Full data view for gene FOXC1

Information The variants shown are described using the NM_001453.2 transcript reference sequence.

119 entries on 2 pages. Showing entries 1 - 100.
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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_ c.-1_*1790{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.1544299_1626937del g.1544064_1626702del g.1544064_1626702del - FOXC1_000081 del FOXC1 PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1142 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_ c.-1_*1790{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.1581752_1615317del g.1581517_1615082del g.1581517_1615082del - FOXC1_000081 del FOXC1 PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1451 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_ c.-1_*1790{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.1604687_1686298del g.1604452_1686063del g.1604452_1686063del - FOXC1_000081 del FOXC1 PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1732 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.-27_*30del r.(?) p.0? Unknown - likely pathogenic g.1610654_1612372del g.1610419_1612137del chr6:1610653-1612371; p.? - FOXC1_000045 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - ASGD3 141 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.-27_*30del r.(?) p.0? Unknown - likely pathogenic g.1610654_1612372del g.1610419_1612137del chr6:1610653-1612371; p.? - FOXC1_000045 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - ASGD3 264 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.-27_*30dup r.(?) p.(?) Unknown - likely pathogenic g.1610654_1612372dup g.1610419_1612137dup chr6:1610653-1612371; p.? - FOXC1_000046 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - ASGD3 153 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.-531_*1790{0} r.0 p.0 Unknown ACMG pathogenic g.(?_1478641)_(2694750_?)del - g.1478641-2694750del - FOXC1_000073 - - - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - WGS RIEG - - - F - China - - - - - 1 Youjia Zhang
+/. - c.-531_*1790{0} r.0 p.0 Unknown ACMG pathogenic g.(?_382441)_(2333070_?)del - g.382441-2333070del - FOXC1_000073 - - - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - WGS RIEG - - - M yes China Chinese - - - - 1 Youjia Zhang
?/. - c.? r.(?) p.(Ser339Phe) Unknown - VUS g.? - - - LAMA2_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K106 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.75C>G r.(?) p.(Tyr25*) Unknown - likely pathogenic g.1610755C>G g.1610520C>G c.75C-->G; p.Tyr25* - FOXC1_000047 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - ASGD3 148 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.92_100del r.(?) p.(Ala31_Ala33del) Unknown - likely benign g.1610772_1610780del g.1610537_1610545del FOXC1(NM_001453.2):c.81_89del (p.(Ala31_Ala33del)), FOXC1(NM_001453.3):c.92_100delCGGCGGCCG (p.A31_A33del) - FOXC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92_100del r.(?) p.(Ala31_Ala33del) Unknown - likely benign g.1610772_1610780del - FOXC1(NM_001453.2):c.81_89del (p.(Ala31_Ala33del)), FOXC1(NM_001453.3):c.92_100delCGGCGGCCG (p.A31_A33del) - FOXC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.141C>G r.(?) p.(Tyr47Ter) Unknown - pathogenic g.1610821C>G - FOXC1(NM_001453.3):c.141C>G (p.Y47*) - FOXC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159C>T r.(?) p.(Ala53=) Unknown - likely benign g.1610839C>T g.1610604C>T FOXC1(NM_001453.3):c.159C>T (p.A53=) - FOXC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.192C>T r.(?) p.(Tyr64*) Unknown - likely pathogenic g.1610872C>T g.1610637C>T c.192C-->T; p.Tyr64* - FOXC1_000048 confirmed with Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - ASGD3 186 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.204G>C r.(?) p.(Thr68=) Unknown - likely benign g.1610884G>C g.1610649G>C FOXC1(NM_001453.3):c.204G>C (p.T68=) - FOXC1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.206del r.(?) p.(Pro69Argfs*9) Maternal (inferred) - pathogenic g.1610886del g.1610651del 205delC - FOXC1_000049 - - - - Germline ? - - - - DNA SEQ-NG-I - gene panel RIEG - - - - - China Chinese - - - - 1 Youjia Zhang
