Unique variants in the CCDC120 gene

Information The variants shown are described using the NM_033626.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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     
?/. 2 - c.-142-242T>C r.(=) p.(=) - VUS g.48919248T>C g.49061717T>C - - CCDC120_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.-43+18G>A r.(=) p.(=) - likely benign g.48919607G>A g.49062076G>A CCDC120(NM_001163321.2):c.35G>A (p.(Gly12Asp)) - CCDC120_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 7_ c.(619+140_?)del r.? p.? - pathogenic (dominant) g.(48915437_48922335)_(48942321_48967391)del g.(49057906_49064804)_(49085409_49110453)del hg18 g.(48802381_48809279)_(48829265_48854335)del - WDR45_000075 19.9 Kb deletion involving WDR45, CCDC120 and PRAF2 PubMed: Abidi 2016 - - De novo - - - - - Johan den Dunnen
-/. 1 - c.97C>T r.(?) p.(Arg33Trp) - benign g.48920046C>T g.49062515C>T CCDC120(NM_001271836.1):c.97C>T (p.R33W) - CCDC120_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.102G>T r.(=) p.(=) - likely benign g.48920051G>T g.49062520G>T G34G - CCDC120_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.376G>A r.(?) p.(Ala126Thr) - VUS g.48921952G>A g.49064421G>A CCDC120(NM_001163321.2):c.376G>A (p.(Ala126Thr)) - CCDC120_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.589C>T r.(?) p.(Leu197=) - likely benign g.48922165C>T g.49064634C>T CCDC120(NM_001271836.1):c.589C>T (p.L197=) - CCDC120_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.676G>A r.(?) p.(Asp226Asn) - VUS g.48922623G>A g.49065092G>A CCDC120(NM_001271836.1):c.676G>A (p.D226N) - CCDC120_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.976C>T r.(?) p.(Arg326Cys) - VUS g.48924731C>T g.49067195C>T CCDC120(NM_001271836.1):c.976C>T (p.R326C) - PRAF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1022C>T r.(?) p.(Ala341Val) - likely benign g.48924777C>T g.49067241C>T CCDC120(NM_001271836.1):c.1022C>T (p.A341V) - PRAF2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1102C>T r.(?) p.(Arg368Trp) - VUS g.48924857C>T - CCDC120(NM_001271836.1):c.1102C>T (p.R368W) - CCDC120_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1271G>T r.(?) p.(Ser424Ile) - VUS g.48925026G>T g.49067490G>T CCDC120(NM_001271836.1):c.1271G>T (p.S424I) - CCDC120_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1282C>A r.(?) p.(Pro428Thr) - likely benign g.48925037C>A g.49067501C>A CCDC120(NM_001163321.2):c.1387C>A (p.(Pro463Thr)), CCDC120(NM_001271836.1):c.1282C>A (p.P428T) - PRAF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1351C>G r.(?) p.(Arg451Gly) - VUS g.48925106C>G g.49067570C>G CCDC120(NM_001271836.1):c.1351C>G (p.R451G) - CCDC120_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1384T>G r.(?) p.(Trp462Gly) - VUS g.48925139T>G - CCDC120(NM_001163322.2):c.1348T>G (p.W450G) - CCDC120_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1477G>A r.(?) p.(Ala493Thr) - VUS g.48925232G>A g.49067696G>A CCDC120(NM_001271836.1):c.1477G>A (p.A493T) - CCDC120_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1569C>T r.(?) p.(Ala523=) - likely benign g.48925324C>T - CCDC120(NM_001271836.1):c.1569C>T (p.A523=) - CCDC120_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1576C>T r.(?) p.(Pro526Ser) - likely benign g.48925331C>T - CCDC120(NM_001271836.1):c.1576C>T (p.P526S) - CCDC120_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1613C>T r.(?) p.(Pro538Leu) - VUS g.48925368C>T - CCDC120(NM_001271836.1):c.1613C>T (p.P538L) - CCDC120_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1633G>A r.(?) p.(Ala545Thr) - VUS g.48925388G>A g.49067852G>A CCDC120(NM_001163321.2):c.1738G>A (p.(Ala580Thr)) - CCDC120_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1679G>A r.(?) p.(Arg560Gln) - VUS g.48925434G>A g.49067898G>A CCDC120(NM_001271836.1):c.1679G>A (p.R560Q) - PRAF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1717C>G r.(?) p.(Pro573Ala) - likely benign g.48925472C>G - CCDC120:c.1717C>G - CCDC120_000025 - PubMed: Maranhao 2015 - - Germline - 5/25 families - - - LOVD
?/. 1 - c.1757A>C r.(?) p.(His586Pro) - VUS g.48925512A>C g.49067976A>C CCDC120(NM_001163321.2):c.1862A>C (p.(His621Pro)) - CCDC120_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 10 c.1778G>A r.(?) p.(Arg593His) - likely benign, VUS g.48925533G>A g.49067997G>A CCDC120(NM_001163321.2):c.1883G>A (p.(Arg628His)) - CCDC120_000002 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Lindert 2016, Journal: Lindert 2016, PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline no 1/208 cases - - - Johan den Dunnen, Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.1853C>T r.(?) p.(Ala618Val) - VUS g.48925608C>T g.49068072C>T CCDC120(NM_001163321.2):c.1853C>T (p.(Ala618Val)) - CCDC120_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*626del r.? p.? - VUS g.48926274del g.49068738del CCDC120(NM_001163321.2):c.*77del (p.(=)) - CCDC120_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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