Unique variants in the C10orf2 gene

NOTE: gene name changed from C10orf2 to TWNK
Information The variants shown are described using the NM_021830.4 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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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.-4192G>A r.(?) p.(=) - likely benign g.102743776G>A g.100984019G>A SEMA4G(NM_017893.3):c.2420G>A (p.S807N) - MRPL43_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-1043A>G r.(?) p.(=) - VUS g.102746925A>G g.100987168A>G MRPL43(NM_032112.2):c.160T>C (p.(Phe54Leu)) - C10orf2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.50T>C r.(?) p.(Leu17Pro) - likely benign g.102748017T>C g.100988260T>C C10orf2(NM_001163812.1):c.50T>C (p.(Leu17Pro)) - C10orf2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.167C>G r.(?) p.(Thr56Ser) - VUS g.102748134C>G g.100988377C>G C10orf2(NM_001163812.1):c.167C>G (p.T56S) - C10orf2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.169G>A r.(?) p.(Ala57Thr) - likely benign g.102748136G>A g.100988379G>A C10orf2(NM_001163812.1):c.169G>A (p.A57T), TWNK(NM_001163812.2):c.169G>A (p.A57T) - C10orf2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.173C>T r.(?) p.(Thr58Ile) - likely benign g.102748140C>T g.100988383C>T C10orf2(NM_001163812.1):c.173C>T (p.(Thr58Ile)) - C10orf2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.236G>A r.(?) p.(Arg79Gln) - VUS g.102748203G>A g.100988446G>A TWNK(NM_001163812.1):c.236G>A (p.R79Q) - C10orf2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.238G>A r.(?) p.(Ala80Thr) - likely benign g.102748205G>A - TWNK(NM_001163812.1):c.238G>A (p.A80T) - C10orf2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 1 c.247C>T r.(247c>u) p.(Pro83Ser) - likely pathogenic g.102748214C>T g.100988457C>T - - C10orf2_000004 - PubMed: Hartley 2012 - - Germline yes - - - - Anne Polvi
-?/. 1 - c.302G>T r.(?) p.(Ser101Ile) - likely benign g.102748269G>T g.100988512G>T C10orf2(NM_001163812.1):c.302G>T (p.(Ser101Ile)) - C10orf2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 1 c.333del r.(?) p.(Leu112Serfs*3) - likely pathogenic g.102748300del g.100988543del 333delT - C10orf2_000015 - - - - Germline yes - - - - Sarah Pierce
-?/. 1 - c.462C>T r.(?) p.(Val154=) - likely benign g.102748429C>T g.100988672C>T C10orf2(NM_001163812.1):c.462C>T (p.V154=) - C10orf2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.631C>G r.(?) p.(Pro211Ala) - likely benign g.102748598C>G g.100988841C>G C10orf2(NM_001163812.1):c.631C>G (p.P211A) - C10orf2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 1 c.639C>T r.(=), r.(?) p.(=), p.(Gly213=) - likely benign, VUS g.102748606C>T g.100988849C>T C10orf2(NM_001163812.1):c.639C>T (p.G213=) - C10orf2_000010 VKGL data sharing initiative Nederland - - rs11542130 CLASSIFICATION record, Germline - up to 0.01 - - - Andreas Laner, VKGL-NL_Rotterdam
-?/. 1 - c.700G>A r.(?) p.(Glu234Lys) - likely benign g.102748667G>A - TWNK(NM_001163812.1):c.700G>A (p.E234K) - C10orf2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 1 c.709A>G r.(?) p.(Thr237Ala) - likely pathogenic g.102748676A>G g.100988919A>G - - C10orf2_000006 - PubMed: Faruq 2013 - - Germline yes - - - - Tuula Lönnqvist
+/. 1 1 c.793C>T r.(?) p.(Arg265Cys) - pathogenic g.102748760C>T g.100989003C>T - - C10orf2_000017 - PubMed: Lerat 2016, Journal: Lerat 2016 - - Germline yes - - - - Johan den Dunnen
+?/. 1 1 c.904C>T r.(?) p.(Arg302Trp) - likely pathogenic g.102748871C>T g.100989114C>T - - C10orf2_000016 1/60628 individuals in ExAC database - - - Germline yes - - - - Sarah Pierce
