.37226960C>T - CPLANE1(NM_023073.3):c.1737G>A (p.A579=) - C5orf42_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - 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, VKGL-NL_Utrecht
+/., +?/., ./. 12 12 c.1784T>G r.(?) p.(Leu595*), p.(Leu595Ter) - likely pathogenic, pathogenic g.37226913A>C g.37226811A>C c.1784T>G, c.1784T>G; p.L595*, CPLANE1(NM_023073.3):c.1784T>G (p.L595*), 1 more item - C5orf42_000022 association variant/phenotype uncertain, VKGL data sharing initiative Nederland PubMed: Bachmann-Gagescu 2015, PubMed: Brooks 2018, PubMed: DDDS 2015, Journal: DDDS 2015, 1 more item - - CLASSIFICATION record, Germline ? - - - - Johan den Dunnen, VKGL-NL_Utrecht
?/. 1 - 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
+/. 1 - c.1812del r.(?) p.(Tyr607Thrfs*6) - pathogenic g.37226885del g.37226783del NM_023073.3:c.1819delT - C5orf42_000201 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/., +?/. 6 12 c.1819del r.(?) p.(Tyr607Thrfs*6), p.(Tyr607ThrfsTer6) - likely pathogenic, pathogenic g.37226878del, g.37226885del g.37226783del c.1819del, c.1819del; p.Y607Tfs*6, CPLANE1(NM_023073.3):c.1819delT (p.Y607Tfs*6) - C5orf42_000201 single heterozygous variant, no variant found on second allele, VKGL data sharing initiative Nederland PubMed: Brooks 2018, PubMed: Summers 2017 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1839A>C r.(?) p.(Lys613Asn) - VUS g.37226858T>G g.37226756T>G - - C5orf42_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1902T>G r.(?) p.(Leu634=) - benign, likely 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 - c.2033del r.(?) p.(Gly678ValfsTer9) - pathogenic g.37226664del - - - C5orf42_000228 - - - - Unknown - - - - - IMGAG
-?/. 1 - 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
?/. 1 - 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
+/. 2 - 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 - - - - - LOVD
./. 1 - 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 - - - - - Johan den Dunnen
-/. 1 - 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 - - - - - VKGL-NL_Utrecht
+/., +?/. 2 13 c.2334G>A r.(?) p.(Trp778*) - likely pathogenic, pathogenic g.37224800C>T g.37224698C>T c.2334G>A, c.2334G>A; p.W778* - C5orf42_000274 - PubMed: Brooks 2018, PubMed: Summers 2017 - - Germline ? - - - - LOVD
+/. 1 - 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 - - - - - LOVD
+/. 2 - 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 - - - - - LOVD
-/., -?/. 2 - c.2427A>G r.(?) p.(Leu809=) - benign, likely 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_Rotterdam, VKGL-NL_AMC
+/. 1 - c.2611C>T r.(?) p.(Arg871Cys) - pathogenic g.37221561G>A g.37221459G>A NM_023073.3:c.2611C>T - C5orf42_000260 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/., +?/. 4 15 c.2624C>T r.(?) p.(Ser875Phe) - likely pathogenic, pathogenic g.37221548G>A g.37221446G>A c.2624C>T, c.2624C>T; p.S875F - C5orf42_000016, C5orf42_000026 - PubMed: Brooks 2018, PubMed: Kroes 2016, PubMed: Summers 2017 - - Germline, Unknown ? - - - - Sanne Savelberg, Anita Rauch
+/. 1 - c.2709G>A r.(?) p.(Trp903*) - pathogenic g.37221463C>T g.37221361C>T NM_023073.3:c.2709G>A - C5orf42_000259 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
