Unique variants in gene EYA1

Information The variants shown are described using the NM_172058.2 transcript reference sequence.

206 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     
-/. 1 - c.58C>G r.(?) p.(Pro20Ala) - 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 - - - - - VKGL-NL_Utrecht
?/? 1 6 c.65G>A r.(?) p.(Gly22Asp) - VUS g.72267076C>T g.71354841C>T - - EYA1_000212 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/? 1 7 c.107C>T r.(?) p.(Pro36Leu) - VUS g.72267034G>A g.71354799G>A - - EYA1_000211 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+?/+? 1 7 c.121G>A r.(?) p.(Glu41Lys) - likely pathogenic g.72267020C>T g.71354785C>T - - EYA1_000210 - MORL Deafness Variation Database, PubMed: Reis 2013 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/. 1 - c.158C>T r.(?) p.(Ala53Val) - 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 - - - - - VKGL-NL_Rotterdam
+/+, ?/. 2 7 c.164C>T r.(?) p.(Thr55Met) - pathogenic g.72246370G>A g.71334135G>A - - EYA1_000209 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) MORL Deafness Variation Database, PubMed: Orten 2008, Faruq 2020, submtted - rs201434219 SUMMARY record, Germline - 1/2795 individuals - - - GVsharedLOVD, with Curator vacancy, Mohammed Faruq
+/. 1 - c.256C>T r.(?) p.(Gln86Ter) - pathogenic g.72234450G>A g.71322215G>A - - EYA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 9 c.283C>T r.(?) p.(Pro95Ser) - pathogenic g.72234104G>A g.71321869G>A - - EYA1_000208 - MORL Deafness Variation Database, PubMed: Krug 2011 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/? 1 9 c.299C>A r.(?) p.(Thr100Asn) - VUS g.72234088G>T g.71321853G>T - - EYA1_000207 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+?/. 1 - c.319G>A r.(?) p.(Ala107Thr) - likely pathogenic g.72234068C>T g.71321833C>T - - EYA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 9 c.321del r.(?) p.(Tyr108Ilefs*11) - pathogenic g.72234066del g.71321831del - - EYA1_000206 - MORL Deafness Variation Database, PubMed: Lee 2009 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-?/. 1 - c.321T>C r.(?) p.(Ala107=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.337C>T r.(?) p.(Gln113Ter) - pathogenic g.72234050G>A g.71321815G>A - - EYA1_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 9 c.348del r.(?) p.(Tyr117Ilefs*2) - pathogenic g.72234039del g.71321804del - - EYA1_000205 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/. 1 - c.361G>A r.(?) p.(Ala121Thr) - VUS g.72234026C>T g.71321791C>T - - EYA1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.381C>A r.(?) p.(Tyr127Ter) - pathogenic g.72234006G>T g.71321771G>T - - EYA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 9 c.398_405del r.(?) p.(Pro133HisfsTer14) - pathogenic g.72233984_72233991del g.71321749_71321756del - - EYA1_000203 - MORL Deafness Variation Database, PubMed: Vincent 1997 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 9 c.402C>A r.(?) p.(Tyr134*) - pathogenic g.72233985G>T g.71321750G>T - - EYA1_000204 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Krug 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 9 c.403G>A r.(?) p.(Gly135Ser) - pathogenic g.72233984C>T g.71321749C>T - - EYA1_000202 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 9 c.418G>A r.(?) p.(Gly140Ser) - pathogenic g.72233969C>T g.71321734C>T - - EYA1_000201 - MORL Deafness Variation Database, PubMed: Krug 2011, PubMed: Kim 2014, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 9 c.428G>A r.(?) p.(Trp143*) - pathogenic g.72229915C>T g.71317680C>T - - EYA1_000200 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Duzkale 2013 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/. 1 - c.434G>A r.(?) p.(Gly145Asp) - 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 - - - - - VKGL-NL_Leiden
+/+ 1 9 c.450_451del r.(?) p.(Gly151IlefsTer36) - pathogenic g.72229893_72229894del g.71317658_71317659del - - EYA1_000199 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10 c.466C>T r.(?) p.(Gln156*) - pathogenic g.72229877G>A g.71317642G>A - - EYA1_000198 - MORL Deafness Variation Database, PubMed: Wang 2012 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10 c.489dup r.(?) p.(Leu164SerfsTer24) - pathogenic g.72229856dup g.71317621dup - - EYA1_000197 - MORL Deafness Variation Database, PubMed: Rickard 2000 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10 c.529C>T r.(?) p.(Gln177*) - pathogenic g.72229814G>A g.71317579G>A - - EYA1_000196 - MORL Deafness Variation Database, PubMed: Lee 2007, PubMed: Krug 2011 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10 c.553C>T r.(?) p.(Gln185*) - pathogenic g.72229790G>A g.71317555G>A - - EYA1_000195 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/. 1 - c.556+8T>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-/. 1 - c.556+18G>T r.(=) p.(=) - benign g.72229769C>A g.71317534C>A - - EYA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 2 9i c.557-2A>G r.spl? p.? - pathogenic g.72211957T>C g.71299722T>C EYA1(NM_000503.5):c.557-2A>G - EYA1_000012 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Stockley 2009, PubMed: Xiong 2015 - - SUMMARY record, CLASSIFICATION record - - - - - GVsharedLOVD, with Curator vacancy, VKGL-NL_Utrecht
