All variants in the CCDC50 gene

Information The variants shown are described using the NM_178335.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.49+20A>G r.(=) p.(=) - benign g.191047532A>G g.191329743A>G CCDC50(NM_178335.3):c.49+20A>G, UTS2B(NM_198152.5):c.-665+671T>C - CCDC50_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.50-4C>G r.spl? p.? - benign g.191074873C>G g.191357084C>G CCDC50(NM_178335.3):c.50-4C>G - CCDC50_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.113-4C>G r.spl? p.? - likely benign g.191075783C>G g.191357994C>G CCDC50(NM_178335.2):c.113-4C>G - UTS2D_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 3 c.153G>A r.(=) p.(=) - likely benign g.191075827G>A g.191358038G>A - - CCDC50_000014 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+?/. - c.167T>G r.(?) p.(Leu56Arg) - likely pathogenic (dominant) g.191075841T>G g.191358052T>G - - CCDC50_000025 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/+ 3 c.227G>A r.(?) p.(Arg76His) - pathogenic g.191075901G>A g.191358112G>A - - CCDC50_000015 - MORL Deafness Variation Database, PubMed: Vona 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. - c.307C>T r.(?) p.(Arg103Cys) - likely benign g.191078925C>T - - - UTS2D_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.308G>A r.(?) p.(Arg103His) - VUS g.191078926G>A g.191361137G>A - - CCDC50_000026 - PubMed: Boucher 2020 - - Germline - - - - - Johan den Dunnen
?/. - c.334A>T r.(?) p.(Ile112Leu) - VUS g.191087711A>T g.191369922A>T CCDC50(NM_178335.2):c.334A>T (p.I112L) - UTS2D_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.375A>G r.(?) p.(Lys125=) - likely benign g.191087752A>G g.191369963A>G CCDC50(NM_178335.2):c.375A>G (p.K125=) - CCDC50_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.617C>T r.(?) p.(Ser206Phe) - likely benign g.191093019C>T g.191375230C>T CCDC50(NM_178335.2):c.617C>T (p.S206F) - UTS2D_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.643A>G r.(?) p.(Asn215Asp) - likely benign g.191093045A>G - CCDC50(NM_178335.2):c.643A>G (p.N215D) - UTS2D_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.651T>C r.(?) p.(His217=) - benign g.191093053T>C g.191375264T>C CCDC50(NM_178335.3):c.651T>C (p.H217=) - CCDC50_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.666G>T r.(?) p.(Gln222His) - likely benign g.191093068G>T g.191375279G>T CCDC50(NM_178335.2):c.666G>T (p.Q222H) - UTS2D_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.678A>G r.(?) p.(Lys226=) - benign g.191093080A>G g.191375291A>G CCDC50(NM_178335.3):c.678A>G (p.K226=) - CCDC50_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/-? 6 c.749A>G r.(?) p.(Glu250Gly) - likely benign g.191093151A>G g.191375362A>G - - CCDC50_000016 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. - c.773T>A r.(?) p.(Ile258Asn) - benign g.191093175T>A g.191375386T>A CCDC50(NM_178335.3):c.773T>A (p.I258N) - CCDC50_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.787C>T r.(?) p.(Arg263*) - likely benign g.191093189C>T - CCDC50(NM_178335.3):c.787C>T (p.(Arg263*)) - UTS2D_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.820C>T r.(?) p.(Arg274Ter) - VUS g.191093222C>T g.191375433C>T - - UTS2D_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.835T>C r.(?) p.(Ser279Pro) - likely benign g.191093237T>C g.191375448T>C CCDC50(NM_178335.2):c.835T>C (p.S279P) - UTS2D_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.853C>G r.(?) p.(Leu285Val) - likely benign g.191093255C>G g.191375466C>G - - UTS2D_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.883G>T r.(?) p.(Asp295Tyr) - benign g.191093285G>T g.191375496G>T - - CCDC50_000022 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75123867 Germline - 4/2795 individuals - - - Mohammed Faruq
-/. - c.908A>G r.(?) p.(Lys303Arg) - benign g.191093310A>G g.191375521A>G CCDC50(NM_178335.3):c.908A>G (p.K303R) - CCDC50_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.976+6A>G r.(=) p.(=) - benign g.191093384A>G g.191375595A>G CCDC50(NM_178335.3):c.976+6A>G - CCDC50_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.995T>C r.(?) p.(Met332Thr) - benign g.191097966T>C g.191380177T>C CCDC50(NM_178335.3):c.995T>C (p.M332T) - CCDC50_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/-? 7 c.1003G>A r.(?) p.(Ala335Thr) - likely benign g.191097974G>A g.191380185G>A - - CCDC50_000017 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/? 9 c.1144G>A r.(?) p.(Ala382Thr) - VUS g.191098623G>A g.191380834G>A - - CCDC50_000018 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. - c.1181A>G r.(?) p.(Lys394Arg) - benign g.191098660A>G g.191380871A>G - - CCDC50_000023 98 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114502673 Germline - 98/2779 individuals - - - Mohammed Faruq
-/. - c.1181A>G r.(?) p.(Lys394Arg) - benign g.191098660A>G g.191380871A>G - - CCDC50_000023 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114502673 Germline - 3/2779 individuals - - - Mohammed Faruq
?/. - c.1195C>T r.(?) p.(Arg399Trp) - VUS g.191098674C>T - - - UTS2D_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1203A>G r.(?) p.(Lys401=) - likely benign g.191098682A>G g.191380893A>G CCDC50(NM_178335.2):c.1203A>G (p.K401=) - UTS2D_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 9 c.1203A>G r.(=) p.(=) - benign g.191098682A>G g.191380893A>G - - UTS2D_000008 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/? 9 c.1221A>C r.(?) p.(Arg407Ser) - VUS g.191098700A>C g.191380911A>C - - CCDC50_000019 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/-? 9 c.1231C>T r.(?) p.(Pro411Ser) - likely benign g.191098710C>T g.191380921C>T - - CCDC50_000020 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. - c.1242+10G>A r.(=) p.(=) - benign g.191098731G>A g.191380942G>A CCDC50(NM_178335.3):c.1242+10G>A - CCDC50_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1269C>A r.(?) p.(Ser423=) - benign g.191100561C>A g.191382772C>A CCDC50(NM_178335.3):c.1269C>A (p.S423=) - CCDC50_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 10 c.1305_1306insTAAT r.(?) p.(Asn436*) - likely pathogenic g.191100597_191100598insTAAT g.191382808_191382809insTAAT - - CCDC50_000001 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
?/. - c.1358C>T r.(?) p.(Ala453Val) - VUS g.191107320C>T - CCDC50(NM_178335.2):c.1358C>T (p.A453V) - UTS2D_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 11 c.1394_1401dup r.(?) p.(Phe468Hisfs*37) - pathogenic g.191107356_191107363dup g.191389567_191389574dup - - CCDC50_000021 - MORL Deafness Variation Database, PubMed: Modamio-Hoybjor 2007 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. - c.1396C>T r.(?) p.(Arg466Trp) - benign g.191107358C>T g.191389569C>T - - CCDC50_000024 75 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147604673 Germline - 75/2795 individuals - - - Mohammed Faruq
?/. - c.1429+5G>A r.spl? p.? - VUS g.191107396G>A g.191389607G>A CCDC50(NM_178335.2):c.1429+5G>A - CCDC50_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 11i c.1429+5G>A r.spl? p.? - VUS g.191107396G>A g.191389607G>A - - CCDC50_000012 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
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