Unique variants in the COL11A1 gene

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

263 entries on 3 pages. Showing entries 1 - 100.
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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     
?/. 4 - c.? r.?, r.spl p.? - VUS g.? - 1944+11T>C, c.2098-6A>C, c.2762A>G (Q921R), c.4822A>G (K1608E) - NPHS2_000000 0/1266 control chromosomes, 1/1266 control chromosomes PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Xu 2015 - rs71664954 Germline - 1/314 case chromosomes - - - -
-?/. 1 - c.70T>C r.(?) p.(Leu24=) - likely benign g.103573665A>G g.103108109A>G COL11A1(NM_080629.2):c.70T>C (p.L24=) - COL11A1_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.97G>A r.(?) p.(Val33Ile) - likely benign, VUS g.103573638C>T g.103108082C>T COL11A1(NM_001190709.1):c.97G>A (p.(Val33Ile)), COL11A1(NM_080629.2):c.97G>A (p.V33I) - COL11A1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 2 - c.130G>A r.(?) p.(Ala44Thr) - benign g.103548505C>T g.103082949C>T COL11A1(NM_080629.2):c.130G>A (p.A44T) - COL11A1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 4 - c.138T>G r.(?) p.(Asp46Glu) - benign g.103548497A>C g.103082941A>C COL11A1(NM_080629.2):c.138T>G (p.D46E) - COL11A1_000100 123 heterozygous; Clinindb (India), 3 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs11164663 CLASSIFICATION record, Germline - 123/2789 individuals, 3/2789 individuals - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, Mohammed Faruq
?/? 1 2 c.215C>G r.(?) p.(Thr72Ser) - VUS g.103548420G>C g.103082864G>C - - COL11A1_000255 - MORL Deafness Variation Database, PubMed: Bean 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.226G>C r.(?) p.(Val76Leu) - VUS g.103548409C>G g.103082853C>G COL11A1(NM_080629.2):c.226G>C (p.V76L) - COL11A1_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.274+1G>A r.spl? p.? - pathogenic g.103548360C>T g.103082804C>T COL11A1(NM_080629.2):c.274+1G>A - COL11A1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.275-17del r.(=) p.(=) - benign g.103544446del g.103078890del COL11A1(NM_080629.2):c.275-17delT - COL11A1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.275-7T>C r.(=) p.(=) - benign g.103544434A>G g.103078878A>G COL11A1(NM_080629.2):c.275-7T>C - COL11A1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.318A>G r.(?) p.(Lys106=) - likely benign g.103544384T>C g.103078828T>C COL11A1(NM_080629.2):c.318A>G (p.K106=) - COL11A1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.323A>G r.(?) p.(Lys108Arg) - likely benign g.103544379T>C g.103078823T>C COL11A1(NM_080629.2):c.323A>G (p.K108R) - COL11A1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 3 - c.328G>C r.(?) p.(Gly110Arg) - likely benign, VUS g.103544374C>G g.103078818C>G COL11A1(NM_001190709.1):c.328G>C (p.(Gly110Arg)), COL11A1(NM_080629.2):c.328G>C (p.G110R) - COL11A1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.478G>A r.(?) p.(Ala160Thr) - VUS g.103544224C>T g.103078668C>T COL11A1(NM_080629.2):c.478G>A (p.A160T) - COL11A1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.484G>A r.(?) p.(Gly162Arg) - likely pathogenic, pathogenic g.103544218C>T g.103078662C>T COL11A1(NM_080629.2):c.484G>A (p.G162R) - COL11A1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.489-4T>A r.spl? p.? - likely benign g.103540340A>T g.103074784A>T COL11A1(NM_001190709.1):c.489-4T>A (p.?) - COL11A1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.512T>C r.(?) p.(Val171Ala) - VUS g.103540313A>G g.103074757A>G COL11A1(NM_080629.2):c.512T>C (p.V171A) - COL11A1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, ?/. 2 4 c.560C>T r.(?) p.(Thr187Met) - pathogenic, VUS g.103540265G>A g.103074709G>A COL11A1(NM_001190709.1):c.560C>T (p.(Thr187Met)) - COL11A1_000176 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Leiden