?/. - c.209A>G r.(?) p.(Gln70Arg) Unknown - VUS g.1610889A>G - FOXC1(NM_001453.3):c.209A>G (p.Q70R) - FOXC1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.213_214insT r.(?) p.(Gln72Serfs*11) Unknown ACMG pathogenic g.1610893_1610894insT g.1610658_1610659insT - - FOXC1_000092 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG blood - RIEG3 - - - F - Brazil - - - - - 1 Juliana Mazzeu
+?/. - c.236C>T r.(?) p.(Pro79Leu) Unknown ACMG likely pathogenic (dominant) g.1610916C>T - - - FOXC1_000058 - - - - De novo - - - - - DNA SEQ-NG-I - - RIEG - - - F yes China Chinese - - - - 2 Youjia Zhang
+?/. - c.241_243dup r.(?) p.(Tyr81dup) Unknown ACMG pathogenic g.1610921_1610923dup g.1610686_1610688dup 240_241insTAT - FOXC1_000059 - - - - Germline - - - - - DNA SEQ-NG-I - - RIEG - - - M yes China Chinese - - - - 1 Youjia Zhang
+?/. - c.246C>G r.(?) p.(Ser82Arg) Unknown - likely pathogenic g.1610926C>G g.1610691C>G - - FOXC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.246C>G r.(?) p.(Ser82Arg) Paternal (confirmed) ACMG likely pathogenic g.1610926C>G - - - FOXC1_000010 - - - - Germline yes - - - - DNA SEQ-NG-I - - RIEG - - - F yes China Chinese - - - - 2 Youjia Zhang
+?/. - c.247T>C r.(?) p.(Tyr83His) Unknown ACMG likely pathogenic g.1610927T>C - - - FOXC1_000038 ACMG grading: PM1,PM2,PP2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. - c.247T>C r.(?) p.(Tyr83His) Unknown ACMG likely pathogenic g.1610927T>C - - - FOXC1_000038 - - - - De novo yes - - - - DNA SEQ-NG-I - - RIEG - - - M yes China Chinese - - - - 1 Youjia Zhang
+/. - c.254dupC r.(?) p.(Leu86AlafsTer220) Unknown ACMG pathogenic (dominant) g.1610934dup g.1610699dup 254dupC - FOXC1_000097 ACMG PVS1, PM1, PM2 PubMed: Thanikachalam 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ASGD Fam11PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected parents F - United States white;Hispanic - - - - 1 Johan den Dunnen
+?/. - c.256C>T r.(?) p.(Leu86Phe) Unknown ACMG likely pathogenic g.1610936C>T g.1610701C>T FOXC1 c.256C>T p.(Leu86Phe) het - FOXC1_000074 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 45 genes panel tested retinal disease 15022193 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.257T>C r.(?) p.(Leu86Pro) Unknown ACMG likely pathogenic g.1610937T>C - - - FOXC1_000060 - - - - De novo yes - - - - DNA SEQ-NG-I - - RIEG - - - M yes China - - - - - 1 Youjia Zhang
+?/. - c.275A>C r.(?) p.(Gln92Pro) Unknown ACMG likely pathogenic g.1610955A>C - - - FOXC1_000061 - - - - De novo yes - - - - DNA SEQ-NG-I - - RIEG - - - M yes China Chinese - - - - 1 Youjia Zhang
+?/. - c.275A>C r.(?) p.(Gln92Pro) Unknown - likely pathogenic g.1610955A>C - - - FOXC1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.291G>C r.(?) p.(Lys97Asn) Unknown - VUS g.1610971G>C g.1610736G>C - - FOXC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.316C>T r.(?) p.(Gln106Ter) Unknown ACMG pathogenic (dominant) g.1610996C>T g.1610761C>T - - FOXC1_000098 ACMG PVS1, PM2, PP3, PP5 PubMed: Thanikachalam 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ASGD Fam3PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected non-carrier mother M - United States white;non-Hispanic - - - - 1 Johan den Dunnen
