All transcript variants in gene EYA1

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

232 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.58C>G benign r.(?) p.(Pro20Ala) g.72267083G>C - EYA1(NM_000503.5):c.58C>G (p.P20A) - EYA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/? 6 c.65G>A VUS r.(?) p.(Gly22Asp) g.72267076C>T - - - EYA1_000212 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/? 7 c.107C>T VUS r.(?) p.(Pro36Leu) g.72267034G>A - - - EYA1_000211 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+?/+? 7 c.121G>A Likely pathogenic r.(?) p.(Glu41Lys) g.72267020C>T - - - EYA1_000210 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.158C>T VUS r.(?) p.(Ala53Val) g.72246376G>A - EYA1(NM_000503.5):c.158C>T (p.A53V) - EYA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 7 c.164C>T Pathogenic r.(?) p.(Thr55Met) g.72246370G>A - - - EYA1_000209 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.164C>T - r.(?) p.(Thr55Met) g.72246370G>A g.71334135G>A - - EYA1_000209 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs201434219 Germline - 1/2794 individuals - 0 - Mohammed Faruq
+/. - c.256C>T pathogenic r.(?) p.(Gln86*) g.72234450G>A - - - EYA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 9 c.283C>T Pathogenic r.(?) p.(Pro95Ser) g.72234104G>A - - - EYA1_000208 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/? 9 c.299C>A VUS r.(?) p.(Thr100Asn) g.72234088G>T - - - EYA1_000207 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+?/. - c.319G>A likely pathogenic r.(?) p.(Ala107Thr) g.72234068C>T - - - EYA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 9 c.321del Pathogenic r.(?) p.(Tyr108Ilefs*11) g.72234066del - - - EYA1_000206 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.321T>C likely benign r.(?) p.(=) g.72234066A>G - EYA1(NM_000503.5):c.321T>C (p.A107=) - EYA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.337C>T pathogenic r.(?) p.(Gln113*) g.72234050G>A - - - chr8_005208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 9 c.348del Pathogenic r.(?) p.(Tyr117Ilefs*2) g.72234039del - - - EYA1_000205 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.361G>A VUS r.(?) p.(Ala121Thr) g.72234026C>T - - - EYA1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.381C>A pathogenic r.(?) p.(Tyr127*) g.72234006G>T - - - EYA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 9 c.396_403del Pathogenic r.(?) p.(Thr133Alafs*31) g.72233984_72233991del - - - EYA1_000203 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 9 c.402C>A Pathogenic r.(?) p.(Tyr134*) g.72233985G>T - - - EYA1_000204 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 9 c.403G>A Pathogenic r.(?) p.(Gly135Ser) g.72233984C>T - - - EYA1_000202 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 9 c.418G>A Pathogenic r.(?) p.(Gly140Ser) g.72233969C>T - - - EYA1_000201 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 9 c.428G>A Pathogenic r.(?) p.(Trp143*) g.72229915C>T - - - EYA1_000200 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.434G>A VUS r.(?) p.(Gly145Asp) g.72229909C>T - EYA1(NM_000503.4):c.434G>A (p.(Gly145Asp)) - EYA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/+ 9 c.449_450del Pathogenic r.(?) p.(Asp150Alafs*16) g.72229893_72229894del - - - EYA1_000199 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.466C>T Pathogenic r.(?) p.(Gln156*) g.72229877G>A - - - EYA1_000198 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.487dup Pathogenic r.(?) p.(Thr163Asnfs*4) g.72229856dup - - - EYA1_000197 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.529C>T Pathogenic r.(?) p.(Gln177*) g.72229814G>A - - - EYA1_000196 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.553C>T Pathogenic r.(?) p.(Gln185*) g.72229790G>A - - - EYA1_000195 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.556+8T>A VUS r.(=) p.(=) g.72229779A>T - EYA1(NM_000503.4):c.556+8T>A (p.(=)) - EYA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.556+18G>T benign r.(=) p.(=) g.72229769C>A - - - EYA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.557-2A>G pathogenic r.spl? p.? g.72211957T>C - EYA1(NM_000503.5):c.557-2A>G - EYA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/+ 9i c.557-2A>G Pathogenic r.spl? p.? g.72211957T>C - - - EYA1_000012 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.583_584del Pathogenic r.(?) p.(Pro195Argfs*3) g.72211928_72211929del - - - EYA1_000194 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.588T>A Pathogenic r.