Unique variants in the CHRDL1 gene

Information The variants shown are described using the NM_145234.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-377G>A - p.(=) - VUS g.110039256C>T g.110796028C>T - - CHRDL1_000010 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.47T>C r.(?) p.(Leu16Ser) - likely benign g.110035363A>G - CHRDL1(NM_001143981.1):c.47T>C (p.L16S) - CHRDL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.94+2dup r.spl? p.? - pathogenic g.110035314dup - CHRDL1(NM_001143981.1):c.94+2dupT - CHRDL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.103A>G r.(?) p.(Thr35Ala) - VUS g.110006027T>C g.110762799T>C CHRDL1(NM_001143981.1):c.103A>G (p.T35A) - CHRDL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.105A>G r.(?) p.(Thr35=) - likely benign g.110006025T>C - CHRDL1(NM_001143981.1):c.105A>G (p.T35=) - CHRDL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.174G>A r.(?) p.(Gly58=) - benign g.110005956C>T g.110762728C>T CHRDL1(NM_001143981.1):c.174G>A (p.G58=) - CHRDL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.525C>T r.(?) p.(Cys175=) - likely benign g.109963076G>A - CHRDL1(NM_001143981.1):c.528C>T (p.C176=) - CHRDL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.584G>A r.(?) p.(Arg195Gln) - likely benign g.109943904C>T - CHRDL1(NM_001143981.1):c.587G>A (p.R196Q, p.(Arg196Gln)) - CHRDL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 - c.606+1G>A r.spl? p.? - pathogenic g.109943881C>T g.110700653C>T CHRDL1(NM_001143981.1):c.609+1G>A - CHRDL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.695G>A r.(?) p.(Arg232Gln) - likely benign g.109937471C>T g.110694243C>T CHRDL1(NM_001143981.1):c.698G>A (p.R233Q) - CHRDL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.707T>C r.(?) p.(Met236Thr) - likely benign g.109937459A>G g.110694231A>G CHRDL1(NM_001143981.1):c.710T>C (p.M237T) - CHRDL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/., ?/. 4 9 c.951A>G r.(?) p.(=), p.(Lys317=) - benign, likely benign, VUS g.109931856T>C g.110688628T>C CHRDL1(NM_001143981.2):c.954A>G (p.K318=), K317K - CHRDL1_000006 recurrent, found 74 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 74/208 cases - - - Yu Sun, Lucy Raymond, VKGL-NL_Groningen
?/. 2 - c.985+23T>C r.(=) p.(=) - VUS g.109931799A>G g.110688571A>G - - CHRDL1_000005 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1037C>T r.(?) p.(Thr346Met) - VUS g.109924823G>A g.110681595G>A CHRDL1(NM_001143981.1):c.1043C>T (p.T348M) - CHRDL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1145G>A r.(?) p.(Arg382Gln) - likely benign g.109924715C>T g.110681487C>T CHRDL1(NM_001143981.1):c.1151G>A (p.(Arg384Gln)) - CHRDL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1235C>T r.(?) p.(Thr412Ile) - likely benign g.109922569G>A g.110679341G>A CHRDL1(NM_001143981.1):c.1241C>T (p.(Thr414Ile)) - CHRDL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1339T>C r.(?) p.(Tyr447His) - likely benign g.109919491A>G g.110676263A>G CHRDL1(NM_001143981.1):c.1345T>C (p.Y449H, p.(Tyr449His)) - CHRDL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.*509_*512del r.(=) p.(=) - VUS g.109918954_109918957del g.110675726_110675729del - - CHRDL1_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*513_*516del r.(=) p.(=) - VUS g.109918946_109918949del g.110675718_110675721del - - CHRDL1_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*549_*554del r.(=) p.(=) - VUS g.109918933_109918938del g.110675705_110675710del - - CHRDL1_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*553_*558del r.(=) p.(=) - VUS g.109918904_109918909del g.110675676_110675681del - - CHRDL1_000001 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*578G>T r.(=) p.(=) - VUS g.109918881C>A g.110675653C>A - - CHRDL1_000007 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*608G>A r.(=) p.(=) - VUS g.109918851C>T g.110675623C>T - - CHRDL1_000009 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1769G>A r.(=) p.(=) - VUS g.109917690C>T g.110674462C>T - - CHRDL1_000008 - - - - Germline - - - - - Yu Sun
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