Full data view for gene EYA1

Information The variants shown are described using the NM_000503.4 transcript reference sequence.

289 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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_18_ c.(?_-640)_(*1907_?)del r.827_966del p.Tyr277SerfsTer8 Parent #1 - pathogenic (dominant) g.(?_72109668)_(72274467_?)del g.(?_71197433)_(71362232_?)del c.(?_-147)_(*1907_?)del (entie gene) - EYA1_000216 - PubMed: Stockley 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - BOR Pat3 PubMed: Stockley 2009 patient - - Canada - - - - - 1 Johan den Dunnen
-?/. - c.-5+4A>C r.spl? p.? Unknown - likely benign g.72268693T>G - EYA1(NM_000503.6):c.-5+4A>C - EYA1_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_18_ c.-640_*1907{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_72109668)_(72274467_?)del g.(?_71197433)_(71362232_?)del del ex1-18 - EYA1_000216 - PubMed: Razmara 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - HL YK1132 PubMed: Razmara 2018 2-generation family, 2 affected, unaffected heterozygous carrier parents M - Iran - - - - - 1 Ehsan Razmara
?/. - c.35G>A r.(?) p.(Arg12His) Unknown - VUS g.72267106C>T - EYA1(NM_000503.6):c.35G>A (p.R12H) - MUTYH_000595 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.58C>G r.(?) p.(Pro20Ala) Unknown - benign g.72267083G>C g.71354848G>C EYA1(NM_000503.5):c.58C>G (p.P20A) - EYA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.65G>A r.(?) p.(Gly22Asp) Parent #1 - VUS g.72267076C>T g.71354841C>T - - EYA1_000212 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? - c.107C>T r.(?) p.(Pro36Leu) Parent #1 - VUS g.72267034G>A g.71354799G>A - - EYA1_000211 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. 3 c.107C>T r.(?) p.(Thr36Ile) Parent #1 ACMG likely benign g.72267034G>A g.71354799G>A - - EYA1_000211 ACMG BS2, BP6, PP2 PubMed: Estandia-Ortega 2022 VCV000163440.7 rs727503048 Germline/De novo (untested) ? 1/49 patients TfiI+,MlyI-, PleI- - - DNA SEQ-NG-I gDNA from peripheral blood gene-panel sequencing OAS EFAV_144 PubMed: Estandia-Ortega 2022 1 patient M no Mexico - - - - none 1 Miriam Erandi Reyna-Fabián
?/. - c.124+1G>A r.spl? p.? Unknown - VUS g.72267016C>T - - - EYA1_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(?) p.(Ser49=) Unknown - likely benign g.72246387G>A - EYA1(NM_000503.5):c.147C>T (p.S49=) - EYA1_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158C>T r.(?) p.(Ala53Val) Unknown - VUS g.72246376G>A g.71334141G>A EYA1(NM_000503.5):c.158C>T (p.A53V) - EYA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.164C>T r.(?) p.(Thr55Met) Parent #1 - pathogenic g.72246370G>A g.71334135G>A - - EYA1_000209 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.164C>T r.(?) p.(Thr55Met) Parent #1 - VUS g.72246370G>A g.71334135G>A - - EYA1_000209 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201434219 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.164C>T r.(?) p.(Thr55Met) Unknown - VUS g.72246370G>A - EYA1(NM_000503.5):c.164C>T (p.T55M) - EYA1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197G>T r.(?) p.(Gly66Val) Unknown - likely benign g.72246337C>A - EYA1(NM_000503.4):c.197G>T (p.(Gly66Val)) - EYA1_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197G>T r.(?) p.(Gly66Val) Unknown - VUS g.72246337C>A - EYA1(NM_000503.4):c.197G>T (p.(Gly66Val)) - EYA1_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.229C>T r.(?) p.(Arg77*) Maternal (confirmed) - likely pathogenic g.72234477G>A - - - EYA1_000215 - - - - Germline - - - - - DNA SEQ-NG - - BOS1 133 - - F - China - - - - - 1 Sha Hong