(?) p.(Asp196Glu) g.72211924A>T - - - EYA1_000193 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.592G>T Pathogenic r.(?) p.(Asp198Tyr) g.72211920C>A - - - EYA1_000192 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.598dup Pathogenic r.(?) p.(Glu200Glyfs*10) g.72211914dup - - - EYA1_000191 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11 c.602C>G Pathogenic r.(?) p.(Ser201*) g.72211910G>C - - - EYA1_000190 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11 c.605T>C Pathogenic r.(?) p.(Val202Ala) g.72211907A>G - - - EYA1_000189 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/. - c.619_622del pathogenic r.(?) p.(Gly207Leufs*33) g.72211891_72211894del - - - EYA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 11 c.632C>G Pathogenic r.(?) p.(Ser211*) g.72211880G>C - - - EYA1_000188 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11 c.634C>T Pathogenic r.(?) p.(Gln212*) g.72211878G>A - - - EYA1_000187 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11 c.638A>T Pathogenic r.(?) p.(Gln213Leu) g.72211874T>A - - - EYA1_000186 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11 c.639G>C Pathogenic r.(?) p.(Gln213His) g.72211873C>G - - - EYA1_000185 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11i c.639+1G>A Pathogenic r.spl? p.? g.72211872C>T - - - EYA1_000184 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11i c.639+1G>C Pathogenic r.spl? p.? g.72211872C>G - - - EYA1_000183 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11i c.639+2del Pathogenic r.spl? p.? g.72211871del - - - EYA1_000182 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10i c.640-15G>A Pathogenic r.spl? p.? g.72211483C>T - - - EYA1_000181 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11 c.647C>T Pathogenic r.(?) p.(Ser216Phe) g.72211461G>A - - - EYA1_000180 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11 c.654T>A Pathogenic r.(=) p.(=) g.72211454A>T - - - EYA1_000179 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11 c.671G>T Pathogenic r.(?) p.(Gly224Val) g.72211437C>A - - - EYA1_000178 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.671G>T - r.(?) p.(Gly224Val) g.72211437C>A g.71299202C>A - - EYA1_000178 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs201509408 Germline - 1/2794 individuals - 0 - Mohammed Faruq
+/+ 11 c.678C>G Pathogenic r.(?) p.(Tyr226*) g.72211430G>C - - - EYA1_000177 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 12 c.714dup Pathogenic r.(?) p.(Arg239Alafs*17) g.72211394dup - - - EYA1_000176 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 12 c.724A>G Pathogenic r.(?) p.(Ser242Gly) g.72211384T>C - - - EYA1_000175 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-/. - c.744G>A benign r.(?) p.(=) g.72211364C>T - EYA1(NM_000503.5):c.744G>A (p.T248=) - EYA1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 12 c.768C>A Pathogenic r.(?) p.(Asp256Glu) g.72211340G>T - - - EYA1_000173 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 12 c.768del Pathogenic r.(?) p.(Leu257*) g.72211340del - - - EYA1_000174 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.771G>A likely benign r.(?) p.(=) g.72211337C>T - EYA1(NM_000503.5):c.771G>A (p.Q257=) - EYA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 13 c.776dup Pathogenic r.(?) p.(Cys260Metfs*2) g.72211332dup - - - EYA1_000172 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.782C>T likely benign r.(?) p.(Pro261Leu) g.72211326G>A - EYA1(NM_000503.5):c.782C>T (p.P261L) - EYA1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.782C>T - r.(?) p.(Pro261Leu) g.72211326G>A g.71299091G>A - - EYA1_000051 23 heterozygous, 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs77825059 Germline - 25/2768 individuals - 0 - Mohammed Faruq
+/+ 13 c.806del Pathogenic r.(?) p.(Ser269Phefs*9) g.72211302del - - - EYA1_000171 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-/. - c.813A>G benign r.(?) p.(=) g.72211295T>C - - - EYA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 13 c.821del Pathogenic r.(?) p.(Gly274Aspfs*4) g.72211287del - - - EYA1_000170 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 13 c.826G>T Pathogenic r.(?) p.(Asp276Tyr) g.72211282C>A - - - EYA1_000169 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 13 c.831C>A Pathogenic r.(?) p.(Tyr277*) g.72184128G>T - - - EYA1_000168 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.840C>A likely benign r.(?) p.