Full data view for gene COLQ

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_005677.3 transcript reference sequence.

205 entries on 3 pages. Showing entries 1 - 100.
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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.-136G>C r.(?) p.(=) Unknown - benign g.15563268C>G g.15521761C>G - - COLQ_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-123A>G r.(?) p.(=) Unknown - benign g.15563255T>C g.15521748T>C - - COLQ_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-121G>A r.(?) p.(=) Unknown - benign g.15563253C>T g.15521746C>T - - COLQ_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-106_-105dup r.(=) p.(=) Parent #1 - benign g.15563251_15563252dup g.15521744_15521745dup - - COLQ_000069 - - - rs3836381 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.-54A>C r.(=) p.(=) Parent #1 - benign g.15563186T>G g.15521679T>G - - COLQ_000068 - - - rs58156300 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.-46G>A r.(?) p.(=) Unknown - benign g.15563178C>T g.15521671C>T - - COLQ_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-46G>A r.(?) p.(=) Maternal (confirmed) - benign g.15563178C>T g.15521671C>T -46G/A - COLQ_000042 - PubMed: Ohno 1998 - - Germline - - AciI- - - DNA SEQ - - CMS - PubMed: Ohno 1998 - - - United States - - - - - 2 Johan den Dunnen
-/. - c.76+41_76+42dup r.(=) p.(=) Parent #1 - benign g.15563015_15563016dup g.15521508_15521509dup - - COLQ_000067 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.106+6T>C r.(=) p.(=) Unknown - likely benign g.15563021A>G g.15521514A>G COLQ(NM_005677.3):c.106+6T>C (p.(=)) - COLQ_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.107-9004A>C r.(=) p.(=) Parent #1 - VUS g.15540148T>G g.15498641T>G - - COLQ_000066 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.107-19G>A r.(=) p.(=) Unknown - likely benign g.15531163C>T g.15489656C>T COLQ(NM_005677.3):c.107-19G>A (p.(=)) - COLQ_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.107-1G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.15531145C>T g.15489638C>T IVS1-1G>A - COLQ_000025 - PubMed: Schreiner 2007 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Schreiner 2007 2-generation family, 2 affecteds; brother of 17300939-Pat2 M - Germany - - - - - 2 Johan den Dunnen
+/. 1i c.107-1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.15531145C>T g.15489638C>T IVS1-1G>A - COLQ_000025 - PubMed: Schreiner 2007, PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 younger sister of 17300939-Pat1 F no Germany - >5y - - - 1 Angela Abicht
+/. 1i c.107-1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.15531145C>T g.15489638C>T IVS1-1G>A - COLQ_000025 - PubMed: Schreiner 2007, PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 older brother of 17300939-Pat2 M no Germany - 3y - - - 1 Angela Abicht
+/. 1i c.107-1G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.15531145C>T g.15489638C>T IVS1-1G>A - COLQ_000025 - PubMed: Schreiner 2007 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Schreiner 2007 2-generation family, 2 affecteds; siser of 17300939-Pat1 F - Germany - - - - - 1 Johan den Dunnen
+/. 1i c.107-1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.15531145C>T g.15489638C>T IVS1-1G>A - COLQ_000025 no variants 2nd chromosome PubMed: Schreiner 2007 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Schreiner 2007 mother and brother of 17300939-Pat1/2 F - Germany - - - - - 2 Angela Abicht
+/. 1i c.(106+1_107-1)_(321+1_322-1)del r.107_321del p.fs* Maternal (confirmed) - pathogenic (recessive) g.(15520890_15529712)_(15531145_15563026)del - 107del215 - COLQ_000007 - PubMed: Ohno 1998, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 1998 - - - United States - - - - - 2 Johan den Dunnen
