Full data view for gene ILDR1

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

52 entries on 1 page. Showing entries 1 - 52.
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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     
+/+ 1 c.3G>A r.(?) p.(Met1?) Parent #1 - pathogenic g.121740922C>T g.122022075C>T - - ILDR1_000035 - MORL Deafness Variation Database, PubMed: Borck 2011, PubMed: Aslam 2005 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Borck 2011, PubMed: Aslam 2005 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.3G>A r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.121740922C>T g.122022075C>T Met1Ile - ILDR1_000035 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1651 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/+ 1i_2 c.59-5_88del r.spl? p.? Parent #1 - pathogenic g.121725981_121726015del g.122007134_122007168del - - ILDR1_000033 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 2 c.73C>G r.(?) p.(Leu25Val) Parent #1 - VUS g.121725994G>C g.122007147G>C - - ILDR1_000034 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.206C>A r.(?) p.(Pro69His) Parent #1 - pathogenic g.121725861G>T g.122007014G>T - - ILDR1_000032 - MORL Deafness Variation Database, PubMed: Kim 2015, PubMed: Kim 2015 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Kim 2015, PubMed: Kim 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.290G>A r.(?) p.(Arg97Gln) Parent #1 - pathogenic g.121724180C>T g.122005333C>T - - ILDR1_000031 - MORL Deafness Variation Database, PubMed: Borck 2011, PubMed: Kim 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Borck 2011, PubMed: Kim 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.305T>A r.(?) p.(Val102Glu) Parent #1 - pathogenic g.121724165A>T g.122005318A>T - - ILDR1_000030 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.325_333dup r.(?) p.(Asn109_Pro111dup) Parent #1 - pathogenic g.121724137_121724145dup g.122005290_122005298dup - - ILDR1_000029 - MORL Deafness Variation Database, PubMed: Ramzan 2014 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Ramzan 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3i c.379+1G>A r.spl? p.? Parent #1 - pathogenic g.121724090C>T g.122005243C>T - - ILDR1_000028 - MORL Deafness Variation Database, PubMed: Babanejad 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Babanejad 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.411del r.(?) p.(Trp137Cysfs*25) Parent #1 - pathogenic g.121720681del g.122001834del - - ILDR1_000027 - MORL Deafness Variation Database, PubMed: Borck 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Borck 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 4 c.451G>A r.(?) p.(Gly151Arg) Parent #1 - VUS g.121720640C>T g.122001793C>T - - ILDR1_000026 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.451G>A r.(?) p.(Gly151Arg) Unknown - VUS g.121720640C>T - - - ILDR1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.461C>T r.(?) p.(Ser154Leu) Unknown - VUS g.121720630G>A g.122001783G>A ILDR1(NM_001199799.1):c.461C>T (p.S154L) - ILDR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.461C>T r.(?) p.(Ser154Leu) Parent #1 - VUS g.121720630G>A g.122001783G>A - - ILDR1_000004 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.471C>T r.(?) p.(Pro157=) Unknown - likely benign g.121720620G>A g.122001773G>A ILDR1(NM_001199799.1):c.471C>T (p.P157=) - ILDR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.483A>T r.(=) p.(=) Parent #1 - likely benign g.121720608T>A g.122001761T>A - - ILDR1_000025 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 4 c.486G>T r.(?) p.(Lys162Asn) Parent #1 - VUS g.121720605C>A g.122001758C>A - - ILDR1_000024 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.493G>T r.(?) p.(Val165Phe) Unknown - VUS g.121720598C>A - - - ILDR1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4i c.499+1G>A r.spl? p.? Parent #1 - pathogenic g.121720591C>T g.122001744C>T - - ILDR1_000023 - MORL Deafness Variation Database, PubMed: Borck 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Borck 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.583C>T r.(?) p.(Gln195*) Parent #1 - pathogenic g.121720218G>A g.122001371G>A - - ILDR1_000022 - MORL Deafness Variation Database, PubMed: Borck 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Borck 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.604C>T r.(?) p.(Arg202Cys) Unknown - VUS g.121720197G>A g.122001350G>A ILDR1(NM_001199799.1):c.604C>T (p.R202C) - ILDR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647-249G>A r.(=) p.(=) Unknown - likely benign g.121713066C>T - ILDR1(NM_001199799.1):c.741G>A (p.Q247=) - ILDR1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 5i c.647-228C>T r.(=) p.(=) Parent #1 - likely benign g.121713045G>A g.121994198G>A - - ILDR1_000021 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.647-226C>T r.(=) p.(=) Parent #1 - benign g.121713043G>A g.121994196G>A - - ILDR1_000036 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144519399 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.647-226C>T r.(=) p.(=) Unknown - likely benign g.121713043G>A - ILDR1(NM_001199799.1):c.764C>T (p.P255L) - ILDR1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.647-215C>T r.(=) p.(=) Unknown - pathogenic g.121713032G>A g.121994185G>A ILDR1(NM_001199799.1):c.775C>T (p.R259*) - ILDR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.651G>A r.