+/+ 1 10 c.588T>A r.(?) p.(Asp196Glu) - pathogenic g.72211924A>T g.71299689A>T - - EYA1_000193 - MORL Deafness Variation Database, PubMed: Okada 2006, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10 c.588_589del r.(?) p.(Thr197ArgfsTer3) - pathogenic g.72211928_72211929del g.71299693_71299694del - - EYA1_000194 - MORL Deafness Variation Database, PubMed: Stockley 2009 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10 c.592G>T r.(?) p.(Asp198Tyr) - pathogenic g.72211920C>A g.71299685C>A - - EYA1_000192 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10 c.599dup r.(?) p.(Asn200LysfsTer10) - pathogenic g.72211914dup g.71299679dup - - EYA1_000191 - MORL Deafness Variation Database, PubMed: Chang 2004 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11 c.602C>G r.(?) p.(Ser201*) - pathogenic g.72211910G>C g.71299675G>C - - EYA1_000190 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11 c.605T>C r.(?) p.(Val202Ala) - pathogenic g.72211907A>G g.71299672A>G - - EYA1_000189 - MORL Deafness Variation Database, PubMed: Chang 2004 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/. 1 - c.619_622del r.(?) p.(Gly207LeufsTer33) - pathogenic g.72211891_72211894del g.71299656_71299659del - - EYA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 11 c.632C>G r.(?) p.(Ser211*) - pathogenic g.72211880G>C g.71299645G>C - - EYA1_000188 - MORL Deafness Variation Database, PubMed: Uno 2004, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11 c.634C>T r.(?) p.(Gln212*) - pathogenic g.72211878G>A g.71299643G>A - - EYA1_000187 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11 c.638A>T r.(?) p.(Gln213Leu) - pathogenic g.72211874T>A g.71299639T>A - - EYA1_000186 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11 c.639G>C r.(?) p.(Gln213His) - pathogenic g.72211873C>G g.71299638C>G - - EYA1_000185 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11i c.639+1G>A r.spl? p.? - pathogenic g.72211872C>T g.71299637C>T - - EYA1_000184 - MORL Deafness Variation Database, PubMed: Estefanía 2006, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11i c.639+1G>C r.spl? p.? - pathogenic g.72211872C>G g.71299637C>G - - EYA1_000183 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11i c.639+2del r.spl? p.? - pathogenic g.72211871del g.71299636del - - EYA1_000182 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10i c.640-15G>A r.spl? p.(=) - pathogenic g.72211483C>T g.71299248C>T - - EYA1_000181 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11 c.647C>T r.(?) p.(Ser216Phe) - pathogenic g.72211461G>A g.71299226G>A - - EYA1_000180 - MORL Deafness Variation Database, PubMed: Hoskins 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11 c.654T>A r.(?) p.(Tyr218Ter) - pathogenic g.72211454A>T g.71299219A>T - - EYA1_000179 - MORL Deafness Variation Database, PubMed: Stockley 2009, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+, ?/. 2 11 c.671G>T r.(?) p.(Gly224Val) - pathogenic g.72211437C>A g.71299202C>A - - EYA1_000178 1 heterozygous, no homozygous; Clinindb (India) MORL Deafness Variation Database, PubMed: Miyagawa 2013, Faruq 2020, submtted - rs201509408 SUMMARY record, Germline - 1/2795 individuals - - - GVsharedLOVD, with Curator vacancy, Mohammed Faruq
+/+ 1 11 c.678C>G r.(?) p.(Tyr226*) - pathogenic g.72211430G>C g.71299195G>C - - EYA1_000177 - MORL Deafness Variation Database, PubMed: Usami 1999, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 12 c.715dup r.(?) p.(Tyr239LeufsTer50) - pathogenic g.72211394dup g.71299159dup - - EYA1_000176 - MORL Deafness Variation Database, PubMed: Krug 2011 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 12 c.724A>G r.(?) p.(Ser242Gly) - pathogenic g.72211384T>C g.71299149T>C - - EYA1_000175 - MORL Deafness Variation Database, PubMed: Yashima 2003 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-/. 1 - c.744G>A r.(?) p.(Thr248=) - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 12 c.768C>A r.(?) p.(Asp256Glu) - pathogenic g.72211340G>T g.71299105G>T - - EYA1_000173 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 12 c.769del r.