?/. 1 - c.937C>T r.(?) p.(Arg313Trp) - VUS g.102748904C>T g.100989147C>T C10orf2(NM_001163812.1):c.937C>T (p.R313W) - C10orf2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.938G>A r.(?) p.(Arg313Gln) - VUS g.102748905G>A - - - C10orf2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.954C>G r.(?) p.(Ala318=) - likely benign g.102748921C>G - TWNK(NM_001163812.1):c.954C>G (p.A318=) - C10orf2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 1 c.968G>A r.(968g>a) p.(Arg323Gln) - likely pathogenic g.102748935G>A g.100989178G>A - - C10orf2_000012 - PubMed: Demain 2016, Journal: Demain 2016 - - Germline - - - - - Leigh Demain
+?/. 1 - c.1003C>A r.(?) p.(Pro335Thr) - likely pathogenic g.102748970C>A g.100989213C>A NM_021830.4:c.1003C>A; p.Pro335Thr - C10orf2_000061 - PubMed: Nair 2018 - - Unknown ? - - - - LOVD
-?/. 2 - c.1042G>A r.(?) p.(Gly348Arg) - likely benign g.102749009G>A g.100989252G>A C10orf2(NM_001163812.1):c.1042G>A (p.G348R, p.(Gly348Arg)) - C10orf2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 1 c.1061G>C r.(?) p.(Arg354Pro) - pathogenic g.102749028G>C g.100989271G>C - - C10orf2_000008 - - - - Germline - - - - - Andreas Laner
-/. 2 - c.1102G>A r.(?) p.(Val368Ile) - benign g.102749069G>A g.100989312G>A - - C10orf2_000028 14 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs17113613 CLASSIFICATION record, Germline - 14/2795 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
?/. 1 - c.1117C>G r.(?) p.(Leu373Val) - VUS g.102749084C>G g.100989327C>G - - C10orf2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1120C>T r.(?) p.(Arg374Trp) - pathogenic g.102749087C>T g.100989330C>T - - C10orf2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.1121G>A r.(?) p.(Arg374Gln) - pathogenic g.102749088G>A g.100989331G>A - - C10orf2_000009 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.1124A>T r.(?) p.(Glu375Val) - VUS g.102749091A>T g.100989334A>T - - C10orf2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., -?/. 2 - c.1172G>A r.(?) p.(Arg391His) - likely benign, likely pathogenic g.102749139G>A g.100989382G>A TWNK(NM_021830.5):c.1172G>A (p.R391H) - C10orf2_000020 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs556445621 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
?/. 1 - c.1190A>G r.(?) p.(Asp397Gly) - VUS g.102749157A>G - - - C10orf2_000056 - PubMed: Stalke 2018 - - Germline - - - - - Johan den Dunnen
+?/., ?/. 2 1 c.1196A>G r.(1196a>g), r.(?) p.(Asn399Ser) - likely pathogenic, VUS g.102749163A>G g.100989406A>G - - C10orf2_000013 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Demain 2016, Journal: Demain 2016, PubMed: Narang 2020, Journal: Narang 2020 - rs863223921 Germline - 1/2794 individuals - - - Leigh Demain, Mohammed Faruq
+?/+? 1 2 c.1287C>T r.1287c>u p.= - pathogenic g.102749444C>T g.100989687C>T 1472C>T (silent) - C10orf2_000002 functional studies show decreased transcription (0.28 vs. 0.72); 1 Finnish family (com-het) PubMed: Nikali 2005 - rs80356541 Germline yes - - - - Anne Polvi
+?/. 1 2 c.1306G>A r.(?) p.(Gly436Arg) - likely pathogenic g.102749463G>A g.100989706G>A - - C10orf2_000011 - - - - Germline ? - - - - Marcel Nelen
?/. 2 2 c.1306G>C r.(?) p.(Gly436Arg) - VUS g.102749463G>C g.100989706G>C C10orf2(NM_001163812.1):c.1306G>C (p.G436R) - C10orf2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Erik-Jan Kamsteeg, VKGL-NL_Rotterdam
?/. 1 - c.1349G>A r.(?) p.(Arg450Lys) - VUS g.102749506G>A g.100989749G>A TWNK(NM_001163812.2):c.1349G>A (p.R450K) - C10orf2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 2 c.1361T>G r.(?) p.(Val454Gly) - likely pathogenic (dominant) g.102749518T>G g.100989761T>G - - C10orf2_000051 - - - - Germline - - - - - Pablo Serrano-Lorenzo
+?/+? 1 2 c.1366C>G r.(1366c>g) p.(Leu456Val) - likely pathogenic g.102749523C>G g.100989766C>G - - C10orf2_000003 - PubMed: Dündar 2012 - - Germline yes - - - - Anne Polvi
