Full data view for gene EYA1

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

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.58C>G benign r.(?) p.(Pro20Ala) Unknown g.72267083G>C - EYA1(NM_000503.5):c.58C>G (p.P20A) - EYA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.121G>C likely benign r.(?) p.(Glu41Gln) Unknown g.72267020C>G - EYA1(NM_000503.4):c.121G>C (p.(Glu41Gln)) - EYA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.158C>T VUS r.(?) p.(Ala53Val) Unknown g.72246376G>A - EYA1(NM_000503.5):c.158C>T (p.A53V) - EYA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.256C>T pathogenic r.(?) p.(Gln86*) Unknown g.72234450G>A - EYA1(NM_000503.5):c.256C>T (p.(Gln86*)) - EYA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.319G>A likely pathogenic r.(?) p.(Ala107Thr) Unknown g.72234068C>T - EYA1(NM_0172060):c.319G>A (p.Gly107Ser) - EYA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.321T>C likely benign r.(?) p.(=) Unknown g.72234066A>G - EYA1(NM_000503.5):c.321T>C (p.A107=) - EYA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.361G>A VUS r.(?) p.(Ala121Thr) Unknown g.72234026C>T - EYA1(NM_000503.5):c.361G>A (p.(Ala121Thr)) - EYA1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.381C>A pathogenic r.(?) p.(Tyr127*) Unknown g.72234006G>T - EYA1(NM_172058.2):c.381C>A (p.Tyr127*) - EYA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.434G>A VUS r.(?) p.(Gly145Asp) Unknown g.72229909C>T - EYA1(NM_000503.4):c.434G>A (p.(Gly145Asp), p.(Gly140Asp), p.(Gly112Asp)) - EYA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.556+8T>A VUS r.(=) p.(=) Unknown g.72229779A>T - EYA1(NM_000503.4):c.556+8T>A (p.(=)) - EYA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.556+18G>T benign r.(=) p.(=) Unknown g.72229769C>A - EYA1(NM_172058.2):c.556+18G>T (p.?) - EYA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.557-2A>G pathogenic r.spl? p.? Unknown g.72211957T>C - EYA1(NM_000503.5):c.557-2A>G - EYA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.619_622del pathogenic r.(?) p.(Gly207Leufs*33) Unknown g.72211891_72211894del - EYA1(NM_000503.5):c.619_622del (p.(Gly207fs)) - EYA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.744G>A benign r.(?) p.(=) Unknown g.72211364C>T - EYA1(NM_000503.5):c.744G>A (p.T248=) - EYA1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.771G>A likely benign r.(?) p.(=) Unknown g.72211337C>T - EYA1(NM_000503.5):c.771G>A (p.Q257=) - EYA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.782C>T likely benign r.(?) p.(Pro261Leu) Unknown g.72211326G>A - EYA1(NM_000503.5):c.782C>T (p.P261L) - EYA1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.813A>G benign r.(?) p.(=) Unknown g.72211295T>C - EYA1(NM_000503.4):c.813A>G (p.Thr271Thr) - EYA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.840C>A likely benign r.(?) p.(=) Unknown g.72184119G>T - EYA1(NM_000503.5):c.840C>A (p.I280=) - EYA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.865G>T likely benign r.(?) p.(Asp289Tyr) Unknown g.72184094C>A - EYA1(NM_000503.4):c.865G>T (p.(Asp289Tyr), p.(Asp284Tyr), p.(Asp256Tyr)) - EYA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.880C>T pathogenic r.(?) p.(Arg294*) Unknown g.72184079G>A - EYA1(NM_000503.5):c.880C>T (p.(Arg294*)) - EYA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.922C>T pathogenic r.(?) p.(Arg308*) Unknown g.72184037G>A - EYA1(NM_172058.2):c.922C>T (p.Arg308*) - EYA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.966+5G>A pathogenic r.spl? p.? Unknown g.72183988C>T - EYA1(NM_172058.2):c.966+5G>A (p.?) - EYA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.980G>A pathogenic r.(?) p.(Trp327*) Unknown g.72182045C>T - EYA1(NM_172058.2):c.980G>A (p.Trp327*) - EYA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1029del pathogenic r.(?) p.(Tyr344Thrfs*22) Unknown g.72181997del - EYA1(NM_000503.5):c.1029delC (p.Y344Tfs*22) - EYA1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1050G>A likely benign r.(?) p.(=) Unknown g.72181975C>T - EYA1(NM_000503.5):c.1050G>A (p.R350=) - EYA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1081C>T pathogenic r.(?) p.(Arg361*) Unknown g.72156897G>A - EYA1(NM_000503.4):c.1081C>T (p.Arg361*) - EYA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 12 c.1122del pathogenic r.(?) p.(Leu374Phefs*6) Paternal (confirmed) g.72156856del - 1122delA - EYA1_000043 - - - - Germline yes - - 0 - DNA SEQ Blood Previously linkage analysis for SIX1 and Eya1 genes. BOR-1 - - - F no Argentina - - 0 - - 5 Viviana Karina Dalamón