(?) p.(Gln257SerfsTer109) - pathogenic g.72211340del g.71299105del - - EYA1_000174 - MORL Deafness Variation Database, PubMed: Krug 2011 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-?/. 1 - c.771G>A r.(?) p.(Gln257=) - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 13 c.777dup r.(?) p.(Glu260ArgfsTer29) - pathogenic g.72211332dup g.71299097dup - - EYA1_000172 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-?/. 3 - c.782C>T r.(?) p.(Pro261Leu) - likely benign g.72211326G>A g.71299091G>A EYA1(NM_000503.5):c.782C>T (p.P261L) - EYA1_000051 VKGL data sharing initiative Nederland, 2 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs77825059 CLASSIFICATION record, Germline - 2/2793 individuals, 23/2793 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
+/+ 1 13 c.806del r.(?) p.(Ser269Phefs*9) - pathogenic g.72211302del g.71299067del - - EYA1_000171 - MORL Deafness Variation Database, PubMed: Chang 2004 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-/. 1 - c.813A>G r.(?) p.(Thr271=) - benign g.72211295T>C g.71299060T>C - - EYA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 13 c.821del r.(?) p.(Gly274Aspfs*4) - pathogenic g.72211287del g.71299052del - - EYA1_000170 - MORL Deafness Variation Database, PubMed: Krug 2011 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 13 c.826G>T r.(?) p.(Asp276Tyr) - pathogenic g.72211282C>A g.71299047C>A - - EYA1_000169 - MORL Deafness Variation Database, PubMed: Clarke 2006, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 13 c.831C>A r.(?) p.(Tyr277*) - pathogenic g.72184128G>T g.71271893G>T - - EYA1_000168 - MORL Deafness Variation Database, PubMed: Rickard 2000, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-?/., -/- 2 14 c.840C>A r.(?) p.(Ile280=) - likely benign, benign g.72184119G>T g.71271884G>T EYA1(NM_000503.5):c.840C>A (p.I280=) - EYA1_000011 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Duzkale 2013 - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Rotterdam, GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.845_852del r.(?) p.(Ser282AsnfsTer4) - pathogenic g.72184109_72184116del g.71271874_71271881del - - EYA1_000167 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.851C>G r.(?) p.(Thr284Arg) - pathogenic g.72184108G>C g.71271873G>C - - EYA1_000166 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.854dup r.(?) p.(Asp285Glufs*11) - pathogenic g.72184105dup g.71271870dup - - EYA1_000165 - MORL Deafness Variation Database, PubMed: Abdelhak 1997 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.863_866del r.(?) p.(Lys288IlefsTer77) - pathogenic g.72184094_72184097del g.71271859_71271862del - - EYA1_000164 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.865G>T r.(?) p.(Ala289Ser) - pathogenic g.72184094C>A g.71271859C>A - - EYA1_000010 - MORL Deafness Variation Database, PubMed: Classen 2013 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.866del r.(?) p.(Ala289Valfs*21) - pathogenic g.72184093del g.71271858del - - EYA1_000163 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.875dup r.(?) p.(Ser293Glnfs*3) - pathogenic g.72184084dup g.71271849dup - - EYA1_000162 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/., +/+ 2 14 c.880C>T r.(?) p.(Arg294Ter), p.(Arg294*) - pathogenic g.72184079G>A g.71271844G>A - - EYA1_000050 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Kumar 1998, PubMed: Krug 2011, PubMed: Xiong 2015 - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Nijmegen, GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.882del r.(?) p.(Asn295Thrfs*15) - pathogenic g.72184077del g.71271842del - - EYA1_000161 - MORL Deafness Variation Database, PubMed: Krug 2011 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.889C>T r.(?) p.(Arg297*) - pathogenic g.72184070G>A g.71271835G>A - - EYA1_000160 - MORL Deafness Variation Database, PubMed: Rickard 2000, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.920del r.(?) p.(Gly307AlafsTer59) - pathogenic g.72184042del g.71271807del - - EYA1_000159 - MORL Deafness Variation Database, PubMed: Sanggaard 2007 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/., +/+ 2 14 c.922C>T r.(?) p.(Arg308Ter), p.(Arg308*) - pathogenic g.72184037G>A g.71271802G>A - - EYA1_000036 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Nijmegen, GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.965A>G r.(?) p.(Glu322Gly) - pathogenic g.72183994T>C g.71271759T>C - - EYA1_000158 - MORL Deafness Variation Database, PubMed: Song 2013 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.966_966+14del r.spl? p.? - pathogenic g.72183980_72183994del g.71271745_71271759del - - EYA1_000156 - MORL Deafness Variation Database, PubMed: Krug 2011 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14i c.966+1G>A r.spl? p.? - pathogenic g.72183992C>T g.71271757C>T - - EYA1_000157 - MORL Deafness Variation Database, PubMed: Hwang 2014 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/., +/+ 2 14i c.966+5G>A r.spl? p.? - pathogenic g.72183988C>T g.71271753C>T - - EYA1_000034 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Nijmegen, GVsharedLOVD, with Curator vacancy
