Full data view for gene FGF8

Information The variants shown are described using the NM_033163.3 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     
-?/. - c.-5938T>A r.(?) p.(=) Unknown - likely benign g.103541595A>T g.101781838A>T NPM3(NM_006993.2):c.435T>A (p.(Asp145Glu)) - FGF8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-102_*199{2} r.? p.? Maternal (confirmed) - pathogenic (dominant) g.103012761_103546704dup - - - FGF8_000016 duplication includes BTRC, POLL, DPCD, FBXW4, FGF8 and NPM3; increased expression PubMed: Socha 2021 - - Germline yes - - - - DNA arrayCGH, PCRlr, SEQ, SEQ-NG - - ? Fam1PatII2/III1 PubMed: Socha 2021 3-generation family, affected mother/daugther F - - - - - - - 2 Johan den Dunnen
+/. - c.-102_*199{2} r.? p.? Maternal (confirmed) - pathogenic (dominant) g.103001852_103543913dup - - - FGF8_000017 duplication includes BTRC, POLL, DPCD, FBXW4, FGF8 and NPM3; increased expression PubMed: Socha 2021 - - Germline yes - - - - DNA arrayCGH, PCRlr, SEQ, SEQ-NG - - ? Fam2PatII3/III1/2 PubMed: Socha 2021 3-generation family, affected mother and 2 fetuses F - - - - - - - 3 Johan den Dunnen
?/. - c.9C>A r.(?) p.(Ser3Arg) Unknown - VUS g.103535649G>T - FGF8(NM_033163.5):c.9C>A (p.(Ser3Arg)) - FGF8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.32+11C>T r.(=) p.(=) Unknown - benign g.103535615G>A g.101775858G>A FGF8(NM_033163.5):c.32+11C>T - FGF8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T r.(?) p.(Pro26Leu) Unknown - VUS g.103534966G>A g.101775209G>A FGF8(NM_001206389.1):c.-123-330C>T (p.(=)), FGF8(NM_033163.3):c.77C>T (p.P26L), FGF8(NM_033164.4):c.77C>T (p.P26L) - FGF8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T r.(?) p.(Pro26Leu) Parent #1 - VUS g.103534966G>A g.101775209G>A NM_033163:c.C77T (P26L) 46,XY FGF8_000003 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat77 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.77C>T r.(?) p.(Pro26Leu) Unknown - likely benign g.103534966G>A g.101775209G>A FGF8(NM_001206389.1):c.-123-330C>T (p.(=)), FGF8(NM_033163.3):c.77C>T (p.P26L), FGF8(NM_033164.4):c.77C>T (p.P26L) - FGF8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77C>T r.(?) p.(Pro26Leu) Unknown - likely benign g.103534966G>A - FGF8(NM_001206389.1):c.-123-330C>T (p.(=)), FGF8(NM_033163.3):c.77C>T (p.P26L), FGF8(NM_033164.4):c.77C>T (p.P26L) - FGF8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.86_103dup r.(?) p.(Gly29_Arg34dup) Unknown - likely benign g.103534948_103534965dup g.101775191_101775208dup FGF8(NM_001206389.1):c.-123-321_-123-304dup (p.(=)), FGF8(NM_033163.3):c.86_103dupGCCCTGCGCTGGGCAGGG (p.G29_R34dup), FGF8(NM_033163.4):c.86_103dupG... - FGF8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86_103dup r.(?) p.(Gly29_Arg34dup) Unknown - VUS g.103534948_103534965dup g.101775191_101775208dup FGF8(NM_001206389.1):c.-123-321_-123-304dup (p.(=)), FGF8(NM_033163.3):c.86_103dupGCCCTGCGCTGGGCAGGG (p.G29_R34dup), FGF8(NM_033163.4):c.86_103dupG... - FGF8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.86_103dup r.(?) p.(Gly29_Arg34dup) Unknown - likely benign g.103534948_103534965dup - FGF8(NM_001206389.1):c.-123-321_-123-304dup (p.(=)), FGF8(NM_033163.3):c.86_103dupGCCCTGCGCTGGGCAGGG (p.G29_R34dup), FGF8(NM_033163.4):c.86_103dupG... - FGF8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.86_103dup r.(?) p.(Gly29_Arg34dup) Unknown - likely benign g.103534948_103534965dup - FGF8(NM_001206389.1):c.