+/. - c.256C>T r.(?) p.(Gln86Ter) Unknown - pathogenic g.72234450G>A g.71322215G>A - - EYA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.283C>T r.(?) p.(Pro95Ser) Parent #1 - pathogenic g.72234104G>A g.71321869G>A - - EYA1_000208 - MORL Deafness Variation Database, PubMed: Krug 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Krug 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? - c.299C>A r.(?) p.(Thr100Asn) Parent #1 - VUS g.72234088G>T g.71321853G>T - - EYA1_000207 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.319G>A r.(?) p.(Ala107Thr) Unknown - likely pathogenic g.72234068C>T g.71321833C>T - - EYA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.321del r.(?) p.(Tyr108Ilefs*11) Parent #1 - pathogenic g.72234066del g.71321831del - - EYA1_000206 - MORL Deafness Variation Database, PubMed: Lee 2009 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Lee 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.321T>C r.(?) p.(Ala107=) Unknown - likely benign g.72234066A>G g.71321831A>G EYA1(NM_000503.5):c.321T>C (p.A107=) - EYA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.337C>T r.(?) p.(Gln113Ter) Unknown - pathogenic g.72234050G>A g.71321815G>A - - EYA1_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.348del r.(?) p.(Tyr117Ilefs*2) Parent #1 - pathogenic g.72234039del g.71321804del - - EYA1_000205 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.361G>A r.(?) p.(Ala121Thr) Unknown - VUS g.72234026C>T g.71321791C>T - - EYA1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.381C>A r.(?) p.(Tyr127Ter) Unknown - pathogenic g.72234006G>T g.71321771G>T - - EYA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.385C>T r.(?) p.(Gln129*) Parent #1 - pathogenic (dominant) g.72234002G>A g.71321767G>A - - EYA1_000245 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
+/+ - c.398_405del r.(?) p.(Pro133HisfsTer14) Parent #1 - pathogenic g.72233984_72233991del g.71321749_71321756del - - EYA1_000203 - MORL Deafness Variation Database, PubMed: Vincent 1997 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Vincent 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.402C>A r.(?) p.(Tyr134*) Parent #1 - pathogenic g.72233985G>T g.71321750G>T - - EYA1_000204 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Krug 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008, PubMed: Krug 2011, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.403G>A r.(?) p.(Gly135Ser) Parent #1 - pathogenic g.72233984C>T g.71321749C>T - - EYA1_000202 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.403G>A r.(?) p.(Gly135Ser) Parent #1 - pathogenic (dominant) g.72233984C>T g.71321749C>T - - EYA1_000202 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
+/+ - c.418G>A r.(?) p.(Gly140Ser) Parent #1 - pathogenic g.72233969C>T g.71321734C>T - - EYA1_000201 - MORL Deafness Variation Database, PubMed: Krug 2011, PubMed: Kim 2014, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Krug 2011, PubMed: Kim 2014, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.425T>A r.(?) p.(Leu142*) Unknown - pathogenic g.72229918A>T - - - EYA1_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.428G>A r.(?) p.(Trp143*) Parent #1 - pathogenic g.72229915C>T g.71317680C>T - - EYA1_000200 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Smith 1993, PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.434G>A r.(?) p.(Gly145Asp) Unknown - VUS g.72229909C>T g.71317674C>T EYA1(NM_000503.4):c.434G>A (p.(Gly145Asp)) - EYA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.450_451del r.(?) p.(Gly151IlefsTer36) Parent #1 - pathogenic g.72229893_72229894del g.71317658_71317659del - - EYA1_000199 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.466C>T r.(?) p.(Gln156*) Maternal (confirmed) - pathogenic (dominant) g.72229877G>A g.71317642G>A - - EYA1_000198 - PubMed: Wang 2012, PubMed: Wu 2019 - - Germline yes - - - - DNA ? - - ? Fam1 PubMed: Wang 2012, PubMed: Wu 2019 2-generation family, 3 affected (F, 2M) F;M - Taiwan - - - - - 3 Global Variome, with Curator vacancy
+/. - c.466C>T r.(?) p.(Gln156*) Paternal (confirmed) - pathogenic (dominant) g.72229877G>A g.71317642G>A - - EYA1_000198 - PubMed: Wang 2012, PubMed: Wu 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - 213-gene panel HL Fam2 PubMed: Wang 2012, PubMed: Wu 2019 2-generation family, 3 affected (2F, M) F;M - Taiwan - - - - - 3 Johan den Dunnen