?/. - c.325A>G r.(?) p.(Met109Val) Unknown - VUS g.1611005A>G - FOXC1(NM_001453.2):c.325A>G (p.(Met109Val)) - FOXC1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.333C>T r.(?) p.(Arg111=) Unknown - likely benign g.1611013C>T - FOXC1(NM_001453.3):c.333C>T (p.R111=) - FOXC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.361G>A r.(?) p.(Gly121Ser) Paternal (confirmed) - pathogenic g.1611041G>A g.1610806G>A c.361G>A - FOXC1_000076 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ - - ? Pat46 PubMed: Thomas 2022 patient, affected father, sister and son - no France - - - - - 4 Johan den Dunnen
+?/. - c.364T>G r.(?) p.(Trp122Gly) Unknown ACMG VUS g.1611044T>G - - - FOXC1_000062 - - - - Germline yes - - - - DNA SEQ-NG-I - - RIEG - - - M yes China Chinese - - - - 2 Youjia Zhang
+?/. - c.365_366insCT r.(?) p.(Trp122Cysfs*60) Unknown - likely pathogenic g.1611045_1611046insCT g.1610810_1610811insCT c.365_366insCT, c.368_370delinsC; p.Trp122Cysfs*60, p.Gln123Profs*182 - FOXC1_000050 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - ASGD3 154 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.367C>T r.(?) p.(Gln123*) Unknown - likely pathogenic g.1611047C>T g.1610812C>T c.367C-->T; p.Gln123* - FOXC1_000051 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - ASGD3 54 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.367C>T r.(?) p.(Gln70*) Unknown - likely pathogenic g.1611047C>T g.1610812C>T error in annotation: c.367C-->T instead of C>G; p.Gln70* - FOXC1_000051 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - ASGD3 162 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.368_370delinsC r.(?) p.(Gln123Profs*182) Unknown - likely pathogenic g.1611048_1611050delinsC g.1610813_1610815delinsC c.365_366insCT, c.368_370delinsC; p.Trp122Cysfs*60, p.Gln123Profs*182 - FOXC1_000052 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - ASGD3 154 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.380G>A r.(?) p.(Arg127His) Unknown ACMG likely pathogenic g.1611060G>A - - - FOXC1_000063 - - - - Germline yes - - - - DNA SEQ-NG-I - - RIEG - - - M yes China Chinese - - - - 2 Youjia Zhang
+?/. - c.380G>A r.(?) p.(Arg127His) Unknown ACMG likely pathogenic g.1611060G>A - - - FOXC1_000063 - - - - Germline yes - - - - DNA SEQ-NG-I - - RIEG - - - F yes China Chinese - - - - 2 Youjia Zhang
+/. - c.380G>T r.(?) p.(Arg127Leu) Unknown - pathogenic g.1611060G>T g.1610825G>T - - FOXC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.387C>A r.(?) p.(Asn129Lys) Unknown - likely pathogenic g.1611067C>A g.1610832C>A c.387C-->A, c.1239G-->C; p.Asn129Lys, p.Gln413His - FOXC1_000053 confirmed with Sanger sequencing; heterozygous PubMed: Patel 2019 - - De novo ? - - - - DNA SEQ-NG blood - ASGD3 67 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.388C>T r.(?) p.(Leu130Phe) Unknown ACMG pathogenic g.1611068C>T - - - FOXC1_000064 - - - - De novo ? - - - - DNA SEQ-NG-I - - RIEG - - - M yes China Chinese - - - - 1 Youjia Zhang
+/. - c.392C>A r.(?) p.(Ser131Ter) Unknown - pathogenic g.1611072C>A g.1610837C>A - - FOXC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.392C>G r.(?) p.(Ser131Trp) Unknown - likely pathogenic g.1611072C>G g.1610837C>G FOXC1(NM_001453.3):c.392C>G (p.S131W) - FOXC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.392C>G r.(?) p.(Ser131Trp) Unknown - likely pathogenic g.1611072C>G g.1610837C>G FOXC1(NM_001453.3):c.392C>G (p.S131W) - FOXC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.392C>T r.(?) p.(Ser131Leu) Unknown ACMG likely pathogenic g.1611072C>T - - - FOXC1_000065 - - - - Germline yes - - - - DNA SEQ-NG-I - - RIEG - - - M yes China Chinese - - - - 2 Youjia Zhang
