Full data view for gene FOXE3

Information The variants shown are described using the NM_012186.2 transcript reference sequence.

134 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     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     
?/. - c.5C>T r.(?) p.(Ala2Val) Unknown - VUS g.47881992C>T - FOXE3(NM_012186.2):c.5C>T (p.A2V) - FOXE3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.16G>A r.(?) p.(Asp6Asn) Parent #1 - benign g.47882003G>A g.47416331G>A - - FOXE3_000021 5/158 African American controls PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 5/682 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - 5 Johan den Dunnen
-/. - c.16G>A r.(?) p.(Asp6Asn) Unknown - benign g.47882003G>A - FOXE3(NM_012186.3):c.16G>A (p.D6N) - FOXE3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.16G>A r.(?) p.(Asp6Asn) Unknown - benign g.47882003G>A - FOXE3(NM_012186.3):c.16G>A (p.D6N) - FOXE3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.21_24del r.(?) p.(Met7Ilefs*216) Unknown - pathogenic g.47882008_47882011del g.47416336_47416339del - - FOXE3_000001 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 3 Daniel Kelberman
+?/. 1 c.21_24del r.(?) p.(Met7Ilefs*216) Both (homozygous) - likely pathogenic g.47882008_47882011del g.47416336_47416339del - - FOXE3_000001 - PubMed: Iseri 2009, Journal: Iseri 2009 - - Germline - - - - - DNA SEQ - - ASGD2 - PubMed: Iseri 2009, Journal: Iseri 2009 4-generation family, 3 affecteds (F, 2M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - 3 Deepti Anand
+/. 1 c.21_24del r.(?) p.(Met7Ilefs*216) Both (homozygous) - pathogenic g.47882008_47882011del g.47416336_47416339del 21_24delGGAT - FOXE3_000001 - PubMed: Ullah 2016 - - Germline yes - - - - DNA SEQ - - ASGD2 - PubMed: Ullah 2016 6-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 4 Johan den Dunnen
?/. - c.37T>G r.(?) p.(Phe13Val) Unknown - VUS g.47882024T>G g.47416352T>G FOXE3(NM_012186.3):c.37T>G (p.F13V) - FOXE3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51T>C r.(?) p.(=) Unknown - likely benign g.47882038T>C - FOXE3(NM_012186.3):c.51T>C (p.P17=) - FOXE3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Pro31Ser) Unknown - VUS g.47882078C>T - FOXE3(NM_012186.2):c.91C>T (p.(Pro31Ser)) - FOXE3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127G>A r.(?) p.(Glu43Lys) Unknown - likely benign g.47882114G>A g.47416442G>A FOXE3(NM_012186.2):c.127G>A (p.E43K) - FOXE3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.135G>A r.(?) p.(Ala45=) Parent #1 - benign g.47882122G>A g.47416450G>A - - FOXE3_000022 1/110 Asian controls PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 1/682 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - 1 Johan den Dunnen
-?/. - c.135G>A r.(?) p.(Ala45=) Unknown - likely benign g.47882122G>A - FOXE3(NM_012186.2):c.135G>A (p.A45=) - FOXE3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.146G>C r.(?) p.(Gly49Ala) Parent #1 - likely pathogenic g.47882133G>C g.47416461G>C - - FOXE3_000009 - PubMed: Iseri 2009, Journal: Iseri 2009 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Iseri 2009, Journal: Iseri 2009 2-generation family, 4 affecteds (3F, M) F;M - Pakistan - - - - - 4 Deepti Anand
-?/. 1 c.146G>C r.(?) p.(Gly49Ala) Parent #1 - likely benign g.47882133G>C g.47416461G>C - - FOXE3_000009 - PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 4/682 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - 4 Johan den Dunnen