+/. - c.478C>T r.(?) p.(Gln160*) Unknown - pathogenic g.72229865G>A - - - EYA1_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.489dup r.(?) p.(Leu164SerfsTer24) Parent #1 - pathogenic g.72229856dup g.71317621dup - - EYA1_000197 - MORL Deafness Variation Database, PubMed: Rickard 2000 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Rickard 2000 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.529C>T r.(?) p.(Gln177*) Parent #1 - pathogenic g.72229814G>A g.71317579G>A - - EYA1_000196 - MORL Deafness Variation Database, PubMed: Lee 2007, PubMed: Krug 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Lee 2007, PubMed: Krug 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.532del r.(?) p.(Ala178HisfsTer63) Unknown - pathogenic g.72229812del - - - EYA1_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.553C>T r.(?) p.(Gln185*) Parent #1 - pathogenic g.72229790G>A g.71317555G>A - - EYA1_000195 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.556+8T>A r.(=) p.(=) Unknown - VUS g.72229779A>T g.71317544A>T EYA1(NM_000503.4):c.556+8T>A (p.(=)) - EYA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.556+18G>T r.(=) p.(=) Unknown - benign g.72229769C>A g.71317534C>A - - EYA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.557-2A>G r.spl? p.? Unknown - pathogenic g.72211957T>C g.71299722T>C EYA1(NM_000503.5):c.557-2A>G - EYA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.557-2A>G r.spl? p.? Parent #1 - pathogenic g.72211957T>C g.71299722T>C - - EYA1_000012 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 7i c.557-2A>G r.spl p.? Parent #1 - pathogenic (dominant) g.72211957T>C g.71299722T>C c.458-2A>G - EYA1_000012 - PubMed: Stockley 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - BOR Pat4 PubMed: Stockley 2009 patient - - Canada - - - - - 1 Johan den Dunnen
?/. - c.559A>G r.(?) p.(Ser187Gly) Unknown - VUS g.72211953T>C - EYA1(NM_000503.6):c.559A>G (p.S187G) - EYA1_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.588T>A r.(?) p.(Asp196Glu) Parent #1 - pathogenic g.72211924A>T g.71299689A>T - - EYA1_000193 - MORL Deafness Variation Database, PubMed: Okada 2006, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Okada 2006, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 8 c.588_589del r.(?) p.(Thr197Argfs*3) Unknown - pathogenic (dominant) g.72211928_72211929del g.71299693_71299694del c.489_490delTA - EYA1_000194 - PubMed: Stockley 2009 - - De novo - - - - - DNA SEQ - - BOR Pat5 PubMed: Stockley 2009 patient - - Canada - - - - - 1 Johan den Dunnen
+/+ - c.592G>T r.(?) p.(Asp198Tyr) Parent #1 - pathogenic g.72211920C>A g.71299685C>A - - EYA1_000192 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.599dup r.(?) p.(Asn200LysfsTer10) Parent #1 - pathogenic g.72211914dup g.71299679dup - - EYA1_000191 - MORL Deafness Variation Database, PubMed: Chang 2004 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Chang 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.602C>G r.(?) p.(Ser201*) Parent #1 - pathogenic g.72211910G>C g.71299675G>C - - EYA1_000190 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.605T>C r.(?) p.(Val202Ala) Parent #1 - pathogenic g.72211907A>G g.71299672A>G - - EYA1_000189 - MORL Deafness Variation Database, PubMed: Chang 2004 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Chang 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.619_622del r.(?) p.(Gly207LeufsTer33) Unknown - pathogenic g.72211891_72211894del g.71299656_71299659del - - EYA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.630T>C r.(?) p.(Ser210=) Unknown - likely benign g.72211882A>G - EYA1(NM_000503.5):c.630T>C (p.S210=) - EYA1_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.632C>G r.(?) p.(Ser211*) Parent #1 - pathogenic g.72211880G>C g.71299645G>C - - EYA1_000188 - MORL Deafness Variation Database, PubMed: Uno 2004, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Uno 2004, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.634C>T r.