?/. 1 - c.2770T>A r.(?) p.(Cys924Ser) - VUS g.37213811A>T g.37213709A>T C5orf42(NM_023073.3):c.2770T>A (p.(Cys924Ser)) - C5orf42_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.2831G>A r.(?) p.(Arg944His) - pathogenic g.37213750C>T g.37213648C>T NM_023073.3:c.2831G>A - C5orf42_000258 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+?/. 1 16 c.2846A>G r.(?) p.(Tyr949Cys) - likely pathogenic g.37213735T>C - c.2846A>G - C5orf42_000286 - PubMed: Enokizono 2017 - - Germline - - - - - LOVD
?/. 1 - c.2855A>G r.(?) p.(Asn952Ser) - VUS g.37213726T>C g.37213624T>C C5orf42(NM_023073.3):c.2855A>G (p.N952S) - C5orf42_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2920+1064_2920+1065del r.(=) p.(=) - benign g.37212596_37212597del g.37212494_37212495del CPLANE1(NM_023073.3):c.2920+1064_2920+1065delGG - C5orf42_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2920+1067_2920+1068insA r.(=) p.(=) - benign g.37212593_37212594insT g.37212491_37212492insT CPLANE1(NM_023073.3):c.2920+1067_2920+1068insA - C5orf42_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 16i c.2920+1594T>G r.(=) p.(=) - likely benign g.37212067A>C g.37211965A>C - - C5orf42_000009 - - - - Germline - - - - - Yu Sun
-/. 1 - c.2920+1845G>A r.(=) p.(=) - benign g.37211816C>T g.37211714C>T CPLANE1(NM_023073.3):c.2920+1845G>A - C5orf42_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2920+2135C>T r.(=) p.(=) - benign g.37211526G>A g.37211424G>A CPLANE1(NM_023073.3):c.2920+2135C>T - C5orf42_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2920+3318A>G r.(=) p.(=) - benign g.37210343T>C g.37210241T>C CPLANE1(NM_023073.3):c.2920+3318A>G - C5orf42_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2921-3013C>T r.(=) p.(=) - benign g.37209540G>A g.37209438G>A CPLANE1(NM_023073.3):c.2921-3013C>T - C5orf42_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +?/. 2 - c.2923C>T r.(?) p.(Gln975*) - likely pathogenic, pathogenic g.37206525G>A g.37206423G>A c.2923C>T; p.Q975*, NM_023073.3:c.2923C>T - C5orf42_000257 - PubMed: Bachmann-Gagescu 2015, PubMed: Brooks 2018 - - Germline ? - - - - LOVD
?/. 1 - c.2938A>C r.(?) p.(Ile980Leu) - VUS g.37206510T>G g.37206408T>G C5orf42(NM_023073.3):c.2938A>C (p.I980L) - C5orf42_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 3 17 c.2999G>T r.(?) p.(Trp1000Leu) - likely pathogenic, pathogenic g.37206449C>A g.37206347C>A c.2999G>T, c.2999G>T; p.W1000L, NM_023073.3:c.2999G>T - C5orf42_000256 - PubMed: Bachmann-Gagescu 2015, PubMed: Brooks 2018, PubMed: Summers 2017 - - Germline ? - - - - LOVD
+/., +?/. 2 17 c.3001A>G r.(?) p.(Thr1001Ala) - likely pathogenic, pathogenic g.37206447T>C g.37206345T>C c.3001A>G, c.3001A>G; p.T1001A and c.8855+1G>A - C5orf42_000273 - PubMed: Brooks 2018, PubMed: Summers 2017 - - Germline ? - - - - LOVD
+/. 1 - c.3007G>T r.(?) p.(Glu1003*) - pathogenic g.37206441C>A g.37206339C>A NM_023073.3:c.3007G>T - C5orf42_000255 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
?/. 1 - c.3100A>G r.(?) p.(Ile1034Val) - VUS g.37206348T>C g.37206246T>C C5orf42(NM_023073.3):c.3100A>G (p.I1034V) - C5orf42_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.3130_3131insA r.(?) p.(Arg1044Glnfs*2) - pathogenic g.37206317_37206318insT g.37206215_37206216insT NM_023073.3:c.3130_3131insA - C5orf42_000254 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