?/. - c.158C>T r.(?) p.(Pro53Leu) Unknown - VUS g.47882145C>T g.47416473C>T FOXE3(NM_012186.2):c.158C>T (p.P53L), FOXE3(NM_012186.3):c.158C>T (p.P53L) - FOXE3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.158C>T r.(?) p.(Pro53Leu) Unknown - benign g.47882145C>T - FOXE3(NM_012186.2):c.158C>T (p.P53L), FOXE3(NM_012186.3):c.158C>T (p.P53L) - FOXE3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.159C>T r.(?) p.(Pro53=) Parent #1 - benign g.47882145C>T - 158C>T (P53P) - FOXE3_000023 3/110 Asian controls Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 3/682 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - 3 Johan den Dunnen
+?/. - c.159_199del r.(?) p.(Thr54AlafsTer217) Unknown - VUS g.47882146_47882186del g.47416474_47416514del - - FOXE3_000075 - PubMed: Mansoorshahi 2024 - rs1216242726 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV162 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
-?/. - c.161C>T r.(?) p.(Thr54Met) Unknown - likely benign g.47882148C>T - FOXE3(NM_012186.2):c.161C>T (p.T54M) - FOXE3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163C>A r.(?) p.(Pro55Thr) Unknown - likely benign g.47882150C>A - FOXE3(NM_012186.2):c.163C>A (p.P55T) - FOXE3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174C>T r.(?) p.(Gly58=) Unknown - likely benign g.47882161C>T - FOXE3(NM_012186.2):c.174C>T (p.G58=) - FOXE3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194G>T r.(?) p.(Arg65Leu) Unknown - VUS g.47882181G>T g.47416509G>T - - FOXE3_000038 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. - c.194_196del r.(?) p.(Arg65del) Unknown - pathogenic (dominant) g.47882181_47882183del g.47416509_47416511del 179_181del - FOXE3_000065 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT WCC9PatII1 PubMed: Zhang 2018 2-generation family, 1 affected M - China - - - - - 1 Johan den Dunnen
-?/. - c.225G>T r.(?) p.(Ser75=) Unknown - likely benign g.47882212G>T g.47416540G>T FOXE3(NM_012186.2):c.225G>T (p.S75=) - FOXE3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232G>A r.(?) p.(Ala78Thr) Unknown - VUS g.47882219G>A - FOXE3(NM_012186.2):c.232G>A (p.(Ala78Thr)) - FOXE3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.234G>A r.(?) p.(Ala78=) Unknown - benign g.47882221G>A g.47416549G>A FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=) - FOXE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.234G>A r.(?) p.(Ala78=) Unknown - benign g.47882221G>A g.47416549G>A FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=) - FOXE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.234G>A r.(?) p.(Ala78=) Unknown - benign g.47882221G>A - FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=) - FOXE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Ile80=) Unknown - likely benign g.47882227C>T g.47416555C>T FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=) - FOXE3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Ile80=) Unknown - likely benign g.47882227C>T - FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=) - FOXE3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Ile80=) Unknown - likely benign g.47882227C>T - FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=) - FOXE3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.244A>G r.(?) p.(Met82Val) Both (homozygous) - likely pathogenic g.47882231A>G g.47416559A>G - - FOXE3_000010 - PubMed: Iseri 2009, Journal: Iseri 2009 - - Germline - - - - - DNA SEQ - - ASGD2 - PubMed: Iseri 2009, Journal: Iseri 2009 7-generation family, 6 affecteds (F, 5M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - 6 Deepti Anand
+?/. 1 c.244A>G r.(?) p.(Met82Val) Parent #1 - likely pathogenic g.47882231A>G g.47416559A>G - - FOXE3_000010 - PubMed: Reis 2010, Journal: Reis 2010 - - Germline - - - - - DNA SEQ - - MCOP - PubMed: Reis 2010, Journal: Reis 2010 - - no - white - - - - 1 Deepti Anand
