Full data view for gene COLEC11

Information The variants shown are described using the NM_024027.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+? ? c.-148-?_202+?del r.(?) p.? Both (homozygous) - pathogenic g.3642637_3660972del g.3595047_3613382del Exon 1-3 deletion - COLEC11_000004 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ - - 3MC2 - PubMed: Rooryck 2011 Family MC11 - - Italy - - - - - 1 Johan den Dunnen
+/. _1_3i c.-363_(202+1_203-1){0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_3642422)_(3660973_3685122)del g.(?_3594832)_(3613383_3637532)del del ex1-3 - COLEC11_000019 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC11Pat11 PubMed: Rooryck 2011 - M yes Italy - - - - - 1 Johan den Dunnen
+/+? 2 c.45del r.(?) p.(Phe16Serfs*85) Both (homozygous) - pathogenic g.3651975del g.3604385del c.45delC - COLEC11_000001 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ - - 3MC2 - PubMed: Rooryck 2011 Family MC2 - - Bangladesh - - - - - 1 Johan den Dunnen
+/+? 2 c.45del r.(?) p.(Phe16Serfs*85) Both (homozygous) - pathogenic g.3651975del g.3604385del c.45delC - COLEC11_000001 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ - - 3MC2 - PubMed: Rooryck 2011 Family MC2 - - Bangladesh - - - - - 1 Johan den Dunnen
+/. - c.45del r.(?) p.(Phe16Serfs*85) Both (homozygous) - pathogenic (recessive) g.3651975del g.3604385del 45delC - COLEC11_000001 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC2Pat2.1 PubMed: Rooryck 2011 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes Bangladesh - - - - - 2 Johan den Dunnen
+/. - c.45del r.(?) p.(Phe16Serfs*85) Both (homozygous) - pathogenic (recessive) g.3651975del g.3604385del 45delC - COLEC11_000001 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC2Pat2.2 PubMed: Rooryck 2011 brother M yes Bangladesh - - - - - 1 Johan den Dunnen
+/. - c.89_98del r.(?) p.(Asp30Alafs*68) Both (homozygous) - pathogenic (recessive) g.3652019_3652028del g.3604429_3604438del 89_98delATGACGCCTG - COLEC11_000020 - PubMed: Munye 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC29.1 PubMed: Munye 2017 2-generation family, 1 affected, unaffected parents - yes Lebanon - - - - - 1 Johan den Dunnen
-/. - c.130+556G>C r.(=) p.(=) Unknown - benign g.3652616G>C g.3605026G>C COLEC11(NM_199235.3):c.42+556G>C - COLEC11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.130+1748C>T r.(=) p.(=) Unknown - likely benign g.3653808C>T g.3606218C>T COLEC11(NM_001255986.1):c.27C>T (p.Y9=) - COLEC11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.130+1784T>C r.(=) p.(=) Unknown - benign g.3653844T>C g.3606254T>C COLEC11(NM_199235.3):c.42+1784T>C - COLEC11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161C>A r.(?) p.(Ala54Asp) Unknown - likely benign g.3660931C>A g.3613341C>A COLEC11(NM_199235.2):c.73C>A (p.P25T) - COLEC11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165C>T r.(?) p.(Pro55=) Unknown - likely benign g.3660935C>T g.3613345C>T COLEC11(NM_199235.2):c.77C>T (p.P26L) - COLEC11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203-11475G>A r.(=) p.(=) Unknown - benign g.3673648G>A g.3626058G>A COLEC11(NM_199235.3):c.159G>A (p.K53=) - COLEC11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.203-11466G>A r.(=) p.(=) Unknown - likely benign g.3673657G>A g.3626067G>A COLEC11(NM_199235.2):c.168G>A (p.S56=) - COLEC11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.203-11445A>G r.(=) p.(=) Unknown - likely benign g.3673678A>G g.3626088A>G COLEC11(NM_199235.3):c.189A>G (p.S63=) - COLEC11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203-11443A>G r.(=) p.(=) Unknown - benign g.3673680A>G g.3626090A>G COLEC11(NM_199235.3):c.191A>G (p.Q64R) - COLEC11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242G>A r.(?) p.(Arg81His) Unknown - VUS g.3685162G>A - COLEC11(NM_199235.2):c.233G>A (p.R78H) - COLEC11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.275G>T r.(?) p.(Gly92Val) Unknown - VUS g.3687868G>T - COLEC11(NM_024027.5):c.275G>T (p.(Gly92Val)) - COLEC11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.309del r.(?) p.(Gly104Valfs*29) Both (homozygous) - pathogenic (recessive) g.3687902del g.3640312del c.309del - COLEC11_000022 - PubMed: Munye 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC35.1 PubMed: Munye 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.309del r.(?) p.(Ile100Metfs*33) Both (homozygous) - pathogenic (recessive) g.3687893del g.3640303del 309delT - COLEC11_000022 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC10Pat10 PubMed: Rooryck 2011 - F no Italy - - - - - 1 Johan den Dunnen