+?/. - c.399C>G r.(?) p.(Asn133Lys) Unknown ACMG VUS g.1611079C>G - - - FOXC1_000066 - - - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - RIEG - - - F - China Chinese - - - - 1 Youjia Zhang
+/. - c.400G>T r.(?) p.(Glu134*) Unknown - pathogenic g.1611080G>T - - - FOXC1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405C>T r.(?) p.(=) Unknown - likely benign g.1611085C>T - FOXC1(NM_001453.3):c.405C>T (p.(Cys135=)) - FOXC1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.430A>T r.(?) p.(Lys144*) Unknown ACMG likely pathogenic g.1611110A>T - - - FOXC1_000067 - - - - Germline ? - - - - DNA SEQ-NG-I - - RIEG - - - F yes China - - - - - 2 Youjia Zhang
+/. - c.448del r.(?) p.(Ser150Alafs*31) Unknown - pathogenic g.1611128del g.1610893del - - FOXC1_000039 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. - c.481A>G r.(?) p.(Met161Val) Unknown ACMG likely pathogenic g.1611161A>G g.1610926A>G FOXC1 c.481A>G p.(Met161Val) het - FOXC1_000075 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 45 genes panel tested retinal disease 17009449 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.482T>A r.(?) p.(Met161Lys) Unknown ACMG VUS g.1611162T>A - - - FOXC1_000068 - - - - Germline ? - - - - DNA SEQ-NG-I - - RIEG - - - M yes China Chinese - - - - 2 Youjia Zhang
+?/. - c.513_518del r.(?) p.(Arg172_Arg173del) Unknown ACMG pathogenic g.1611193_1611198del g.1610958_1610963del - - FOXC1_000069 - - - - Germline no - - - - DNA SEQ-NG-I - - RIEG - - - F yes China Chinese - - - - 1 Youjia Zhang
?/. - c.532G>C r.(?) p.(Asp178His) Unknown - VUS g.1611212G>C - FOXC1(NM_001453.3):c.532G>C (p.D178H) - FOXC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.532G>C r.(?) p.(Asp178His) Unknown - VUS g.1611212G>C - FOXC1(NM_001453.3):c.532G>C (p.D178H) - FOXC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.553_555del r.(?) p.(Glu185del) Unknown - likely pathogenic g.1611233_1611235del g.1610998_1611000del - - FOXC1_000044 - PubMed: Huang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel glaucoma G378 PubMed: Huang 2015 family F - China - - - - - 1 LOVD
?/. - c.556A>G r.(?) p.(Lys186Glu) Unknown - VUS g.1611236A>G g.1611001A>G - - FOXC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.559G>A r.(?) p.(Asp187Asn) Unknown - likely benign g.1611239G>A g.1611004G>A FOXC1(NM_001453.2):c.559G>A (p.(Asp187Asn)) - FOXC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.592_593delinsC r.(?) p.(Gly198Profs*117) Unknown ACMG pathogenic g.1611272_1611273delinsC - - - FOXC1_000057 - - - - Germline yes - - - - DNA SEQ-NG-I - - RIEG - - - M yes China Chinese - - - - 2 Youjia Zhang
-?/. - c.600G>C r.(?) p.(Gln200His) Unknown - likely benign g.1611280G>C - FOXC1(NM_001453.3):c.600G>C (p.Q200H) - FOXC1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600G>C r.(?) p.(Gln200His) Unknown - likely benign g.1611280G>C - FOXC1(NM_001453.3):c.600G>C (p.Q200H) - FOXC1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.609del r.(?) p.(Ala204Argfs*111) Paternal (confirmed) - pathogenic g.1611289del g.1611054del 609delC - FOXC1_000001 - PubMed: Kelberman 2011, Journal: Kelberman 2011 - - Germline - - - - - DNA SEQ - - ? 21837767-PatII1 PubMed: Kelberman 2011, Journal: Kelberman 2011 2-generation family, affected father, mother and 2 children F - United Kingdom (Great Britain) - - - - - 4 Daniel Kelberman