+?/. - c.244A>G r.(?) p.(Met82Val) Unknown - likely pathogenic g.47882231A>G g.47416559A>G c.244A>G, p.(Met82Val) - FOXE3_000010 heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes ? 13860 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+/. - c.244A>G r.(?) p.(Met82Val) Both (homozygous) ACMG pathogenic (recessive) g.47882231A>G - - - FOXE3_000010 ACMG: PS4, PM3, PP1_MOD, PM2_SUP, PP3; sister also affected, co-segregation. PMID: 19708017, 29136273, 29314435 VCV000667373.16 - Germline yes - - - - DNA SEQ-NG-I - - ASGD1 198801 - - F yes Saudi Arabia - - - - - 1 Andreas Laner
+/. 1 c.269G>T r.(?) p.(Arg90Leu) Unknown - pathogenic g.47882256G>T g.47416584G>T - - FOXE3_000003 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Daniel Kelberman
+?/. 1 c.269G>T r.(?) p.(Arg90Leu) Unknown - likely pathogenic g.47882256G>T g.47416584G>T - - FOXE3_000003 - PubMed: Ormestad 2002 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Ormestad 2002 - - no Sweden - - - - - 1 Deepti Anand
-/. 1 c.276C>T r.(?) p.(Leu92=) Parent #1 - benign g.47882263C>T g.47416591C>T - - FOXE3_000024 1/158 African American controls PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 1/682 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - 1 Johan den Dunnen
?/. 1 c.289A>G r.(?) p.(Ile97Val) Parent #1 - likely pathogenic g.47882276A>G g.47416604A>G - - FOXE3_000011 - PubMed: Gillespie 2014 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Gillespie 2014 - - - - - - - - - 1 Deepti Anand
+/. 1 c.289A>G r.(?) p.(Ile97Val) Both (homozygous) - pathogenic g.47882276A>G g.47416604A>G - - FOXE3_000011 - PubMed: Ullah 2016 - - Germline yes - - - - DNA SEQ - - ASGD2 - PubMed: Ullah 2016 6-generation family, 6 affecteds (3F, 3M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - 6 Deepti Anand
+/. - c.289A>G r.(?) p.(Ile97Val) Both (homozygous) - pathogenic (recessive) g.47882276A>G g.47416604A>G - - FOXE3_000011 - PubMed: Basharat 2023, Journal: Basharat 2023 - - Germline yes - - - - DNA SEQ Blood - ? MA201PatIII3 PubMed: Basharat 2023, Journal: Basharat 2023 4-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives F yes Pakistan Asia-S - - - - 4 Rabia Basharat
+?/. 1 c.292T>C r.(?) p.(Tyr98His) Both (homozygous) - likely pathogenic g.47882279T>C g.47416607T>C - - FOXE3_000005 - PubMed: Ali 2010 - - Germline yes - - - - DNA SEQ - - ASGD2 - PubMed: Ali 2010 6-generation family, 9 affecteds (4F, 5M), unaffected heterozygous carrier parents/sibs F;M yes Mexico Mexican, Tlaxcala - - - - 9 Deepti Anand
?/. - c.300C>A r.(?) p.(Phe100Leu) Unknown - VUS g.47882287C>A - FOXE3(NM_012186.3):c.300C>A (p.F100L) - FOXE3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.307G>A r.(?) p.(Glu103Lys) Both (homozygous) - pathogenic (recessive) g.47882294G>A g.47416622G>A - - FOXE3_000048 - PubMed: Chen 2017 - - Germline yes - - - - DNA SEQ - - CTRCT Fam60039 PubMed: Chen 2017 2-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M - - - - - - - 5 Johan den Dunnen
?/. - c.325C>A r.(?) p.(Arg109Ser) Unknown ACMG VUS g.47882312C>A g.47416640C>A FOXE3 c.325C>A p.(Arg109Ser) het FOXE3 c.555dupC p.(Phe186LeufsTer99) het - FOXE3_000059 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 45 genes panel tested retinal disease 17015864 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.325C>T r.(?) p.(Arg109Cys) Unknown - VUS g.47882312C>T - FOXE3(NM_012186.3):c.325C>T (p.(Arg109Cys)) - FOXE3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334C>T r.(?) p.(Pro112Ser) Unknown - likely benign g.47882321C>T g.47416649C>T FOXE3(NM_012186.2):c.334C>T (p.P112S), FOXE3(NM_012186.3):c.334C>T (p.P112S) - FOXE3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334C>T r.