(?) p.(Gln212*) Parent #1 - pathogenic g.72211878G>A g.71299643G>A - - EYA1_000187 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.638A>T r.(?) p.(Gln213Leu) Parent #1 - pathogenic g.72211874T>A g.71299639T>A - - EYA1_000186 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.639G>C r.(?) p.(Gln213His) Parent #1 - pathogenic g.72211873C>G g.71299638C>G - - EYA1_000185 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.639+1G>A r.spl? p.? Parent #1 - pathogenic g.72211872C>T g.71299637C>T - - EYA1_000184 - MORL Deafness Variation Database, PubMed: Estefanía 2006, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Estefanía 2006, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 7i c.639+1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.72211872C>T g.71299637C>T 540+1G>A - EYA1_000184 - PubMed: Stockley 2009 - - Germline yes - - - - DNA SEQ - - BOR Pat6 PubMed: Stockley 2009 family - - Canada - - - - - 1 Johan den Dunnen
+/+ - c.639+1G>C r.spl? p.? Parent #1 - pathogenic g.72211872C>G g.71299637C>G - - EYA1_000183 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.639+2del r.spl? p.? Parent #1 - pathogenic g.72211871del g.71299636del - - EYA1_000182 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.640-15G>A r.spl? p.(=) Parent #1 - pathogenic g.72211483C>T g.71299248C>T - - EYA1_000181 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.640-2A>C r.spl? p.? Unknown - pathogenic g.72211470T>G - EYA1(NM_000503.5):c.640-2A>C - EYA1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.647C>T r.(?) p.(Ser216Phe) Parent #1 - pathogenic g.72211461G>A g.71299226G>A - - EYA1_000180 - MORL Deafness Variation Database, PubMed: Hoskins 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Hoskins 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.648G>A r.(?) p.(Pro216=) Unknown - likely benign g.72211460C>T - EYA1(NM_000503.5):c.648G>A (p.P216=) - EYA1_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.654T>A r.(?) p.(Tyr218Ter) Parent #1 - pathogenic g.72211454A>T g.71299219A>T - - EYA1_000179 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 9 c.654T>A r.(?) p.(Tyr218*) Parent #1 - pathogenic (dominant) g.72211454A>T g.71271753C>T 555T>A - EYA1_000179 - PubMed: Stockley 2009 - - Germline yes - - - - DNA SEQ - - BOR Pat7 PubMed: Stockley 2009 family - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.667C>T r.(?) p.(Gln223*) Unknown - likely pathogenic g.72211441G>A - - - EYA1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.671G>T r.(?) p.(Gly224Val) Parent #1 - pathogenic g.72211437C>A g.71299202C>A - - EYA1_000178 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.671G>T r.(?) p.(Gly224Val) Parent #1 - VUS g.72211437C>A g.71299202C>A - - EYA1_000178 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201509408 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/+ - c.678C>G r.(?) p.(Tyr226*) Parent #1 - pathogenic g.72211430G>C g.71299195G>C - - EYA1_000177 - MORL Deafness Variation Database, PubMed: Usami 1999, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Usami 1999, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.701C>T r.(?) p.(Pro234Leu) Unknown - VUS g.72211407G>A - EYA1(NM_000503.6):c.701C>T (p.P234L) - EYA1_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.701C>T r.(?) p.(Pro234Leu) Unknown - VUS g.72211407G>A - EYA1(NM_000503.6):c.701C>T (p.P234L) - EYA1_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.715dup r.(?) p.(Tyr239LeufsTer50) Parent #1 - pathogenic g.72211394dup g.71299159dup - - EYA1_000176 - MORL Deafness Variation Database, PubMed: Krug 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Krug 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.724A>G r.(?) p.(Ser242Gly) Parent #1 - pathogenic g.72211384T>C g.71299149T>C - - EYA1_000175 - MORL Deafness Variation Database, PubMed: Yashima 2003 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Yashima 2003 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.744G>A r.