-123-321_-123-304dup (p.(=)), FGF8(NM_033163.3):c.86_103dupGCCCTGCGCTGGGCAGGG (p.G29_R34dup), FGF8(NM_033163.4):c.86_103dupG... - FGF8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.361A>T^362C>G r.(?) p.(Thr121Ser) Unknown - VUS g.103531303T>A^103531304C>G - - - FGF8_000015 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K173 PubMed: Heidet 2017 affected patient, 1st degree relative and uncle/aunt/cousin - - France - - - - - 3 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Ter) Unknown - pathogenic g.103531285G>A g.101771528G>A - - FGF8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.385C>T r.(?) p.(Arg129Ter) Unknown - likely pathogenic g.103531279G>A g.101771522G>A - - FGF8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.386G>A r.(?) p.(Arg129Gln) Unknown - likely benign g.103531278C>T - FGF8(NM_033163.5):c.386G>A (p.(Arg129Gln)) - FGF8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.426G>C r.(?) p.(Lys142Asn) Unknown - VUS g.103531238C>G - FGF8(NM_033163.4):c.426G>C (p.K142N) - FGF8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432G>A r.(?) p.(Lys144=) Unknown - likely benign g.103531232C>T g.101771475C>T FGF8(NM_033163.3):c.432G>A (p.K144=) - FGF8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.444+19G>A r.(=) p.(=) Unknown - benign g.103531201C>T g.101771444C>T FGF8(NM_033163.5):c.444+19G>A - FGF8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.445-62G>A r.(=) p.(=) Unknown - benign g.103530438C>T g.101770681C>T FGF8(NM_033163.4):c.445-62G>A - FGF8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475C>T r.(?) p.(Pro159Ser) Unknown - association g.103530259G>A g.101770502G>A FGF8 c.475C>T, p.P84S - FGF8_000020 risk factor; different transcript: NM_001206389.1(FGF8):c.250C>T is NM_006119.4(FGF8):c.475C>T PubMed: Peng 2016 - - Unknown ? 1/103 cases - - - DNA SEQ-NG, SEQ - next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study OFC ? PubMed: Peng 2016 - - - Taiwan Taiwanese - - - - 1 LOVD
?/. - c.476C>T r.(?) p.(Pro159Leu) Unknown - association g.103530258G>A g.101770501G>A FGF8 c.476C>T, p.P84L - FGF8_000019 risk factor; different transcript: NM_001206389.1(FGF8):c.251C>T is NM_006119.4(FGF8):c.476C>T PubMed: Peng 2016 - - Unknown ? 1/103 cases - - - DNA SEQ-NG, SEQ - next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study OFC ? PubMed: Peng 2016 - - - Taiwan Taiwanese - - - - 1 LOVD
-/. - c.582G>A r.(?) p.(Thr194=) Unknown - benign g.103530239C>T - FGF8(NM_033163.4):c.582G>A (p.T194=), FGF8(NM_033164.4):c.549G>A (p.T183=) - FGF8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582G>A r.(?) p.(Thr194=) Unknown - likely benign g.103530239C>T - FGF8(NM_033163.4):c.582G>A (p.T194=), FGF8(NM_033164.4):c.549G>A (p.T183=) - FGF8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.686C>T r.(?) p.(Thr229Met) Parent #1 - VUS g.103530135G>A g.101770378G>A - - FGF8_000013 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137852664 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
?/. - c.700G>A r.(?) p.(Gly234Ser) Unknown - VUS g.103530121C>T g.101770364C>T FGF8(NM_033163.3):c.700G>A (p.G234S) - FGF8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.725A>G r.(?) p.(Glu242Gly) Unknown - VUS g.103530096T>C - FGF8(NM_033163.5):c.725A>G (p.(Glu242Gly)) - FGF8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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