+/. 1 c.609del r.(?) p.(Ala204Argfs*111) Unknown - pathogenic g.1611289del g.1611054del 609delC - FOXC1_000001 - PubMed: Kelberman 2011, Journal: Kelberman 2011 - - Germline - - - - - DNA SEQ - - ? 21837767-PatI1 PubMed: Kelberman 2011, Journal: Kelberman 2011 affected father M - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 1 c.609del r.(?) p.(Ala204Argfs*111) Paternal (confirmed) - pathogenic g.1611289del g.1611054del 609delC - FOXC1_000001 - PubMed: Kelberman 2011, Journal: Kelberman 2011 - - Germline yes - - - - DNA SEQ - - ? 21837767-PatII2 PubMed: Kelberman 2011, Journal: Kelberman 2011 brother M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.688A>G r.(?) p.(Asn230Asp) Unknown - VUS g.1611368A>G g.1611133A>G FOXC1(NM_001453.2):c.688A>G (p.(Asn230Asp)) - FOXC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.718C>T r.(?) p.(Leu240=) Unknown - likely benign g.1611398C>T g.1611163C>T FOXC1(NM_001453.3):c.718C>T (p.L240=) - FOXC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.718_719del r.(?) p.(Leu240Valfs*65) Unknown - likely pathogenic g.1611398_1611399del g.1611163_1611164del c.718_719delCT, c.889C-->T; p.Leu240Valfs*65, p.Pro297Ser - FOXC1_000054 confirmed with Sanger sequencing; heterozygous PubMed: Patel 2019 - - De novo ? - - - - DNA SEQ-NG blood - RIEG3 10 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.718_719del r.(?) p.(Leu240Valfs*65) Unknown ACMG pathogenic g.1611398_1611399del g.1611163_1611164del - - FOXC1_000054 - - - - Germline yes - - - - DNA SEQ-NG-I - - RIEG - - - F yes China - - - - - 3 Youjia Zhang
-?/. - c.759G>T r.(?) p.(=) Unknown - likely benign g.1611439G>T - FOXC1(NM_001453.3):c.759G>T (p.(Ala253=)) - FOXC1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.843G>T r.(?) p.(Arg281=) Unknown - likely benign g.1611523G>T g.1611288G>T FOXC1(NM_001453.3):c.843G>T (p.R281=) - FOXC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.860G>A r.(?) p.(Gly287Asp) Unknown - VUS g.1611540G>A - FOXC1(NM_001453.2):c.860G>A (p.(Gly287Asp)) - FOXC1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.889C>T r.(?) p.(Pro297Ser) Unknown - likely benign g.1611569C>T g.1611334C>T FOXC1(NM_001453.3):c.889C>T (p.(Pro297Ser), p.P297S) - FOXC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.889C>T r.(?) p.(Pro297Ser) Unknown - likely pathogenic g.1611569C>T g.1611334C>T c.718_719delCT, c.889C-->T; p.Leu240Valfs*65, p.Pro297Ser - FOXC1_000024 confirmed with Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - RIEG3 10 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
-/. - c.889C>T r.(?) p.(Pro297Ser) Unknown - benign g.1611569C>T - FOXC1(NM_001453.3):c.889C>T (p.(Pro297Ser), p.P297S) - FOXC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.894C>T r.(?) p.(Ser298=) Unknown - likely benign g.1611574C>T - FOXC1(NM_001453.3):c.894C>T (p.S298=) - FOXC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.961C>T r.(?) p.(Pro321Ser) Unknown - VUS g.1611641C>T - FOXC1(NM_001453.3):c.961C>T (p.P321S) - FOXC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.962C>A r.(?) p.(Pro321Gln) Unknown - likely benign g.1611642C>A - FOXC1(NM_001453.3):c.962C>A (p.P321Q, p.(Pro321Gln)) - FOXC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.962C>A r.(?) p.(Pro321Gln) Unknown - likely benign g.1611642C>A - FOXC1(NM_001453.3):c.962C>A (p.P321Q, p.(Pro321Gln)) - FOXC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.962C>G r.(?) p.(Pro321Arg) Unknown - VUS g.1611642C>G - FOXC1(NM_001453.2):c.962C>G (p.(Pro321Arg)) - FOXC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1009_1012dup r.(?) p.(Ala338GlyfsTer191) Unknown - pathogenic (dominant) g.1611689_1611692dup g.1611454_1611457dup - - FOXC1_000079 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam25760 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+?/. - c.1053_1056dup r.(?) p.(Tyr353Argfs*176) Unknown - likely pathogenic g.1611733_1611736dup g.1611498_1611501dup c.1053_1056dup; p.Tyr353Argfs*176 - FOXC1_000055 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - ASGD3 152 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 8i_10i c.1086-97_1380+375del r.(1086_1380del) p.(Asn362LysfsTer22) Both (homozygous) - pathogenic (recessive) g.56419460_56423388del g.56385548_56389476del del ex9-10 hg38:chr16:56385545-56389473 - AMFR_000004 - PubMed: Deng 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG Fam8Pat20 PubMed: Deng 2023 sister F yes Egypt - - - - - 1 Johan den Dunnen