+?/. 1 - c.1379C>G r.(?) p.(Ala460Gly) ACMG likely pathogenic g.102749536C>G g.100989779C>G - - C10orf2_000052 mother also affected, no segregation data; Fratter et al. 2010. Neurology 74: 1619-26 - - - Germline - - - - - Andreas Laner
+?/+? 1 2 c.1387C>T r.(1387c>u) p.(Arg463Trp) - likely pathogenic g.102749544C>T g.100989787C>T - - C10orf2_000005 - PubMed: Hartley 2012 - - Germline yes - - - - Anne Polvi
?/. 1 2 c.1411T>G r.(?) p.(Tyr471Asp) - likely pathogenic (dominant) g.102749568T>G g.100989811T>G - - C10orf2_000050 - - - - Germline - - - - - Pablo Serrano-Lorenzo
?/. 1 - c.1463T>C r.(?) p.(Phe488Ser) - VUS g.102749620T>C g.100989863T>C C10orf2(NM_001163812.1):c.1463T>C (p.(Phe488Ser)) - C10orf2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1485G>A r.(?) p.(Arg495=) - likely benign g.102750193G>A g.100990436G>A TWNK(NM_001163812.2):c.1485G>A (p.R495=) - C10orf2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 4 3 c.1523A>G r.(1523a>g), r.(?), r.1523a>g p.(Tyr508Cys), p.Tyr508Cys - pathogenic g.102750231A>G g.100990474A>G 1708A>G (Y508C) - C10orf2_000001 8/712 controls (FIN), all heterozygous, Finnish major IOSCA variant, 2 more items PubMed: Nikali 2005 - rs80356540 Germline -, yes 8/712 controls (FIN), 8/712 controls (het) - - - Johan den Dunnen, Anne Polvi
-?/. 1 - c.1527C>T r.(?) p.(Asp509=) - likely benign g.102750235C>T g.100990478C>T C10orf2(NM_001163812.1):c.1527C>T (p.D509=) - C10orf2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1536T>C r.(?) p.(His512=) - likely benign g.102750244T>C g.100990487T>C C10orf2(NM_001163812.1):c.1536T>C (p.H512=) - C10orf2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1617C>T r.(?) p.(Ile539=) - likely benign g.102750650C>T g.100990893C>T TWNK(NM_001163812.1):c.1617C>T (p.I539=) - C10orf2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1656T>C r.(?) p.(His552=) - likely benign g.102750689T>C g.100990932T>C C10orf2(NM_001163812.1):c.1656T>C (p.H552=) - C10orf2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1686G>A r.(?) p.(Glu562=) - likely benign g.102750719G>A g.100990962G>A C10orf2(NM_001163812.1):c.1686G>A (p.E562=) - C10orf2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1752C>T r.(?) p.(Asp584=) - likely benign g.102752964C>T g.100993207C>T TWNK(NM_021830.5):c.1752C>T (p.D584=) - C10orf2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 5 c.1802G>A r.(?) p.(Arg601Gln) - VUS g.102753014G>A g.100993257G>A - - C10orf2_000007 - - - rs141315771 Germline - - - - - Andreas Laner
?/. 1 - c.1817C>G r.(?) p.(Ser606Cys) - VUS g.102753029C>G - TWNK(NM_021830.4):c.1817C>G (p.S606C) - C10orf2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1853C>T r.(?) p.(Pro618Leu) - VUS g.102753065C>T g.100993308C>T - - C10orf2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1854G>A r.(?) p.(Pro618=) - likely benign g.102753066G>A g.100993309G>A C10orf2(NM_021830.4):c.1854G>A (p.P618=) - C10orf2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1925A>G r.(?) p.(Lys642Arg) - VUS g.102753137A>G g.100993380A>G C10orf2(NM_001163812.1):c.*220A>G (p.(=)) - C10orf2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1958C>T r.(?) p.(Ser653Phe) - likely benign g.102753170C>T - TWNK(NM_021830.4):c.1958C>T (p.S653F) - C10orf2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1980G>A r.(?) p.(Thr660=) - likely benign g.102753192G>A g.100993435G>A C10orf2(NM_021830.4):c.1980G>A (p.T660=) - C10orf2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*204G>A r.(=) p.(=) - likely benign g.102753471G>A g.100993714G>A - - C10orf2_000053 20 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61871507 Germline - 20/2795 individuals - - - Mohammed Faruq
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