(?) p.(Pro112Ser) Unknown - likely benign g.47882321C>T g.47416649C>T FOXE3(NM_012186.2):c.334C>T (p.P112S), FOXE3(NM_012186.3):c.334C>T (p.P112S) - FOXE3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352A>G r.(?) p.(Ser118Gly) Both (homozygous) ACMG VUS g.47882339A>G g.47416667A>G FOXE3 c.352A>G p.(Ser118Gly) hom - FOXE3_000060 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 16017070 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 1 c.358C>G r.(?) p.(Arg120Gly) Both (homozygous) - pathogenic g.47882345C>G g.47416673C>G - - FOXE3_000002 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Daniel Kelberman
?/. - c.404A>G r.(?) p.(Glu135Gly) Unknown - VUS g.47882391A>G g.47416719A>G FOXE3(NM_012186.2):c.404A>G (p.E135G) - FOXE3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410G>A r.(?) p.(Gly137Asp) Unknown - VUS g.47882397G>A - FOXE3(NM_012186.3):c.410G>A (p.(Gly137Asp)) - FOXE3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.416C>T r.(?) p.(Pro139Leu) Unknown - VUS g.47882403C>T - FOXE3(NM_012186.3):c.416C>T (p.P139L) - FOXE3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.419G>A r.(?) p.(Gly140Asp) Unknown - VUS g.47882406G>A - FOXE3(NM_012186.3):c.419G>A (p.G140D) - FOXE3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.423G>A r.(?) p.(Lys141=) Parent #1 - benign g.47882410G>A g.47416738G>A - - FOXE3_000025 6/166 African American controls PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 6/748 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - 6 Johan den Dunnen
-/. - c.423G>A r.(?) p.(Lys141=) Unknown - benign g.47882410G>A g.47416738G>A FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=) - FOXE3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.423G>A r.(?) p.(Lys141=) Unknown - likely benign g.47882410G>A g.47416738G>A FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=) - FOXE3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423G>A r.(?) p.(Lys141=) Unknown - benign g.47882410G>A - FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=) - FOXE3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423G>A r.(?) p.(Lys141=) Unknown - benign g.47882410G>A - FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=) - FOXE3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.430T>C r.(?) p.(Tyr144His) Unknown - VUS g.47882417T>C g.47416745T>C FOXE3(NM_012186.2):c.430T>C (p.Y144H) - FOXE3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431A>G r.(?) p.(Tyr144Cys) Unknown ACMG VUS g.47882418A>G g.47416746A>G FOXE3 c.431A>G, p.(Tyr144Cys) het - FOXE3_000061 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 15000185 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-?/. - c.438G>A r.(?) p.(=) Unknown - likely benign g.47882425G>A - FOXE3(NM_012186.3):c.438G>A (p.T146=) - FOXE3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.445C>T r.(?) p.(Pro149Ser) Parent #1 - benign g.47882432C>T g.47416760C>T - - FOXE3_000026 1/168 Hispanic controls PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 1/748 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - 1 Johan den Dunnen
?/. - c.445C>T r.(?) p.(Pro149Ser) Parent #1 - VUS g.47882432C>T g.47416760C>T - - FOXE3_000026 - PubMed: Li 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Pat31 PubMed: Li 2016 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.504G>A r.(?) p.(Lys168=) Unknown - likely benign g.47882491G>A - FOXE3(NM_012186.2):c.504G>A (p.K168=) - FOXE3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.510C>T r.(=) p.(Ala170=) Unknown - benign g.47882497C>T g.47416825C>T - - FOXE3_000012 silent variant; 48/161 cases, 33/90 controls PubMed: Semina 2001 - - Germline - 81/251 individuals - - - DNA SEQ - - ? - PubMed: Semina 2001 90 controls and 161 cases - - United States - - - - - 81 Deepti Anand