-?/. 1 - c.612G>T r.(?) p.(Thr204=) - likely benign g.103540213C>A g.103074657C>A COL11A1(NM_080629.2):c.612G>T (p.T204=) - COL11A1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.651+16A>G r.(=) p.(=) - benign g.103540158T>C g.103074602T>C COL11A1(NM_080629.2):c.651+16A>G - COL11A1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.652-14_652-13insGTTT r.(=) p.(=) - likely benign g.103496816_103496817insCAAA g.103031260_103031261insCAAA - - COL11A1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.652-13T>G r.(=) p.(=) - benign g.103496813A>C g.103031257A>C COL11A1(NM_080629.2):c.652-13T>G - COL11A1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.652-9_652-6dup r.(=) p.(=) - likely benign g.103496815_103496818dup g.103031259_103031262dup COL11A1(NM_080629.2):c.652-9_652-6dupTTTT - COL11A1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 4 - c.652-8_652-6dup r.(=) p.(=) - benign, likely benign g.103496816_103496818dup g.103031260_103031262dup 1 more item - COL11A1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.652-7T>C r.(=) p.(=) - benign g.103496807A>G g.103031251A>G COL11A1(NM_080629.2):c.652-7T>C - COL11A1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.652-7_652-6del r.(=) p.(=) - benign g.103496817_103496818del g.103031261_103031262del COL11A1(NM_080629.2):c.652-7_652-6delTT - COL11A1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/., -?/. 3 - c.652-7_652-6dup r.(=) p.(=) - benign, likely benign g.103496817_103496818dup g.103031261_103031262dup 1 more item - COL11A1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 6 - c.652-6del r.(=) p.(=) - benign, likely benign g.103496818del g.103031262del COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT - COL11A1_000087, COL11A1_000090, COL11A1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-/., -?/. 5 - c.652-6dup r.(=) p.(=) - benign, likely benign g.103496818dup g.103031262dup COL11A1(NM_001190709.1):c.652-6dup (p.(=)), COL11A1(NM_080629.2):c.652-6dupT - COL11A1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 3 - c.660T>C r.(?) p.(Ile220=) - benign g.103496792A>G g.103031236A>G COL11A1(NM_080629.2):c.660T>C (p.I220=) - COL11A1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.682G>A r.(?) p.(Asp228Asn) - likely benign g.103496770C>T g.103031214C>T COL11A1(NM_001190709.1):c.682G>A (p.(Asp228Asn)) - COL11A1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.698A>G r.(?) p.(Tyr233Cys) - likely benign g.103496754T>C g.103031198T>C - - COL11A1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.747G>A r.(?) p.(Lys249=) - likely benign g.103496705C>T g.103031149C>T COL11A1(NM_080629.2):c.747G>A (p.K249=) - COL11A1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.780+52C>A r.(=) p.(=) - benign g.103496620G>T g.103031064G>T COL11A1(NM_080629.2):c.780+52C>A - COL11A1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 5i c.781-789T>G r.(=) p.(=) - pathogenic g.103491958A>C g.103026402A>C - - COL11A1_000254 - MORL Deafness Variation Database, PubMed: Tilson MD 3rd 2006 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.781-672A>T r.(=) p.(=) - likely benign g.103491841T>A - COL11A1(NM_001854.4):c.828A>T (p.A276=) - COL11A1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 5i c.781-607C>T r.(=) p.(=) - VUS g.103491776G>A g.103026220G>A - - COL11A1_000253 - MORL Deafness Variation Database, PubMed: Bean 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. 1 - c.781-292A>C r.(=) p.(=) - benign g.103491461T>G g.103025905T>G COL11A1(NM_080629.2):c.828A>C (p.K276N) - COL11A1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.781-171C>G r.(=) p.(=) - likely benign g.103491340G>C g.103025784G>C COL11A1(NM_080629.2):c.933+16C>G - COL11A1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.838del r.