?/. 1 - c.3131G>A r.(?) p.(Arg1044His) - VUS g.37206317C>T g.37206215C>T C5orf42(NM_023073.3):c.3131G>A (p.(Arg1044His)) - C5orf42_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.3213del r.(?) p.(Lys1071AsnfsTer6) - pathogenic g.37205497del - CPLANE1(NM_023073.4):c.3213delA (p.K1071Nfs*6) - C5orf42_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.3240C>T r.(?) p.(Ala1080=) - benign g.37205466G>A - CPLANE1(NM_023073.3):c.3240C>T (p.A1080=) - C5orf42_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.3366T>G r.(?) p.(Asp1122Glu) - VUS g.37201834A>C - CPLANE1(NM_023073.3):c.3366T>G (p.D1122E) - C5orf42_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3447A>G r.(?) p.(Pro1149=) - likely benign g.37201753T>C g.37201651T>C C5orf42(NM_023073.3):c.3447A>G (p.P1149=) - C5orf42_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3508-85dup r.(=) p.(=) - benign g.37199053dup g.37198951dup CPLANE1(NM_023073.3):c.3508-85dupC - C5orf42_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.3508-19A>G r.(=) p.(=) - benign g.37198987T>C g.37198885T>C C5orf42(NM_023073.3):c.3508-19A>G - C5orf42_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.3557del r.(?) p.(Lys1186ArgfsTer22) - pathogenic g.37198920del g.37198818del c.3557delA - C5orf42_000239 - PubMed: Suzuki 2016 - - Germline - - - - - LOVD
+/., +?/. 5 20 c.3577C>T r.(?) p.(Arg1193Cys) - likely pathogenic, pathogenic g.37198899G>A g.37198797G>A c.3577C>T - C5orf42_000194 VKGL data sharing initiative Nederland PubMed: Enokizono 2017, PubMed: Suzuki 2016 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen
+?/. 1 20 c.3587T>G r.(?) p.(Leu1196Arg) - likely pathogenic g.37198889A>C g.37198787A>C - - C5orf42_000014 - PubMed: Kroes 2016 - - Unknown ? - - - - Sanne Savelberg
?/. 1 - c.3595C>T r.(?) p.(Arg1199Trp) - VUS g.37198881G>A g.37198779G>A C5orf42(NM_023073.3):c.3595C>T (p.R1199W) - C5orf42_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 3 20 c.3599C>T r.(?) p.(Ala1200Val) - likely pathogenic, pathogenic g.37198877G>A g.37198775G>A c.3599C>T, NM_023073.3:c.3599C>T - C5orf42_000238 - PubMed: Bachmann-Gagescu 2015, PubMed: Enokizono 2017, PubMed: Suzuki 2016 - - Germline - - - - - LOVD
+/. 2 - c.3631_3632del r.(?) p.(Leu1213Alafs*30) - pathogenic g.37198844_37198845del g.37198742_37198743del NM_023073.3:c.3636_3637delAT - C5orf42_000253 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
-/., -?/., ?/. 4 - c.3743G>A r.(?) p.(Gly1248Asp) - benign, likely benign, VUS g.37196028C>T g.37195926C>T C5orf42(NM_023073.3):c.3743G>A (p.G1248D), CPLANE1(NM_023073.3):c.3743G>A (p.G1248D) - C5orf42_000098 conflicting interpretations of pathogenicity; 169 heterozygous; Clinindb (India), 2 more items PubMed: Narang 2020, Journal: Narang 2020 - rs72736758 CLASSIFICATION record, Germline - 169/2795 individuals, 4/2795 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Mohammed Faruq
-/. 1 - c.3795T>A r.(?) p.(Val1265=) - benign g.37195976A>T g.37195874A>T CPLANE1(NM_023073.3):c.3795T>A (p.V1265=) - C5orf42_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.3828T>C r.(=) p.(=) - likely pathogenic g.37187928A>G g.37187826A>G NM_023073.3:c.3828T>C - C5orf42_000252 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
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