+/. 1i c.(106+1_107-1)_(321+1_322-1)del r.(del) p.fs* Parent #2 - pathogenic (recessive) g.(15520890_15529712)_(15531145_15563026)del - (107-?_321+?del) - COLQ_000007 - PubMed: Kimbell 2004 - - Germline - - - - - DNA SEQ - - CMS - Pat3 in PubMed: Hutchinson 1993 - M - United States - - - - - 2 Johan den Dunnen
+/. 2 c.109del r.(?) p.(Leu37Phefs*18) Parent #1 - pathogenic (recessive) g.15531144del g.15489637del 109delC - COLQ_000045 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - M - Serbia - - - - - 1 Angela Abicht
+/. 2 c.157dup r.(?) p.(fs*) Parent #1 - pathogenic (recessive) g.15531095dup g.15489588dup 158insC - COLQ_000029 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - M - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.157dup r.(?) p.(fs*) Parent #2 - pathogenic (recessive) g.15531095dup g.15489588dup 158insC - COLQ_000029 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - M - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.157dup r.(?) p.(Leu53Profs*81) Both (homozygous) ACMG pathogenic (recessive) g.15531095dup g.15489588dup - - COLQ_000029 - - - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel CMS5;EAD - - sibling 00443936 M ? Argentina - - - - salbutamol 2 María Eugenia Foncuberta
+/. 2 c.158_159insC r.(?) p.(Leu54Alafs*80) Parent #1 - pathogenic (recessive) g.15531092_15531093insG g.15489585_15489586insG - - COLQ_000052 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 2 c.158_159insC r.(?) p.(Leu54Alafs*80) Parent #2 - pathogenic (recessive) g.15531092_15531093insG g.15489585_15489586insG - - COLQ_000052 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 2 c.158_159insC r.(?) p.(Leu54Alafs*80) Parent #1 - pathogenic (recessive) g.15531092_15531093insG g.15489585_15489586insG - - COLQ_000052 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 2 c.176C>A r.(?) p.(Pro59Gln) Parent #1 - pathogenic (recessive) g.15531075G>T g.15489568G>T - - COLQ_000013 - PubMed: Ohno 2000 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 2000 - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.176C>A r.(?) p.(Pro59Gln) Parent #2 - pathogenic (recessive) g.15531075G>T g.15489568G>T - - COLQ_000013 - PubMed: Ohno 2000 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 2000 - - - United States - - - - - 1 Johan den Dunnen
+/. 2i c.219+1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.15531031C>G g.15489524C>G IVS2+1G>C - COLQ_000037 not in 120 control chromosomes PubMed: Mihaylova 2008, PubMed: Mihaylova 2010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008, PubMed: Mihaylova 2010 - M - India African - - - - 1 Angela Abicht
+/. 2i c.219+1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.15531031C>G g.15489524C>G IVS2+1G>C - COLQ_000037 not in 120 control chromosomes PubMed: Mihaylova 2008, PubMed: Mihaylova 2010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008, PubMed: Mihaylova 2010 - M - India African - - - - 1 Angela Abicht
+/. 2i c.219+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.15531031C>G g.15489524C>G - - COLQ_000037 - - - - Unknown - - - - - DNA PCR, SEQ - - CMS - - - - - United States Hispanic - - - - 1 Tom Winder
+?/. 3i c.219+1G>C r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.15531031C>G g.15489524C>G - - COLQ_000037 - - - - Germline - - - - - DNA PCR, SEQ - - CMS - - - F ? United States Hispanic - - - - 1 Tom Winder
+?/. 2i c.219+2T>G r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.15531030A>C g.15489523A>C - - COLQ_000056 - - - - Germline - - - - - DNA PCR, SEQ - - CMS - - - M ? Syria Arab - - - - 1 Tom Winder
-/. - c.219+59G>A r.(=) p.(=) Parent #1 - benign g.15530973C>T g.15489466C>T - - COLQ_000065 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 3 c.275dup r.(?) p.(fs*) Paternal (confirmed) - pathogenic (recessive) g.15529762dup g.15488255dup 275insC - COLQ_000017 - PubMed: Shapira 2002 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shapira 2002 - M - Italy - - - - - 2 Johan den Dunnen
