All variants in the COL11A1 gene

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

381 entries on 4 pages. Showing entries 1 - 100.
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Effect     

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     
?/. - c.? r.? p.? - VUS g.? - 1944+11T>C - NPHS2_000000 - PubMed: Maranha 2015, Journal: Maranhao 2015 - rs71664954 Germline - - - 0 - LOVD
?/. - c.? r.? p.? - VUS g.? - c.2762A>G (Q921R) - NPHS2_000000 1/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - 0 - LOVD
?/. - c.? r.spl p.? - VUS g.? - c.2098-6A>C - NPHS2_000000 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - 0 - LOVD
?/. - c.? r.? p.? - VUS g.? - c.4822A>G (K1608E) - NPHS2_000000 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - 0 - LOVD
-?/. - 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
?/. - c.97G>A r.(?) p.(Val33Ile) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.97G>A r.(?) p.(Val33Ile) - likely benign 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - c.97G>A r.(?) p.(Val33Ile) - likely benign 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
-/. - 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_AMC
-/. - 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
-/. - c.138T>G r.(?) p.(Asp46Glu) - benign g.103548497A>C g.103082941A>C COL11A1(NM_080629.2):c.138T>G (p.D46E) - COL11A1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.138T>G r.(?) p.(Asp46Glu) - benign g.103548497A>C g.103082941A>C COL11A1(NM_080629.2):c.138T>G (p.D46E) - COL11A1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.138T>G r.(?) p.(Asp46Glu) - benign g.103548497A>C g.103082941A>C - - COL11A1_000100 123 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11164663 Germline - 123/2789 individuals - 0 - Mohammed Faruq
-/. - c.138T>G r.(?) p.(Asp46Glu) - benign g.103548497A>C g.103082941A>C - - COL11A1_000100 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11164663 Germline - 3/2789 individuals - 0 - Mohammed Faruq
?/? 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 - - - 0 - Global Variome, with Curator vacancy
?/. - 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
+/. - 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
-/. - 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
-/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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_AMC
-?/. - 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
?/. - c.328G>C r.(?) p.(Gly110Arg) - 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 - - - 0 - VKGL-NL_AMC
-?/. - c.328G>C r.(?) p.(Gly110Arg) - likely benign 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.328G>C r.(?) p.(Gly110Arg) - likely benign g.103544374C>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
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+?/. - c.484G>A r.(?) p.(Gly162Arg) - likely 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 - - - 0 - VKGL-NL_Rotterdam
+/. - c.484G>A r.(?) p.(Gly162Arg) - 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_Nijmegen
-?/. - 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
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.560C>T r.(?) p.(Thr187Met) - VUS g.103540265G>A g.103074709G>A COL11A1(NM_001190709.1):c.560C>T (p.(Thr187Met)) - COL11A1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 4 c.560C>T r.(?) p.(Thr187Met) - pathogenic g.103540265G>A g.103074709G>A - - COL11A1_000176 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
-?/. - 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
-/. - 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
-?/. - c.652-14_652-13insGTTT r.(=) p.(=) - likely benign g.103496816_103496817insCAAA g.103031260_103031261insCAAA - - COL11A1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - 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
-?/. - 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
-/. - c.652-8_652-6dup r.(=) p.(=) - benign g.103496816_103496818dup g.103031260_103031262dup COL11A1(NM_001190709.1):c.652-7_652-6insTTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(NM_080629.2):c.652-9_652-7dupTTT - COL11A1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.652-8_652-6dup r.(=) p.(=) - benign g.103496816_103496818dup g.103031260_103031262dup COL11A1(NM_001190709.1):c.652-7_652-6insTTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(NM_080629.2):c.652-9_652-7dupTTT - COL11A1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.652-8_652-6dup r.(=) p.(=) - likely benign g.103496816_103496818dup g.103031260_103031262dup COL11A1(NM_001190709.1):c.652-7_652-6insTTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(NM_080629.2):c.652-9_652-7dupTTT - COL11A1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.652-8_652-6dup r.(=) p.(=) - likely benign g.103496816_103496818dup g.103031260_103031262dup COL11A1(NM_001190709.1):c.652-7_652-6insTTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(NM_080629.2):c.652-9_652-7dupTTT - COL11A1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - 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