-/. 1 c.510C>T r.(?) p.(Ala170=) Parent #1 - benign g.47882497C>T g.47416825C>T - - FOXE3_000012 - PubMed: Reis 2010, Journal: Reis 2010 - rs34082359 Germline - 233/748 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - 233 Johan den Dunnen
-/. - c.510C>T r.(?) p.(Ala170=) Unknown - benign g.47882497C>T g.47416825C>T FOXE3(NM_012186.3):c.510C>T (p.A170=) - FOXE3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510C>T r.(?) p.(Ala170=) Unknown - likely benign g.47882497C>T g.47416825C>T - - FOXE3_000012 - PubMed: Li 2019 - rs34082359 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
?/. - c.525C>G r.(?) p.(His175Gln) Unknown - VUS g.47882512C>G g.47416840C>G - - FOXE3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.527C>T r.(?) p.(Ala176Val) Parent #1 - benign g.47882514C>T g.47416842C>T - - FOXE3_000027 1/322 Caucasian controls PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 1/748 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - 1 Johan den Dunnen
-?/. - c.527C>T r.(?) p.(Ala176Val) Unknown - likely benign g.47882514C>T - FOXE3(NM_012186.2):c.527C>T (p.A176V) - FOXE3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.542G>A r.(?) p.(Gly181Glu) Unknown - VUS g.47882529G>A g.47416857G>A FOXE3(NM_012186.2):c.542G>A (p.G181E), FOXE3(NM_012186.3):c.542G>A (p.G181E) - FOXE3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.542G>A r.(?) p.(Gly181Glu) Unknown - likely benign g.47882529G>A g.47416857G>A FOXE3(NM_012186.2):c.542G>A (p.G181E), FOXE3(NM_012186.3):c.542G>A (p.G181E) - FOXE3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.543G>T r.(?) p.(Gly181=) Unknown - VUS g.47882530G>T - FOXE3(NM_012186.3):c.543G>T (p.G181=) - FOXE3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.555dup r.(?) p.(Phe186LeufsTer99) Unknown ACMG VUS g.47882542dup g.47416870dup FOXE3 c.325C>A p.(Arg109Ser) het FOXE3 c.555dupC p.(Phe186LeufsTer99) het - FOXE3_000062 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 45 genes panel tested retinal disease 17015864 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 1 c.557del r.(?) p.(Phe186Serfs*38) Both (homozygous) - likely pathogenic g.47882544del g.47416872del - - FOXE3_000013 - PubMed: Reis 2010, Journal: Reis 2010 - - Germline - - - - - DNA SEQ - - MCOP - PubMed: Reis 2010, Journal: Reis 2010 - - - - white - - - - 1 Deepti Anand
?/. - c.571_579del r.(?) p.(Tyr191_Pro193del) Unknown - VUS g.47882558_47882566del - FOXE3(NM_012186.3):c.571_579del (p.(Tyr191_Pro193del)) - FOXE3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.571_579dup r.(?) p.(Tyr191_Pro193dup) Parent #1 - likely pathogenic g.47882558_47882566dup g.47416886_47416894dup - - FOXE3_000014 - PubMed: Brémond-Gignac 2010 - - Germline - - - - - DNA SEQ - - AN - PubMed: Brémond-Gignac 2010 - - - United States - - - - - 1 Deepti Anand
?/. - c.571_579dup r.(?) p.(Tyr191_Pro193dup) Unknown - VUS g.47882558_47882566dup g.47416886_47416894dup FOXE3(NM_012186.2):c.571_579dupTACGCGCCC (p.Y191_P193dup), FOXE3(NM_012186.3):c.571_579dupTACGCGCCC (p.Y191_P193dup) - FOXE3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.571_579dup r.(?) p.(Tyr191_Pro193dup) Unknown - VUS g.47882558_47882566dup g.47416886_47416894dup FOXE3(NM_012186.2):c.571_579dupTACGCGCCC (p.Y191_P193dup), FOXE3(NM_012186.3):c.571_579dupTACGCGCCC (p.Y191_P193dup) - FOXE3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.587G>C r.(?) p.(Gly196Ala) Unknown - likely benign g.47882574G>C g.47416902G>C - - FOXE3_000015 missense variant; 16/161 cases, 7/90 controls PubMed: Semina 2001 - - Germline - 23/251 individuals - - - DNA SEQ - - ? - PubMed: Semina 2001 90 controls and 161 cases - - United States - - - - - 23 Deepti Anand