(?) p.(Thr280GlnfsTer25) - VUS g.103491112del g.103025556del - - COL11A1_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.873+8G>A r.(=) p.(=) - benign, likely benign g.103491069C>T g.103025513C>T COL11A1(NM_080629.2):c.1026+8G>A - COL11A1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/+ 1 6i c.874-24A>G r.(=) p.(=) - pathogenic g.103488576T>C g.103023020T>C - - COL11A1_000252 - MORL Deafness Variation Database, PubMed: Richards 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.894A>T r.(?) p.(Ile298=) - likely benign g.103488532T>A g.103022976T>A COL11A1(NM_080629.2):c.1047A>T (p.I349=) - COL11A1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.904G>C r.(?) p.(Glu302Gln) - benign, likely benign g.103488522C>G g.103022966C>G COL11A1(NM_001190709.1):c.904G>C (p.(Glu302Gln)), COL11A1(NM_080629.2):c.1057G>C (p.E353Q) - COL11A1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.922G>A r.(?) p.(Asp308Asn) - VUS g.103488504C>T g.103022948C>T COL11A1(NM_001190709.1):c.922G>A (p.(Asp308Asn)) - COL11A1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.981C>T r.(?) p.(Asp327=) - likely benign g.103488445G>A g.103022889G>A COL11A1(NM_080629.2):c.1134C>T (p.D378=) - COL11A1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.989A>T r.(?) p.(Asp330Val) - likely benign g.103488437T>A g.103022881T>A - - COL11A1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +?/. 2 7 c.1074del r.(?) p.(Asn359Metfs*19), p.(Asn359MetfsTer19) - likely pathogenic, pathogenic g.103488352del g.103022796del COL11A1(NM_080629.2):c.1227delT (p.N410Mfs*19) - COL11A1_000074 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Alzahrani 2012 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam
?/. 2 - c.1084T>A r.(?) p.(Phe362Ile) - VUS g.103488342A>T g.103022786A>T COL11A1(NM_080629.2):c.1237T>A (p.F413I) - COL11A1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1084T>C r.(?) p.(Phe362Leu) - likely benign g.103488342A>G g.103022786A>G COL11A1(NM_080629.2):c.1237T>C (p.F413L) - COL11A1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1129-9A>C r.(=) p.(=) - likely benign g.103487334T>G g.103021778T>G COL11A1(NM_080629.2):c.1282-9A>C - COL11A1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1129-8T>C r.(=) p.(=) - benign g.103487333A>G g.103021777A>G COL11A1(NM_080629.2):c.1282-8T>C - COL11A1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1191+19A>G r.(=) p.(=) - benign g.103487244T>C g.103021688T>C COL11A1(NM_080629.2):c.1344+19A>G - COL11A1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.1291G>C r.(?) p.(Asp431His) - likely benign g.103483381C>G g.103017825C>G COL11A1(NM_080629.2):c.1444G>C (p.D482H) - COL11A1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1296+18A>T r.(=) p.(=) - benign g.103483358T>A g.103017802T>A COL11A1(NM_080629.2):c.1449+18A>T - COL11A1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/. 1 - c.1297-17T>C r.(=) p.(=) - benign g.103481315A>G g.103015759A>G COL11A1(NM_080629.2):c.1450-17T>C - COL11A1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 11 c.1304dup r.(?) p.(Gly436Argfs*9) - pathogenic g.103481296dup g.103015740dup - - COL11A1_000251 - MORL Deafness Variation Database, PubMed: Richards 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
./., ?/. 2 - c.1309C>T r.(?) p.(Arg437Cys) - likely pathogenic, VUS g.103481286G>A g.103015730G>A COL11A1(NM_080629.2):c.1462C>T (p.R488C), NM_080629.2(COL11A1):c.1462C>T p.(Arg488Cys) - COL11A1_000007 variant could not be associated with disease phenotype, VKGL data sharing initiative Nederland PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - CLASSIFICATION record, Germline - - - - - Marjolijn JL Ligtenberg, VKGL-NL_Rotterdam