(?) p.(Thr248=) Unknown - benign g.72211364C>T g.71299129C>T EYA1(NM_000503.5):c.744G>A (p.T248=) - EYA1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744G>A r.(?) p.(Thr248=) Unknown - likely benign g.72211364C>T - EYA1(NM_000503.5):c.744G>A (p.T248=) - EYA1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.768C>A r.(?) p.(Asp256Glu) Parent #1 - pathogenic g.72211340G>T g.71299105G>T - - EYA1_000173 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.769del r.(?) p.(Gln257SerfsTer109) Parent #1 - pathogenic g.72211340del g.71299105del - - EYA1_000174 - MORL Deafness Variation Database, PubMed: Krug 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Krug 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.771G>A r.(?) p.(Gln257=) Unknown - likely benign g.72211337C>T g.71299102C>T EYA1(NM_000503.5):c.771G>A (p.Q257=) - EYA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.777dup r.(?) p.(Glu260ArgfsTer29) Parent #1 - pathogenic g.72211332dup g.71299097dup - - EYA1_000172 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.782C>T r.(?) p.(Pro261Leu) Unknown - likely benign g.72211326G>A g.71299091G>A EYA1(NM_000503.5):c.782C>T (p.P261L) - EYA1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.782C>T r.(?) p.(Pro261Leu) Parent #1 - likely benign g.72211326G>A g.71299091G>A - - EYA1_000051 23 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77825059 Germline - 23/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 23 Mohammed Faruq
-?/. - c.782C>T r.(?) p.(Pro261Leu) Both (homozygous) - likely benign g.72211326G>A g.71299091G>A - - EYA1_000051 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77825059 Germline - 2/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.783G>A r.(?) p.(Pro261=) Unknown - likely benign g.72211325C>T - EYA1(NM_000503.5):c.783G>A (p.P261=) - EYA1_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.805G>A r.(?) p.(Ala269Thr) Unknown - likely benign g.72211303C>T - - - EYA1_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.806del r.(?) p.(Ser269Phefs*9) Parent #1 - pathogenic g.72211302del g.71299067del - - EYA1_000171 - MORL Deafness Variation Database, PubMed: Chang 2004 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Chang 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.813A>G r.(?) p.(Thr271=) Unknown - benign g.72211295T>C g.71299060T>C - - EYA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.821del r.(?) p.(Gly274Aspfs*4) Parent #1 - pathogenic g.72211287del g.71299052del - - EYA1_000170 - MORL Deafness Variation Database, PubMed: Krug 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Krug 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.826G>T r.(?) p.(Asp276Tyr) Parent #1 - pathogenic g.72211282C>A g.71299047C>A - - EYA1_000169 - MORL Deafness Variation Database, PubMed: Clarke 2006, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Clarke 2006, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.831C>A r.(?) p.(Tyr277*) Parent #1 - pathogenic g.72184128G>T g.71271893G>T - - EYA1_000168 - MORL Deafness Variation Database, PubMed: Rickard 2000, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Rickard 2000, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.840C>A r.(?) p.(Ile280=) Unknown - likely benign g.72184119G>T g.71271884G>T EYA1(NM_000503.5):c.840C>A (p.I280=) - EYA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.840C>A r.(?) p.(Ile280=) Parent #1 - benign g.72184119G>T g.71271884G>T - - EYA1_000011 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.840C>A r.(?) p.(Ile280=) Unknown - likely benign g.72184119G>T - EYA1(NM_000503.5):c.840C>A (p.I280=) - EYA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.845_852del r.(?) p.(Ser282AsnfsTer4) Parent #1 - pathogenic g.72184109_72184116del g.71271874_71271881del - - EYA1_000167 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Orten 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.