+/+ 1 13i c.967-2A>G r.spl? p.? - pathogenic g.72182060T>C g.71269825T>C - - EYA1_000155 - MORL Deafness Variation Database, PubMed: Kwon 2009, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 13i c.967-1G>A r.spl? p.? - pathogenic g.72182059C>T g.71269824C>T - - EYA1_000154 - MORL Deafness Variation Database, PubMed: Rickard 2000, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.972_973dup r.(?) p.(Phe325CysfsTer42) - pathogenic g.72182054_72182055dup g.71269819_71269820dup - - EYA1_000153 - MORL Deafness Variation Database, PubMed: Vincent 1997 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.976_983dup r.(?) p.(Asn329Thrfs*20) - pathogenic g.72182042_72182049dup g.71269807_71269814dup - - EYA1_000151 - MORL Deafness Variation Database, PubMed: Chang 2004 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14 c.977T>A r.(?) p.(Ile326Asn) - pathogenic g.72182048A>T g.71269813A>T - - EYA1_000152 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/. 1 - c.980G>A r.(?) p.(Trp327Ter) - pathogenic g.72182045C>T g.71269810C>T - - EYA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 15 c.1016delinsAG r.(?) p.(Arg339Lysfs*12) - pathogenic g.72182009delinsCT g.71269774delinsCT - - EYA1_000150 - MORL Deafness Variation Database, PubMed: Vervoort 2002 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/., +/+ 2 15 c.1029del r.(?) p.(Tyr344ThrfsTer22) - pathogenic g.72181997del g.71269762del EYA1(NM_000503.5):c.1029delC (p.Y344Tfs*22) - EYA1_000049 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Orten 2008 - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Utrecht, GVsharedLOVD, with Curator vacancy
+/+ 1 15 c.1048_1050+1del r.(?) p.(Arg350IlefsTer15) - pathogenic g.72181977_72181980del g.71269742_71269745del - - EYA1_000149 - MORL Deafness Variation Database, PubMed: Chang 2004 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-?/. 1 - c.1050G>A r.(?) p.(Arg350=) - likely benign g.72181975C>T g.71269740C>T EYA1(NM_000503.5):c.1050G>A (p.R350=) - EYA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 15i c.1050+1G>C r.spl? p.? - pathogenic g.72181974C>G g.71269739C>G - - EYA1_000147 - MORL Deafness Variation Database, PubMed: Henriksen 2004, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 15i c.1050+1G>T r.spl? p.? - pathogenic g.72181974C>A g.71269739C>A - - EYA1_000148 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14i c.1051-12T>G r.spl? p.(=) - pathogenic g.72156939A>C g.71244704A>C - - EYA1_000146 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14i c.1051-2A>G r.spl? p.? - pathogenic g.72156929T>C g.71244694T>C - - EYA1_000145 - MORL Deafness Variation Database, PubMed: Okada 2006, PubMed: Krug 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 14i c.1051-1G>C r.spl? p.? - pathogenic g.72156928C>G g.71244693C>G - - EYA1_000144 - MORL Deafness Variation Database, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 15 c.1051G>T r.(?) p.(Ala351Ser) - pathogenic g.72156927C>A g.71244692C>A - - EYA1_000143 - 1 more item - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/., +/+ 2 15 c.1081C>T r.(?) p.(Arg361Ter) - pathogenic g.72156897G>A g.71244662G>A - - EYA1_000032 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Nijmegen, GVsharedLOVD, with Curator vacancy
+/+ 1 15 c.1087G>A r.(?) p.(Ala363Thr) - pathogenic g.72156891C>T g.71244656C>T - - EYA1_000142 - MORL Deafness Variation Database, PubMed: Azuma 2000, PubMed: Buller 2001, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 15 c.1088A>T r.(?) p.(Glu363Val) - pathogenic g.72156890T>A g.71244655T>A - - EYA1_000141 - MORL Deafness Variation Database, PubMed: Krug 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/? 1 15 c.1107G>T r.(?) p.(Leu369Phe) - VUS g.72156871C>A g.71244636C>A - - EYA1_000140 - 1 more item - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 16 c.1118_1119del r.(?) p.(Val374Glufs*35) - pathogenic g.72156859_72156860del g.71244624_71244625del - - EYA1_000139 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
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