-/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.652-7_652-6dup r.(=) p.(=) - benign g.103496817_103496818dup g.103031261_103031262dup COL11A1(NM_001190709.1):c.652-6[3]T (p.(=)), COL11A1(NM_080629.2):c.652-7_652-6dupTT, COL11A1(NM_080629.2):c.652-8_652-7dupTT - COL11A1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.652-7_652-6dup r.(=) p.(=) - benign g.103496817_103496818dup g.103031261_103031262dup COL11A1(NM_001190709.1):c.652-6[3]T (p.(=)), COL11A1(NM_080629.2):c.652-7_652-6dupTT, COL11A1(NM_080629.2):c.652-8_652-7dupTT - COL11A1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.652-7_652-6dup r.(=) p.(=) - likely benign g.103496817_103496818dup g.103031261_103031262dup COL11A1(NM_001190709.1):c.652-6[3]T (p.(=)), COL11A1(NM_080629.2):c.652-7_652-6dupTT, COL11A1(NM_080629.2):c.652-8_652-7dupTT - COL11A1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.652-6del r.(=) p.(=) - benign g.103496818del g.103031262del COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT - COL11A1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.652-6del r.(=) p.(=) - benign g.103496818del g.103031262del COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT - COL11A1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.652-6del r.(=) p.(=) - benign g.103496818del g.103031262del COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT - COL11A1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.652-6del r.(=) p.(=) - benign g.103496818del g.103031262del COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT - COL11A1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.652-6del r.(=) p.(=) - benign g.103496818del g.103031262del COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT - COL11A1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.652-6del r.(=) p.(=) - likely benign g.103496818del g.103031262del COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT - COL11A1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.652-6dup r.(=) p.(=) - 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 - - - 0 - VKGL-NL_AMC
-/. - c.652-6dup r.(=) p.(=) - 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 - - - 0 - VKGL-NL_VUmc
-?/. - c.652-6dup r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.652-6dup r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.652-6dup r.(=) p.(=) - 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
-/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - 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
-?/. - c.698A>G r.(?) p.(Tyr233Cys) - likely benign g.103496754T>C g.103031198T>C - - COL11A1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - 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
-/. - 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 - - - 0 - VKGL-NL_Groningen
+/+ 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 - - - 0 - Global Variome, with Curator vacancy
-?/. - 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
?/? 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 - - - 0 - Global Variome, with Curator vacancy
-/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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 - - - 0 - VKGL-NL_VUmc
?/. - c.838del r.(?) p.(Thr280GlnfsTer25) - VUS g.103491112del g.103025556del - - COL11A1_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.873+8G>A r.(=) p.(=) - 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
-/. - c.873+8G>A r.(=) p.(=) - 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_VUmc
+/+ 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 - - - 0 - Global Variome, with Curator vacancy
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.904G>C r.(?) p.(Glu302Gln) - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.904G>C r.(?) p.(Glu302Gln) - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - c.904G>C r.(?) p.(Glu302Gln) - 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
-?/. - c.904G>C r.(?) p.(Glu302Gln) - 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_VUmc
?/. - 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 - - - 0 - VKGL-NL_Leiden
-?/. - 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
-?/. - c.989A>T r.(?) p.(Asp330Val) - likely benign g.103488437T>A g.103022881T>A - - COL11A1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1074del r.(?) p.(Asn359MetfsTer19) - likely pathogenic g.103488352del g.103022796del COL11A1(NM_080629.2):c.1227delT (p.N410Mfs*19) - COL11A1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 7 c.1074del r.(?) p.(Asn359Metfs*19) - pathogenic g.103488352del g.103022796del - - COL11A1_000074 - MORL Deafness Variation Database, PubMed: Alzahrani 2012 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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_AMC
-?/. - 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 - - - 0 - VKGL-NL_AMC
-?/. - 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
-/. - 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 - - - 0 - VKGL-NL_AMC
-/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - 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 - - - 0 - VKGL-NL_AMC
-/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - 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 - - - 0 - VKGL-NL_Nijmegen
-/. - 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
+/+ 11 c.1304dup r.(?) p.(Gly436Argfs*9) - pathogenic g.103481296dup g.103015740dup - - COL11A1_000251 - MORL Deafness Variation Database, PubMed: Richards 2013 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
./. - c.1309C>T r.(?) p.(Arg437Cys) - likely pathogenic g.103481286G>A g.103015730G>A NM_080629.2(COL11A1):c.1462C>T p.(Arg488Cys) - COL11A1_000007 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
?/. - c.1309C>T r.(?) p.(Arg437Cys) - VUS g.103481286G>A - COL11A1(NM_080629.2):c.1462C>T (p.R488C) - COL11A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
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