?/. - c.1090C>T r.(?) p.(Pro364Ser) Unknown - VUS g.1611770C>T - FOXC1(NM_001453.2):c.1090C>T (p.(Pro364Ser)) - FOXC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1134C>T r.(?) p.(Gly378=) Unknown - likely benign g.1611814C>T - FOXC1(NM_001453.3):c.1134C>T (p.G378=) - FOXC1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1139_1141del r.(?) p.(Gly380del) Parent #1 - VUS g.1611819_1611821del g.1611584_1611586del - - FOXC1_000042 no genotypes reported PubMed: Sergouniotis 2016 - rs751183793 Germline - 1/181 individuals - - - DNA SEQ-NG - gene panel CTRCT - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
./. - c.1139_1141dup r.(?) p.(Gly380dup) Unknown - likely pathogenic g.1611819_1611821dup g.1611584_1611586dup NM_001453.2(FOXC1):c.1139_1141dup p.(Gly380dup) - FOXC1_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-059B PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.1139_1141dup r.(?) p.(Gly380dup) Unknown - likely pathogenic g.1611819_1611821dup g.1611584_1611586dup NM_001453.2(FOXC1):c.1139_1141dup p.(Gly380dup) - FOXC1_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-112A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.1139_1141dup r.(?) p.(Gly380dup) Unknown - likely pathogenic g.1611819_1611821dup g.1611584_1611586dup NM_001453.2(FOXC1):c.1139_1141dup p.(Gly380dup) - FOXC1_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-167A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.1139_1141dup r.(?) p.(Gly380dup) Unknown - likely pathogenic g.1611819_1611821dup g.1611584_1611586dup NM_001453.2(FOXC1):c.1139_1141dup p.(Gly380dup) - FOXC1_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-703A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.1139_1141dup r.(?) p.(Gly380dup) Unknown - likely pathogenic g.1611819_1611821dup g.1611584_1611586dup NM_001453.2(FOXC1):c.1139_1141dup p.(Gly380dup) - FOXC1_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-772A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.1139_1141dup r.(?) p.(Gly380dup) Unknown - likely benign g.1611819_1611821dup g.1611584_1611586dup FOXC1(NM_001453.2):c.1122_1123insGGC (p.(Gly380dup)) - FOXC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170C>G r.(?) p.(Ala390=) Unknown - likely benign g.1611850C>G g.1611615C>G FOXC1(NM_001453.3):c.1170C>G (p.A390=) - FOXC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1193_1196dup r.(?) p.(Met400Serfs*129) Paternal (confirmed) - likely pathogenic g.1611873_1611876dup g.1611638_1611641dup 1191_1196dup - FOXC1_000002 - - - - Germline yes - - - - DNA SEQ - - glaucoma - - - M no - - - - - - 1 Elena Semina
+?/. - c.1239G>C r.(?) p.(Gln413His) Unknown - likely pathogenic g.1611919G>C g.1611684G>C c.387C-->A, c.1239G-->C; p.Asn129Lys, p.Gln413His - FOXC1_000056 confirmed with Sanger sequencing; heterozygous PubMed: Patel 2019 - - De novo ? - - - - DNA SEQ-NG blood - ASGD3 67 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.1300C>T r.(?) p.(Pro434Ser) Unknown - VUS g.1611980C>T - FOXC1(NM_001453.2):c.1300C>T (p.(Pro434Ser)) - FOXC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1326_1328del r.(?) p.(Ser443del) Unknown - VUS g.1612006_1612008del - FOXC1(NM_001453.3):c.1326_1328del (p.(Ser443del)) - FOXC1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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