+/. 3 c.279C>A r.(?) p.(Cys93*) Parent #1 - pathogenic (recessive) g.15529755G>T g.15488248G>T - - COLQ_000053 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 3 c.279C>A r.(?) p.(Cys93*) Parent #2 - pathogenic (recessive) g.15529755G>T g.15488248G>T - - COLQ_000053 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
-/. - c.291G>A r.(=) p.(=) Parent #1 - benign g.15529743C>T g.15488236C>T - - COLQ_000064 - - - rs115201284 Germline - frequencies 0,8 to 1,2% - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.291G>A r.(?) p.(Ser97=) Unknown - likely benign g.15529743C>T g.15488236C>T COLQ(NM_005677.3):c.291G>A (p.(Ser97=)) - COLQ_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300C>T r.(?) p.(=) Unknown - likely benign g.15529734G>A - COLQ(NM_005677.3):c.300C>T (p.(Ser100=)) - COLQ_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.338del r.(?) p.(Pro113Leufs*51) Parent #2 - pathogenic (recessive) g.15520874del g.15479367del 338delC - COLQ_000054 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
-/. - c.366+7A>G r.(=) p.(=) Unknown - benign g.15520838T>C g.15479331T>C COLQ(NM_005677.3):c.366+7A>G (p.(=)), COLQ(NM_080538.2):c.336+7A>G - COLQ_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.366+7A>G r.(=) p.(=) Unknown - benign g.15520838T>C g.15479331T>C COLQ(NM_005677.3):c.366+7A>G (p.(=)), COLQ(NM_080538.2):c.336+7A>G - COLQ_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366+7A>G r.(=) p.(=) Unknown - likely benign g.15520838T>C - COLQ(NM_005677.3):c.366+7A>G (p.(=)), COLQ(NM_080538.2):c.336+7A>G - COLQ_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.367-3T>G r.spl? p.? Parent #1 - pathogenic (recessive) g.15520513A>C g.15479006A>C IVS4-3T>G - COLQ_000039 - PubMed: Yueng 2010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Yueng 2010 family, 2 affected siblings (M) M - China - - - - - 2 Johan den Dunnen
+/. 5 c.375del r.(?) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.15520503del g.15478996del 375delT - COLQ_000014 normal 2nd chromosome - - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 2000 - - - United States - - - - - 1 Johan den Dunnen
+/. 5 c.375del r.(?) p.(fs*) Parent #1 - pathogenic (recessive) g.15520503del g.15478996del 375delT - COLQ_000014 no variants 2nd chromosome PubMed: Ohno 2000 - - Germline - - - - - DNA SEQ - - ? - PubMed: Ohno 2000 asymptomatic mother 10665486-Pat3 - - United States - - - - - 1 Johan den Dunnen
+/. 5 c.377del r.(?) p.(Gly126Alafs*38) Parent #1 - pathogenic (recessive) g.15520501del g.15478994del 377delG - COLQ_000055 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
?/. - c.380G>T r.(?) p.(Arg127Leu) Unknown - VUS g.15520497C>A - - - COLQ_000091 - PubMed: Zaharieva 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1PatII1 PubMed: Zaharieva 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 5i c.393+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.15520483C>T g.15478976C>T IVS5+1G>A - COLQ_000040 - PubMed: Yueng 2010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Yueng 2010 family, 2 affected siblings (M) M - China - - - - - 2 Johan den Dunnen
+/. 5i c.394-27C>G r.(?) p.(=) Paternal (confirmed) - pathogenic (recessive) g.15518731G>C g.15477224G>C IVS5-27C>G - COLQ_000023 - PubMed: Muller 2004, PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Muller 2004, PubMed: Mihaylova 2008 2-generation family, 2 affecteds; sister of 15248101-Fam1Pat1 F - Germany - - - - - 1 Angela Abicht
+/. 5i c.394-27C>G r.(?) p.(=) Maternal (confirmed) - pathogenic (recessive) g.15518731G>C g.15477224G>C IVS5-27C>G - COLQ_000023 - PubMed: Muller 2004, PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Muller 2004, PubMed: Mihaylova 2008 2-generation family, 2 affecteds; sister of 15248101-Fam1Pat1 F - Germany - - - - - 1 Angela Abicht