-?/. 1 - c.1332T>C r.(?) p.(Asp444=) - likely benign g.103481263A>G g.103015707A>G COL11A1(NM_080629.2):c.1485T>C (p.D495=) - COL11A1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1372-1G>T r.spl? p.? - likely pathogenic g.103480151C>A - - - COL11A1_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 13 c.1486G>T r.(?) p.(Gly496Cys) - pathogenic g.103477995C>A g.103012439C>A - - COL11A1_000250 - MORL Deafness Variation Database, PubMed: Acke 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.1492A>C r.(?) p.(Thr498Pro) - VUS g.103477989T>G g.103012433T>G COL11A1(NM_001190709.1):c.1492A>C (p.(Thr498Pro)) - COL11A1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+, +/., +?/. 4 13i c.1513-2del r.spl, r.spl? p.? - likely pathogenic, pathogenic, pathogenic (dominant) g.103474074del g.103008518del 1666-2delA - COL11A1_000006 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Martin 1999, PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017, 1 more item - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Mieke Wesdorp, VKGL-NL_Nijmegen
?/. 1 - c.1513G>T r.(?) p.(Gly505Trp) - VUS g.103474072C>A g.103008516C>A - - COL11A1_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1516G>T r.(?) p.(Gly506Trp) - VUS g.103474069C>A g.103008513C>A - - COL11A1_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 14 c.1564C>T r.(?) p.(Gln522*) - pathogenic g.103474021G>A g.103008465G>A - - COL11A1_000249 - MORL Deafness Variation Database, PubMed: Acke 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 14i c.1566+3A>C r.spl? p.? - pathogenic g.103474016T>G g.103008460T>G - - COL11A1_000248 - MORL Deafness Variation Database, PubMed: Richards 2010, PubMed: Xiong 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 15 c.1577G>T r.(?) p.(Gly526Val) - pathogenic g.103471861C>A g.103006305C>A - - COL11A1_000247 - MORL Deafness Variation Database, PubMed: Richards 2010 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.1601C>T r.(?) p.(Thr534Met) - likely benign g.103471837G>A g.103006281G>A COL11A1(NM_080629.2):c.1754C>T (p.T585M) - COL11A1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1614A>T r.(?) p.(Gly538=) - VUS g.103471824T>A g.103006268T>A - - COL11A1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/? 1 - c.1620-2del r.(?) p.? - likely pathogenic g.103471820del g.103006264del - - COL11A1_000001 1 more item - - - Unknown ? - - - - Marcel Nelen
+/. 1 - c.1620+1G>T r.spl p.? - pathogenic (dominant) g.103471817C>A - 1773+1G>T - COL11A1_000277 - PubMed: Zhou 2018 - - Germline - - - - - -
+/+ 1 16 c.1669dup r.(?) p.(Ala557Glyfs*8) - pathogenic g.103471632dup g.103006076dup - - COL11A1_000246 - MORL Deafness Variation Database, PubMed: Tompson 2010 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/. 1 - c.1670_1671del r.(?) p.(Ala557GlufsTer7) - pathogenic g.103471627_103471628del g.103006071_103006072del - - COL11A1_000290 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - -
+?/+? 1 16 c.1674G>A r.(=) p.(=) - likely pathogenic g.103471624C>T g.103006068C>T - - COL11A1_000245 - MORL Deafness Variation Database, PubMed: Acke 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. 2 - c.1675-15_1675-10del r.(=) p.(=) - benign g.103471483_103471488del g.103005927_103005932del COL11A1(NM_080629.2):c.1828-15_1828-10delATGATG - COL11A1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.1675-15_1675-10dup r.(=) p.(=) - benign g.103471483_103471488dup g.103005927_103005932dup COL11A1(NM_080629.2):c.1828-18_1828-13dupATGATG - COL11A1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 3 - c.1675-12_1675-10del r.(=) p.(=) - benign g.103471486_103471488del g.103005930_103005932del COL11A1(NM_080629.2):c.1828-12_1828-10delATG - COL11A1_000064, COL11A1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-/., -?/. 3 - c.1675-12_1675-10dup r.(=) p.(=) - benign, likely benign g.103471486_103471488dup g.103005930_103005932dup COL11A1(NM_080629.2):c.1828-12_1828-10dupATG - COL11A1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 - c.1681C>T r.(?) p.(Arg561Ter) - pathogenic g.103471441G>A g.103005885G>A - - COL11A1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1699C>A r.(?) p.(Pro567Thr) - VUS g.103471423G>T g.103005867G>T - - COL11A1_000284 - PubMed: Huang 2017 - - Unknown - - - - - -