(?) p.(Leu217=) Unknown - likely benign g.121712813C>T - ILDR1(NM_001199799.1):c.783G>A (p.L261=) - ILDR1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.659C>G r.(?) p.(Pro220Arg) Unknown - benign g.121712805G>C g.121993958G>C - - ILDR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.671C>T r.(?) p.(Pro224Leu) Unknown - VUS g.121712793G>A - ILDR1(NM_001199799.1):c.803C>T (p.P268L) - ILDR1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.688C>T r.(?) p.(Gln230*) Parent #1 - pathogenic g.121712776G>A g.121993929G>A - - ILDR1_000020 - MORL Deafness Variation Database, PubMed: Diaz-Horta 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Diaz-Horta 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.734T>G r.(?) p.(Leu245Trp) Unknown - VUS g.121712730A>C g.121993883A>C - - ILDR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.900del r.(?) p.(Thr301Profs*20) Parent #1 - pathogenic g.121712565del g.121993718del - - ILDR1_000019 - MORL Deafness Variation Database, PubMed: Borck 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Borck 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.900del r.(?) p.(Thr301ProfsTer20) Both (homozygous) ACMG pathogenic (recessive) g.121712565del g.121993718del 900delG - ILDR1_000019 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4175 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/+ 6 c.1003G>T r.(?) p.(Glu335*) Parent #1 - pathogenic g.121712461C>A g.121993614C>A - - ILDR1_000018 - MORL Deafness Variation Database, PubMed: Borck 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Borck 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1005del r.(?) p.(Glu335AspfsTer30) Both (homozygous) ACMG pathogenic (recessive) g.121712459del g.121993612del 1005_1005delG - ILDR1_000046 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1455 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.1027T>C r.(?) p.(Ser343Pro) Unknown - likely benign g.121712437A>G g.121993590A>G ILDR1(NM_001199799.1):c.1159T>C (p.S387P) - ILDR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1027T>C r.(?) p.(Ser343Pro) Paternal (confirmed) - benign g.121712437A>G g.121993590A>G 1159T>C (S387P) - ILDR1_000008 - PubMed: Gariballa 2017 - rs150250182 Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ODCD - PubMed: Gariballa 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes United Arab Emirates - - - - - 1 Johan den Dunnen
-?/-? 6 c.1027T>C r.(?) p.(Ser343Pro) Parent #1 - likely benign g.121712437A>G g.121993590A>G - - ILDR1_000008 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1029_1030del r.(?) p.(Trp344GlyfsTer17) Both (homozygous) ACMG pathogenic (recessive) g.121712434_121712435del g.121993587_121993588del 1029_1030delTT - ILDR1_000045 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4353 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.1033G>A r.(?) p.(Ala345Thr) Unknown - VUS g.121712431C>T - ILDR1(NM_001199799.1):c.1165G>A (p.A389T) - ILDR1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.1048del r.(?) p.(Glu350Serfs*15) Parent #1 - pathogenic g.121712418del g.121993571del - - ILDR1_000017 - MORL Deafness Variation Database, PubMed: Borck 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Borck 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1052T>C r.(?) p.(Leu351Ser) Unknown - VUS g.121712412A>G g.121993565A>G ILDR1(NM_001199799.1):c.1184T>C (p.L395S) - ILDR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.1226G>A r.(?) p.(Arg409Gln) Parent #1 - pathogenic g.121712238C>T g.121993391C>T - - ILDR1_000016 - MORL Deafness Variation Database, PubMed: Borck 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Borck 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 6 c.1228G>A r.(?) p.(Glu410Lys) Parent #1 - VUS g.121712236C>T g.121993389C>T - - ILDR1_000015 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1252C>T r.(?) p.(Arg418*) Unknown - pathogenic g.121712212G>A - - - ILDR1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.1255C>T r.(?) p.(Arg419Cys) Parent #1 - likely pathogenic g.121712209G>A g.121993362G>A - - ILDR1_000014 - MORL Deafness Variation Database, PubMed: Borck 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Borck 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1265G>A r.(?) p.(Arg422His) Unknown - VUS g.121712199C>T - ILDR1(NM_001199799.1):c.1397G>A (p.R466H) - ILDR1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1301C>T r.(?) p.(Ser434Phe) Parent #1 - VUS g.121712163G>A g.121993316G>A - - ILDR1_000013 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1384C>T r.(?) p.(Arg462Ter) Both (homozygous) ACMG pathogenic (recessive) g.121712212G>A g.121993365G>A - - ILDR1_000043 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1428 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
-/. - c.1413T>G r.(?) p.(Leu471=) Unknown - benign g.121712051A>C g.121993204A>C - - ILDR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1450A>G r.(?) p.(Ser484Gly) Parent #1 - VUS g.121712014T>C g.121993167T>C - - ILDR1_000012 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 6i c.1468-13T>C r.(=) p.(=) Parent #1 - likely benign g.121707268A>G g.121988421A>G - - ILDR1_000011 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
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