+/. 5i c.394-27C>G r.(?) p.(=) Paternal (confirmed) - pathogenic (recessive) g.15518731G>C g.15477224G>C IVS5-27C>G - COLQ_000023 - PubMed: Muller 2004, PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Muller 2004, PubMed: Mihaylova 2008 2-generation family, 2 affecteds; brother of 15248101-Fam1Pat2 M - Germany - - - - - 1 Angela Abicht
+/. 5i c.394-27C>G r.(?) p.(=) Maternal (confirmed) - pathogenic (recessive) g.15518731G>C g.15477224G>C IVS5-27C>G - COLQ_000023 - PubMed: Muller 2004, PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Muller 2004, PubMed: Mihaylova 2008 2-generation family, 2 affecteds; brother of 15248101-Fam1Pat2 M - Germany - - - - - 1 Angela Abicht
+/. 6 c.444G>A r.(?) p.(Trp148*) Parent #1 - pathogenic (recessive) g.15518654C>T g.15477147C>T - - COLQ_000015 - PubMed: Ohno 2000 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 2000 - - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.444G>A r.(?) p.(Trp148*) Parent #2 - pathogenic (recessive) g.15518654C>T g.15477147C>T - - COLQ_000015 - PubMed: Ohno 2000 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 2000 - - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.444G>A r.(?) p.(Trp148*) Parent #2 - pathogenic (recessive) g.15518654C>T g.15477147C>T - - COLQ_000015 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - M - Germany - - - - - 1 Angela Abicht
+/. 6 c.444G>A r.(?) p.(Trp148*) Parent #1 - pathogenic (recessive) g.15518654C>T g.15477147C>T - - COLQ_000015 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 6 c.444G>A r.(?) p.(Trp148*) Parent #2 - pathogenic (recessive) g.15518654C>T g.15477147C>T - - COLQ_000015 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. - c.444G>A r.(?) p.(Trp148*) Both (homozygous) - pathogenic g.15518654C>T g.15477147C>T - - COLQ_000015 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+/. 7 c.506C>G r.(?) p.(Ser169*) Paternal (inferred) - pathogenic (recessive) g.15516954G>C g.15475447G>C - - COLQ_000003 - PubMed: Ohno 1998, OMIM:var0003 - - Germline - - HphI+ - - DNA SEQ - - CMS - PubMed: Ohno 1998 carrier mother and borther - - United States - - - - - 2 Johan den Dunnen
+/. 7 c.506C>G r.(?) p.(Ser169*) Maternal (confirmed) - pathogenic (recessive) g.15516954G>C g.15475447G>C - - COLQ_000003 - PubMed: Ohno 1998, OMIM:var0003 - - Germline - - HphI+ - - DNA SEQ - - CMS - PubMed: Ohno 1998 carrier mother and borther - - United States - - - - - 2 Johan den Dunnen
+/. 7i c.529-23A>G r.(?) p.(=) Paternal (confirmed) - pathogenic (recessive) g.15516481T>C g.15474974T>C IVS7-23A>G - COLQ_000024 - PubMed: Muller 2004, PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Muller 2004, PubMed: Mihaylova 2008 2-generation family, 2 affecteds; sister of 15248101-Fam1Pat1 F - Germany - - - - - 1 Angela Abicht
+/. 7i c.529-23A>G r.(?) p.(=) Maternal (confirmed) - pathogenic (recessive) g.15516481T>C g.15474974T>C IVS7-23A>G - COLQ_000024 - PubMed: Muller 2004, PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Muller 2004, PubMed: Mihaylova 2008 2-generation family, 2 affecteds; sister of 15248101-Fam1Pat1 F - Germany - - - - - 1 Angela Abicht
+/. 7i c.529-23A>G r.(?) p.(=) Paternal (confirmed) - pathogenic (recessive) g.15516481T>C g.15474974T>C IVS7-23A>G - COLQ_000024 - PubMed: Muller 2004, PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Muller 2004, PubMed: Mihaylova 2008 2-generation family, 2 affecteds; brother of 15248101-Fam1Pat2 M - Germany - - - - - 1 Angela Abicht
+/. 7i c.529-23A>G r.(?) p.(=) Maternal (confirmed) - pathogenic (recessive) g.15516481T>C g.15474974T>C IVS7-23A>G - COLQ_000024 - PubMed: Muller 2004, PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Muller 2004, PubMed: Mihaylova 2008 2-generation family, 2 affecteds; brother of 15248101-Fam1Pat2 M - Germany - - - - - 1 Angela Abicht