?/. 1 - c.1700C>T r.(?) p.(Pro567Leu) - VUS g.103471422G>A g.103005866G>A COL11A1(NM_080629.2):c.1853C>T (p.P618L) - COL11A1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1719_1745delinsT r.? p.? ACMG likely pathogenic (dominant) g.103470201_103471403delinsA - - - COL11A1_000272 ACMG: PVS1, PM2 class 4 - - - Germline ? - - - - Andreas Laner
+/+ 1 17i c.1728+5G>A r.spl? p.? - pathogenic g.103471389C>T g.103005833C>T - - COL11A1_000244 - MORL Deafness Variation Database, PubMed: Richards 2010, PubMed: Xiong 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.1728+5G>C r.spl? p.? - VUS g.103471389C>G g.103005833C>G - - COL11A1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.1755A>G r.(?) p.(Pro585=) - benign g.103470191T>C g.103004635T>C COL11A1(NM_080629.2):c.1908A>G (p.P636=) - COL11A1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/+ 1 18 c.1757G>T r.(?) p.(Gly586Val) - pathogenic g.103470189C>A g.103004633C>A - - COL11A1_000243 - MORL Deafness Variation Database, PubMed: Robin 1993, PubMed: Richards 1996, PubMed: Xiong 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.1782+3A>G r.spl? p.? - likely benign g.103470161T>C g.103004605T>C COL11A1(NM_080629.2):c.1935+3A>G - COL11A1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1783-2A>G r.spl? p.? - pathogenic g.103470046T>C g.103004490T>C - - COL11A1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 18i c.1783-1G>A r.spl? p.? - pathogenic g.103470045C>T g.103004489C>T - - COL11A1_000242 - MORL Deafness Variation Database, PubMed: Richards 2010, PubMed: Xiong 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. 3 - c.1827+11T>C r.(=) p.(=) - benign g.103469989A>G g.103004433A>G COL11A1(NM_080629.2):c.1980+11T>C - COL11A1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 - c.1828-1G>C r.spl? p.? - likely pathogenic (dominant) g.103468825C>G g.103003269C>G NM_001854.3:c.1945-1G>C - COL11A1_000281 - PubMed: Maddirevula 2018 - - De novo - - - - - -
+/. 1 - c.1837G>T r.(?) p.(Gly613Cys) - pathogenic g.103468815C>A g.103003259C>A - - COL11A1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 20 c.1856G>T r.(?) p.(Gly619Val) - pathogenic g.103468796C>A g.103003240C>A - - COL11A1_000241 - MORL Deafness Variation Database, PubMed: Acke 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. 2 - c.1881+4T>A r.spl? p.? - benign g.103468767A>T g.103003211A>T COL11A1(NM_080629.2):c.2034+4T>A - COL11A1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.1881+15A>C r.(=) p.(=) - likely benign g.103468756T>G g.103003200T>G - - COL11A1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1882-9T>C r.(=) p.(=) - likely benign g.103468356A>G g.103002800A>G COL11A1(NM_080629.2):c.2035-9T>C - COL11A1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1893T>G r.(?) p.(Gly631=) - benign g.103468336A>C g.103002780A>C COL11A1(NM_080629.2):c.2046T>G (p.G682=) - COL11A1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1897G>A r.(?) p.(Asp633Asn) - VUS g.103468332C>T g.103002776C>T COL11A1(NM_080629.2):c.2050G>A (p.D684N) - COL11A1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1903C>T r.(?) p.(Pro635Ser) - VUS g.103468326G>A g.103002770G>A COL11A1(NM_080629.2):c.2056C>T (p.P686S) - COL11A1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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