-?/. - c.587G>C r.(?) p.(Gly196Ala) Unknown - likely benign g.47882574G>C g.47416902G>C FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A) - FOXE3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587G>C r.(?) p.(Gly196Ala) Unknown - likely benign g.47882574G>C g.47416902G>C FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A) - FOXE3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.587G>C r.(?) p.(Gly196Ala) Unknown - benign g.47882574G>C g.47416902G>C FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A) - FOXE3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.587G>C r.(?) p.(Gly196Ala) Unknown - benign g.47882574G>C - FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A) - FOXE3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.587G>C r.(?) p.(Gly196Ala) Parent #1 - benign g.47882574G>C g.47416902G>C - - FOXE3_000015 - PubMed: Reis 2013 - - Germline no - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat23 PubMed: Reis 2013 family, 3 affected - - United States - - - - - 1 Johan den Dunnen
-/. 1 c.601G>A r.(?) p.(Val201Met) Parent #1 - benign g.47882588G>A g.47416916G>A - - FOXE3_000028 - PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 5/748 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - 5 Johan den Dunnen
-/. - c.601G>A r.(?) p.(Val201Met) Unknown - benign g.47882588G>A - FOXE3(NM_012186.3):c.601G>A (p.V201M) - FOXE3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.613T>G r.(?) p.(Ser205Ala) Unknown - likely benign g.47882600T>G g.47416928T>G - - FOXE3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.618C>G r.(=) p.(Ala206=) Unknown - benign g.47882605C>G g.47416933C>G - - FOXE3_000016 silent variant; 9/161 cases, 9/90 controls PubMed: Semina 2001 - - Germline - 18/251 individuals - - - DNA SEQ - - ? - PubMed: Semina 2001 90 controls and 161 cases - - United States - - - - - 18 Deepti Anand
-/. 1 c.618C>G r.(?) p.(Ala206=) Parent #1 - benign g.47882605C>G g.47416933C>G - - FOXE3_000016 - PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 12/748 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - 12 Johan den Dunnen
-/. - c.618C>G r.(?) p.(Ala206=) Unknown - benign g.47882605C>G - FOXE3(NM_012186.3):c.618C>G (p.A206=) - FOXE3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.618C>G r.(?) p.(Ala206=) Both (homozygous) - likely benign g.47882605C>G g.47416933C>G - - FOXE3_000016 - PubMed: Li 2019 - rs189628587 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
-?/. - c.619G>A r.(?) p.(Gly207Arg) Unknown - likely benign g.47882606G>A - FOXE3(NM_012186.2):c.619G>A (p.G207R) - FOXE3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624G>C r.(?) p.(Pro208=) Unknown - likely benign g.47882611G>C - FOXE3(NM_012186.3):c.624G>C (p.P208=) - FOXE3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.703C>T r.(?) p.(Pro235Ser) Unknown - likely benign g.47882690C>T g.47417018C>T FOXE3(NM_012186.2):c.703C>T (p.P235S) - FOXE3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.703C>T r.(?) p.(Pro235Ser) Unknown - likely benign g.47882690C>T g.47417018C>T FOXE3(NM_012186.2):c.703C>T (p.P235S) - FOXE3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.705del r.(?) p.(Glu236Serfs*71) Unknown - pathogenic g.47882692del g.47417020del - - FOXE3_000004 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Daniel Kelberman
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


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