?/. - c.529-9T>C r.(=) p.(=) Unknown - VUS g.15516467A>G - COLQ(NM_005677.4):c.529-9T>C - COLQ_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.573G>C r.(?) p.(Lys191Asn) Unknown - VUS g.15515762C>G g.15474255C>G COLQ(NM_080538.2):c.543G>C (p.K181N) - COLQ_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.600+40G>A r.(=) p.(=) Unknown - benign g.15515695C>T g.15474188C>T COLQ(NM_080538.2):c.570+40G>A - COLQ_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.631C>T r.(?) p.(Gln211*) Maternal (confirmed) - pathogenic (recessive) g.15515512G>A g.15474005G>A - - COLQ_000018 - PubMed: Shapira 2002, OMIM:var0010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shapira 2002 - M - Italy - - - - - 2 Johan den Dunnen
+/. 10 c.631C>T r.(?) p.(Gln211*) Parent #1 - pathogenic (recessive) g.15515512G>A g.15474005G>A - - COLQ_000018 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - F - Hungary - - - - - 1 Angela Abicht
+/. 10 c.631C>T r.(?) p.(Gln211*) Parent #2 - pathogenic (recessive) g.15515512G>A g.15474005G>A - - COLQ_000018 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 10 c.631C>T r.(?) p.(Gln211*) Parent #1 - pathogenic (recessive) g.15515512G>A g.15474005G>A - - COLQ_000018 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 10 c.631C>T r.(?) p.(Gln211*) Parent #2 - pathogenic (recessive) g.15515512G>A g.15474005G>A - - COLQ_000018 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. - c.636del r.(?) p.(Gly213Valfs*11) Parent #1 - pathogenic g.15515509del g.15474002del - - COLQ_000063 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 11 c.640G>T r.(?) p.(Glu214*) Paternal (confirmed) - pathogenic (recessive) g.15512120C>A g.15470613C>A - - COLQ_000004 - PubMed: Ohno 1998, OMIM:var0002 - - Germline - - HphI- - - DNA SEQ - - CMS - PubMed: Ohno 1998 - - - United States - - - - - 2 Johan den Dunnen
+/. 11 c.640G>T r.(?) p.(Glu214*) Paternal (confirmed) - pathogenic (recessive) g.15512120C>A g.15470613C>A - - COLQ_000004 - PubMed: Ohno 1998, OMIM:var0002 - - Germline - - HphI- - - DNA SEQ - - CMS - PubMed: Ohno 1998 - - - United States - - - - - 2 Johan den Dunnen
+/. 11 c.640G>T r.(?) p.(Glu214*) Maternal (confirmed) - pathogenic (recessive) g.15512120C>A g.15470613C>A - - COLQ_000004 - PubMed: Ohno 1998, OMIM:var0002 - - Germline - - HphI- - - DNA SEQ - - CMS - PubMed: Ohno 1998 - - - United States - - - - - 2 Johan den Dunnen
+?/. - c.640G>T r.(?) p.(Glu214Ter) Parent #1 - likely pathogenic g.15512120C>A g.15470613C>A - - COLQ_000004 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P123 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
?/. - c.650C>G r.(?) p.(Pro217Arg) Unknown - VUS g.15512110G>C g.15470603G>C - - COLQ_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.679C>T r.(?) p.(Arg227*) Parent #1 - pathogenic (recessive) g.15512081G>A g.15470574G>A - - COLQ_000030 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - F - Pakistan - - - - - 1 Angela Abicht
+/. 11 c.679C>T r.(?) p.(Arg227*) Parent #2 - pathogenic (recessive) g.15512081G>A g.15470574G>A - - COLQ_000030 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - F - Pakistan - - - - - 1 Angela Abicht
+/. 11 c.679C>T r.(?) p.(Arg227*) Parent #1 - pathogenic (recessive) g.15512081G>A g.15470574G>A - - COLQ_000030 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - F - Pakistan - - - - - 1 Angela Abicht
+/. 11 c.679C>T r.(?) p.(Arg227*) Parent #2 - pathogenic (recessive) g.15512081G>A g.15470574G>A - - COLQ_000030 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - F - Pakistan - - - - - 1 Angela Abicht
?/. 11 c.679C>T r.(?) p.(Arg227*) Maternal (confirmed) - VUS g.15512081G>A g.15470574G>A - - COLQ_000030 - PubMed: Nakata 2013 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Nakata 2013 - M - Japan - - - - - 1 Mikako Ito
+/. 11 c.706C>T r.(?) p.(Arg236*) Parent #1 - pathogenic (recessive) g.15512054G>A g.15470547G>A - - COLQ_000046 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - F - Turkey - - - - - 1 Angela Abicht