+/. - c.1141-2A>G pathogenic r.spl? p.? Unknown g.72129260T>C - EYA1(NM_000503.5):c.1141-2A>G - EYA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1150C>T pathogenic r.(?) p.(Gln384*) Unknown g.72129249G>A - EYA1(NM_172058.2):c.1150C>T (p.Gln384*) - EYA1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1189C>T pathogenic r.(?) p.(Gln397*) Unknown g.72129210G>A - EYA1(NM_000503.5):c.1189C>T (p.(Gln397*)) - EYA1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1278C>T benign r.(?) p.(=) Unknown g.72129009G>A - EYA1(NM_000503.5):c.1278C>T (p.G426=) - EYA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1278C>T benign r.(?) p.(=) Unknown g.72129009G>A - EYA1(NM_000503.5):c.1278C>T (p.G426=) - EYA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1278C>T benign r.(?) p.(=) Unknown g.72129009G>A - EYA1(NM_000503.5):c.1278C>T (p.G426=) - EYA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1289G>A pathogenic r.(?) p.(Trp430*) Unknown g.72128998C>T - EYA1(NM_172058.2):c.1289G>A (p.Trp430*) - EYA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1319G>A pathogenic r.(?) p.(Arg440Gln) Unknown g.72128968C>T - EYA1(NM_000503.4):c.1319G>A (p.Arg440Gln) - EYA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1436T>A - r.(?) p.(Leu479*) Paternal (confirmed) g.72127888A>T - - - EYA1_000002 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - 0 - DNA SEQ - WES CAKUT 29100090-FamDC1 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-genertion family, heterozygous carrier father M - - - - 0 - - 2 Johan den Dunnen
+/. - c.1459T>C pathogenic r.(?) p.(Ser487Pro) Unknown g.72127865A>G - EYA1(NM_000503.5):c.1459T>C (p.Ser487Pro) - EYA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/? - c.1460C>T - r.(?) p.(Ser487Leu) Parent #1 g.72127864G>A - - - EYA1_000001 same as in unrelated patient, segregation analysis needed - - - Unknown ? - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Marcel Nelen
+?/? - c.1460C>T - r.(?) p.(Ser487Leu) Parent #1 g.72127864G>A - - - EYA1_000001 same as in unrelated patient, segregation analysis needed - - - Unknown ? - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Marcel Nelen
?/. - c.1460C>T VUS r.(?) p.(Ser487Leu) Unknown g.72127864G>A - EYA1(NM_000503.5):c.1460C>T (p.S487L) - EYA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1476-21G>T benign r.(=) p.(=) Unknown g.72127764C>A - EYA1(NM_000503.5):c.1476-21G>T - EYA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1476-2A>G pathogenic r.spl? p.? Unknown g.72127745T>C - EYA1(NM_000503.5):c.1476-2A>G - EYA1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1489A>G VUS r.(?) p.(Asn497Asp) Unknown g.72127730T>C - EYA1(NM_172058.3):c.1489A>G (p.(Asn497Asp)) - EYA1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1523C>T VUS r.(?) p.(Ala508Val) Unknown g.72127696G>A - EYA1(NM_000503.5):c.1523C>T (p.Ala508Val) - EYA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1582A>C VUS r.(?) p.(Ser528Arg) Unknown g.72127637T>G - EYA1(NM_172058.3):c.1582A>C (p.Ser528Arg) - EYA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1597+18T>C benign r.(=) p.(=) Unknown g.72127604A>G - EYA1(NM_000503.5):c.1597+18T>C (p.?) - EYA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1597+18T>C benign r.(=) p.(=) Unknown g.72127604A>G - EYA1(NM_000503.5):c.1597+18T>C (p.?) - EYA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1647G>A likely benign r.(?) p.(=) Unknown g.72123442C>T - EYA1(NM_000503.5):c.1647G>A (p.V549=) - EYA1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1699-23A>G benign r.(=) p.(=) Unknown g.72111678T>C - EYA1(NM_000503.5):c.1699-23A>G - EYA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1699-8T>C likely benign r.(=) p.(=) Unknown g.72111663A>G - EYA1(NM_000503.5):c.1699-8T>C - EYA1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1699-3C>T benign r.spl? p.? Unknown g.72111658G>A - EYA1(NM_000503.5):c.1699-3C>T (p.?) - EYA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1699-3C>T likely benign r.spl? p.? Unknown g.72111658G>A - EYA1(NM_000503.5):c.1699-3C>T (p.?) - EYA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1699-3C>T benign r.spl? p.? Unknown g.72111658G>A - EYA1(NM_000503.5):c.1699-3C>T (p.?) - EYA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1716G>A pathogenic r.(?) p.(Trp572*) Unknown g.72111638C>T - EYA1(NM_000503.5):c.1716G>A (p.W572*) - EYA1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1748T>G pathogenic r.(?) p.(Leu583Arg) Unknown g.72111606A>C - EYA1(NM_172058.2):c.1748T>G (p.Leu583Arg) - EYA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1755T>C benign r.(?) p.(=) Unknown g.72111599A>G - EYA1(NM_000503.5):c.1755T>C (p.H585=) - EYA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1755T>C benign r.(?) p.(=) Unknown g.72111599A>G - EYA1(NM_000503.5):c.1755T>C (p.H585=) - EYA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1755T>C benign r.(?) p.(=) Unknown g.72111599A>G - EYA1(NM_000503.5):c.1755T>C (p.H585=) - EYA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1755T>C benign r.(?) p.(=) Unknown g.72111599A>G - EYA1(NM_000503.5):c.1755T>C (p.H585=) - EYA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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