(=) g.72184119G>T - EYA1(NM_000503.5):c.840C>A (p.I280=) - EYA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/- 14 c.840C>A Benign r.(?) p.(=) g.72184119G>T - - - EYA1_000011 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.843_850del Pathogenic r.(?) p.(Phe282Argfs*11) g.72184109_72184116del - - - EYA1_000167 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.851C>G Pathogenic r.(?) p.(Thr284Arg) g.72184108G>C - - - EYA1_000166 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.854dup Pathogenic r.(?) p.(Asp285Glufs*11) g.72184105dup - - - EYA1_000165 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.862_865del Pathogenic r.(?) p.(Pro288Leufs*21) g.72184094_72184097del - - - EYA1_000164 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.865G>T Pathogenic r.(?) p.(Ala289Ser) g.72184094C>A - - - EYA1_000010 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.866del Pathogenic r.(?) p.(Ala289Valfs*21) g.72184093del - - - EYA1_000163 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.875dup Pathogenic r.(?) p.(Ser293Glnfs*3) g.72184084dup - - - EYA1_000162 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/. - c.880C>T pathogenic r.(?) p.(Arg294*) g.72184079G>A - - - EYA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 14 c.880C>T Pathogenic r.(?) p.(Arg294*) g.72184079G>A - - - EYA1_000050 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.882del Pathogenic r.(?) p.(Asn295Thrfs*15) g.72184077del - - - EYA1_000161 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.889C>T Pathogenic r.(?) p.(Arg297*) g.72184070G>A - - - EYA1_000160 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.917del Pathogenic r.(?) p.(Val306Glyfs*4) g.72184042del - - - EYA1_000159 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/. - c.922C>T pathogenic r.(?) p.(Arg308*) g.72184037G>A - - - EYA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 14 c.922C>T Pathogenic r.(?) p.(Arg308*) g.72184037G>A - - - EYA1_000036 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.965A>G Pathogenic r.(?) p.(Glu322Gly) g.72183994T>C - - - EYA1_000158 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.965_966+13del Pathogenic r.spl? p.? g.72183980_72183994del - - - EYA1_000156 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14i c.966+1G>A Pathogenic r.spl? p.? g.72183992C>T - - - EYA1_000157 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/. - c.966+5G>A pathogenic r.spl? p.? g.72183988C>T - - - EYA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 14i c.966+5G>A Pathogenic r.spl? p.? g.72183988C>T - - - EYA1_000034 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 13i c.967-2A>G Pathogenic r.spl? p.? g.72182060T>C - - - EYA1_000155 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 13i c.967-1G>A Pathogenic r.spl? p.? g.72182059C>T - - - EYA1_000154 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.970_971dup Pathogenic r.(?) p.(Asn324Lysfs*23) g.72182054_72182055dup - - - EYA1_000153 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.976_983dup Pathogenic r.(?) p.(Asn329Thrfs*20) g.72182042_72182049dup - - - EYA1_000151 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 14 c.977T>A Pathogenic r.(?) p.(Ile326Asn) g.72182048A>T - - - EYA1_000152 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/. - c.980G>A pathogenic r.(?) p.(Trp327*) g.72182045C>T - - - EYA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 15 c.1016delinsAG Pathogenic r.(?) p.(Arg339Lysfs*12) g.72182009delinsCT - - - EYA1_000150 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 15 c.1028del Pathogenic r.(?) p.(Leu343Argfs*3) g.72181997del - - - EYA1_000049 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/. - c.1029del pathogenic r.(?) p.(Tyr344Thrfs*22) g.72181997del - EYA1(NM_000503.5):c.1029delC (p.Y344Tfs*22) - EYA1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 15 c.1045_1048del Pathogenic r.(?) p.(Ile349Lysfs*3) g.72181977_72181980del - - - EYA1_000149 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.1050G>A likely benign r.(?) p.(=) g.72181975C>T - EYA1(NM_000503.5):c.1050G>A (p.R350=) - EYA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 15i c.1050+1G>C Pathogenic r.spl? p.? g.72181974C>G - - - EYA1_000147 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 15i c.1050+1G>T Pathogenic r.spl? p.? g.72181974C>A - - - EYA1_000148 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
Legend   « First ‹ Prev     1 2 3     Next › Last »