+/. 11 c.706C>T r.(?) p.(Arg236*) Parent #2 - pathogenic (recessive) g.15512054G>A g.15470547G>A - - COLQ_000046 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - F - Turkey - - - - - 1 Angela Abicht
+/. 11 c.710G>A r.(?) p.(Gly237Asp) Parent #2 - pathogenic (recessive) g.15512050C>T g.15470543C>T - - COLQ_000031 not in 120 control chromosomes PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - M - Czech Republic - - - - - 1 Angela Abicht
-/. - c.718-1383G>C r.(=) p.(=) Unknown - benign g.15509327C>G g.15467820C>G COLQ(NM_080538.2):c.688-1383G>C - COLQ_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.718G>T r.spl? p.(Gly240*) Paternal (confirmed) - pathogenic (recessive) g.15507944C>A g.15466437C>A - - COLQ_000019 - PubMed: Shapira 2002, OMIM:var0010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shapira 2002 4-generation family, 2 affecteds (F, M) - - Palestine Arab - - - - 4 Johan den Dunnen
+/. 12 c.718G>T r.spl? p.(Gly240*) Maternal (confirmed) - pathogenic (recessive) g.15507944C>A g.15466437C>A - - COLQ_000019 - PubMed: Shapira 2002, OMIM:var0010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shapira 2002 4-generation family, 2 affecteds (F, M) - - Palestine Arab - - - - 4 Johan den Dunnen
+/. 12 c.718G>T r.spl? p.(Gly240*) Paternal (confirmed) - pathogenic (recessive) g.15507944C>A g.15466437C>A - - COLQ_000019 - PubMed: Shapira 2002, OMIM:var0010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shapira 2002 3-generation family, first cousin marriage F - Palestine Arab - - - - 2 Johan den Dunnen
+/. 12 c.718G>T r.spl? p.(Gly240*) Maternal (confirmed) - pathogenic (recessive) g.15507944C>A g.15466437C>A - - COLQ_000019 - PubMed: Shapira 2002, OMIM:var0010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shapira 2002 3-generation family, first cousin marriage F - Palestine Arab - - - - 2 Johan den Dunnen
+/. 12 c.718G>T r.spl? p.(Gly240*) Paternal (inferred) - pathogenic (recessive) g.15507944C>A g.15466437C>A - - COLQ_000019 - PubMed: Shapira 2002, OMIM:var0010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shapira 2002 - F - Iraq Jewish - - - - 1 Johan den Dunnen
+/. 12 c.718G>T r.spl? p.(Gly240*) Maternal (inferred) - pathogenic (recessive) g.15507944C>A g.15466437C>A - - COLQ_000019 - PubMed: Shapira 2002, OMIM:var0010 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shapira 2002 - F - Iraq Jewish - - - - 1 Johan den Dunnen
+?/. 12 c.721del r.(?) p.(Gln241Argfs*35) Parent #1 - likely pathogenic (recessive) g.15507941del g.15466434del 721delC - COLQ_000035 - - - - Germline - - - - - DNA PCR, SEQ - - CMS - - - F - United States - - - - - 1 Tom Winder
?/. - c.737G>C r.(?) p.(Gly246Ala) Unknown - VUS g.15507925C>G g.15466418C>G COLQ(NM_005677.3):c.737G>C (p.(Gly246Ala)) - COLQ_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.738del r.(?) p.(Val247Leufs*29) Both (homozygous) ACMG pathogenic g.15507924del g.15466417del - - COLQ_000032 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - CMS5;EAD - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. 12 c.738del r.(?) p.(fs*) Parent #1 - pathogenic (recessive) g.15507924del g.15466417del 738delA - COLQ_000032 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - M - Saudi Arabia - - - - - 1 Angela Abicht
+/. 12 c.738del r.(?) p.(fs*) Parent #2 - pathogenic (recessive) g.15507924del g.15466417del 738delA - COLQ_000032 - PubMed: Mihaylova 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Mihaylova 2008 - M - Saudi Arabia - - - - - 1 Angela Abicht
?/. - c.785G>A r.(?) p.(Arg262His) Parent #1 - VUS g.15507877C>T g.15466370C>T - - COLQ_000090 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201158622 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
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