-?/. - c.328+5G>A r.spl? p.? Unknown - likely benign g.3687926G>A g.3640336G>A COLEC11(NM_199235.2):c.319+5G>A - COLEC11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328+6G>A r.(=) p.(=) Unknown - likely benign g.3687927G>A - COLEC11(NM_024027.5):c.328+6G>A - COLEC11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432C>T r.(?) p.(Ala144=) Unknown - likely benign g.3691324C>T g.3643734C>T COLEC11(NM_001255982.1):c.360C>T (p.(Ala120=)), COLEC11(NM_199235.2):c.423C>T (p.A141=), COLEC11(NM_199235.3):c.423C>T (p.A141=) - COLEC11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432C>T r.(?) p.(Ala144=) Unknown - likely benign g.3691324C>T g.3643734C>T COLEC11(NM_001255982.1):c.360C>T (p.(Ala120=)), COLEC11(NM_199235.2):c.423C>T (p.A141=), COLEC11(NM_199235.3):c.423C>T (p.A141=) - COLEC11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432C>T r.(?) p.(Ala144=) Unknown - likely benign g.3691324C>T - COLEC11(NM_001255982.1):c.360C>T (p.(Ala120=)), COLEC11(NM_199235.2):c.423C>T (p.A141=), COLEC11(NM_199235.3):c.423C>T (p.A141=) - COLEC11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.446C>T r.(?) p.(Thr149Met) Unknown - VUS g.3691338C>T - COLEC11(NM_024027.5):c.446C>T (p.(Thr149Met)) - COLEC11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.496G>A r.(?) p.(Ala166Thr) Both (homozygous) - likely pathogenic (recessive) g.3691388G>A g.3643798G>A G496A - COLEC11_000023 - PubMed: Munye 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC37.1 PubMed: Munye 2017 2-generation family, 1 affected, unaffected parents - yes Somalia - - - - - 1 Johan den Dunnen
-?/. - c.502C>T r.(?) p.(Leu168=) Unknown - likely benign g.3691394C>T - COLEC11(NM_199235.2):c.493C>T (p.L165=) - COLEC11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.505T>C r.(?) p.(Ser169Pro) Both (homozygous) - pathogenic (recessive) g.3691397T>C g.3643807T>C - - COLEC11_000024 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC1Pat1.1 PubMed: Rooryck 2011 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Tunisia - - - - - 2 Johan den Dunnen
+/. - c.505T>C r.(?) p.(Ser169Pro) Both (homozygous) - pathogenic (recessive) g.3691397T>C g.3643807T>C - - COLEC11_000024 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC1Pat1.2 PubMed: Rooryck 2011 sister F yes Tunisia - - - - - 1 Johan den Dunnen
-?/. - c.514G>A r.(?) p.(Gly172Ser) Unknown - likely benign g.3691406G>A g.3643816G>A COLEC11(NM_199235.2):c.505G>A (p.G169S) - COLEC11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? ? c.610G>A r.(?) p.(Gly204Ser) Both (homozygous) - pathogenic g.3691502G>A g.3643912G>A - - COLEC11_000002 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ - - 3MC2 - PubMed: Rooryck 2011 Family MC4 - - Afghanistan - - - - - 1 Johan den Dunnen
+/+? ? c.610G>A r.(?) p.(Gly204Ser) Both (homozygous) - pathogenic g.3691502G>A g.3643912G>A - - COLEC11_000002 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ - - 3MC2 - PubMed: Rooryck 2011 Family MC4 - - Afghanistan - - - - - 1 Johan den Dunnen
+/+? ? c.610G>A r.(?) p.(Gly204Ser) Both (homozygous) - pathogenic g.3691502G>A g.3643912G>A - - COLEC11_000002 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ - - 3MC2 - PubMed: Rooryck 2011 Family MC9 - - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.610G>A r.(?) p.(Gly204Ser) Both (homozygous) - pathogenic (recessive) g.3691502G>A g.3643912G>A - - COLEC11_000002 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC4Pat4.1 PubMed: Rooryck 2011 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M yes Afghanistan - - - - - 2 Johan den Dunnen
+/. - c.610G>A r.(?) p.(Gly204Ser) Both (homozygous) - pathogenic (recessive) g.3691502G>A g.3643912G>A - - COLEC11_000002 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC4Pat4.2 PubMed: Rooryck 2011 brother M yes Afghanistan - - - - - 1 Johan den Dunnen
+/. - c.610G>A r.(?) p.(Gly204Ser) Both (homozygous) - pathogenic (recessive) g.3691502G>A g.3643912G>A - - COLEC11_000002 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC9Pat9.1 PubMed: Rooryck 2011 - F no Pakistan - - - - - 1 Johan den Dunnen
+/+? ? c.648_650del r.(?) p.(Ser217del) Both (homozygous) - pathogenic g.3691540_3691542del g.3643950_3643952del c.648_650delCTC - COLEC11_000003 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ - - 3MC2 - PubMed: Rooryck 2011 Family MC8 - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.648_650del r.(?) p.(Ser217del) Both (homozygous) - pathogenic (recessive) g.3691540_3691542del g.3643950_3643952del 648_650delCTC - COLEC11_000003 - PubMed: Rooryck 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - - 3MC FamMC8Pat8.1 PubMed: Rooryck 2011 - F yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.665T>C r.(?) p.(Met222Thr) Unknown - VUS g.3691557T>C g.3643967T>C COLEC11(NM_001255982.1):c.593T>C (p.(Met198Thr)) - COLEC11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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