Full data view for gene FGFR3

Information The variants shown are described using the NM_000142.4 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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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.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic g.1806119G>A g.1804392G>A FGFR3(NM_000142.4):c.1138G>A (p.G380R, p.(Gly380Arg)), FGFR3(NM_000142.5):c.1138G>A (p.G380R) - FGFR3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic g.1806119G>A g.1804392G>A FGFR3(NM_000142.4):c.1138G>A (p.G380R, p.(Gly380Arg)), FGFR3(NM_000142.5):c.1138G>A (p.G380R) - FGFR3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1138G>A r.(?) p.(Gly380Arg) Parent #1 - VUS g.1806119G>A g.1804392G>A - - FGFR3_000056 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28931614 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic g.1806119G>A - - - FGFR3_000056 - - - - Germline - - - - - DNA SEQ-NG - - HCH 66 - - M - China - - - - - 1 Sha Hong
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic g.1806119G>A - FGFR3(NM_000142.4):c.1138G>A (p.G380R, p.(Gly380Arg)), FGFR3(NM_000142.5):c.1138G>A (p.G380R) - FGFR3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A NM_000142.4:c.1138G>A:p.(Gly380Arg) - FGFR3_000056 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG1402 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A NM_000142.4:c.1138G>A:p.(Gly380Arg) - FGFR3_000056 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG1406 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - 1 LOVD
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A NM_000142.4:c.1138G>A:p.(Gly380Arg) - FGFR3_000056 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0080 PubMed: Maddirevula 2018 isolated case F no - Arab - - - - 1 LOVD
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A NM_000142.4:c.1138G>A:p.(Gly380Arg) - FGFR3_000056 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0701 PubMed: Maddirevula 2018 isolated case F - - Arab - - - - 1 LOVD
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A NM_000142.4:c.1138G>A:p.(Gly380Arg) - FGFR3_000056 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0737 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown ACMG pathogenic (dominant) g.1806119G>A g.1804392G>A - - FGFR3_000056 ACMG PS2, PS4 PubMed: Tang 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia Pat16 PubMed: Tang 2021 fetus - - China - - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat01 Journal: Riba 2021 patient M no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat02 Journal: Riba 2021 patient F no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat03 Journal: Riba 2021 patient M no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat04 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat05 Journal: Riba 2021 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat06 Journal: Riba 2021 patient F no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat07 Journal: Riba 2021 patient M no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat08 Journal: Riba 2021 patient F no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat09 Journal: Riba 2021 patient F no Brazil black - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat10 Journal: Riba 2021 patient M no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat11 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat12 Journal: Riba 2021 patient M no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat13 Journal: Riba 2021 patient M no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat14 Journal: Riba 2021 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat15 Journal: Riba 2021 patient F - Brazil - - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat16 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat17 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat18 Journal: Riba 2021 patient M no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat19 Journal: Riba 2021 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat20 Journal: Riba 2021 patient F no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat21 Journal: Riba 2021 patient F no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat22 Journal: Riba 2021 patient F no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat23 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat24 Journal: Riba 2021 patient M no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat25 Journal: Riba 2021 patient M no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat26 Journal: Riba 2021 patient M no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat27 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat28 Journal: Riba 2021 patient M no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat29 Journal: Riba 2021 patient M no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat30 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat31 Journal: Riba 2021 patient M no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat32 Journal: Riba 2021 patient M no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat33 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat34 Journal: Riba 2021 patient F no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat35 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat36 Journal: Riba 2021 patient M no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat37 Journal: Riba 2021 patient M no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat38 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat39 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat40 Journal: Riba 2021 patient F no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat41 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat42 Journal: Riba 2021 patient F no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat43 Journal: Riba 2021 patient M no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat44 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat45 Journal: Riba 2021 patient F no Brazil - - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat46 Journal: Riba 2021 patient F no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat47 Journal: Riba 2021 patient M no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat48 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat49 Journal: Riba 2021 patient M no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Parent #1 - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A + c.1076-17C>T - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat55 Journal: Riba 2021 patient F - Brazil - - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Parent #1 - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A + c.1076-17C>T - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat56 Journal: Riba 2021 patient F - Brazil - - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Parent #1 - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A + c.1076-17C>T - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat57 Journal: Riba 2021 patient M no Brazil brown - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Parent #1 - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A + c.1076-17C>T - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat58 Journal: Riba 2021 patient F no Brazil white - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Parent #1 - pathogenic (dominant) g.1806119G>A g.1804392G>A p.Gly380ArgG>A + c.1076-17C>T - FGFR3_000056 - Journal: Riba 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - hot spot exons skeletal dysplasia Pat59 Journal: Riba 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic g.1806119G>A - FGFR3(NM_000142.4):c.1138G>A (p.G380R, p.(Gly380Arg)), FGFR3(NM_000142.5):c.1138G>A (p.G380R) - FGFR3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic g.1806119G>A - FGFR3(NM_000142.4):c.1138G>A (p.G380R, p.(Gly380Arg)), FGFR3(NM_000142.5):c.1138G>A (p.G380R) - FGFR3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - pathogenic g.1806119G>A g.1804392G>A - - FGFR3_000056 - - - - De novo - - - - - DNA SEQ-NG blood - ACH - - - - - - - - - - - 1 Dan Feng Fang
+?/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - likely pathogenic (dominant) g.1806119G>A g.1804392G>A - - FGFR3_000056 - PubMed: Jacob 2025 SCV002507158.1 - De novo - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected non-carrier parents - - India - - - - - 1 Johan den Dunnen
+?/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - likely pathogenic (dominant) g.1806119G>A g.1804392G>A - - FGFR3_000056 - PubMed: Jacob 2025 SCV002507158.1 - De novo - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected non-carrier parents - - India - - - - - 1 Johan den Dunnen
+?/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - likely pathogenic (dominant) g.1806119G>A g.1804392G>A - - FGFR3_000056 - PubMed: Jacob 2025 SCV002507158.1 - De novo - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected non-carrier parents - - India - - - - - 1 Johan den Dunnen
+?/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - likely pathogenic (dominant) g.1806119G>A g.1804392G>A - - FGFR3_000056 - PubMed: Jacob 2025 SCV002507158.1 - De novo - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected non-carrier parents - - India - - - - - 1 Johan den Dunnen
+?/. - c.1138G>A r.(?) p.(Gly380Arg) Unknown - likely pathogenic (dominant) g.1806119G>A g.1804392G>A - - FGFR3_000056 - PubMed: Jacob 2025 SCV002507158.1 - De novo - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected non-carrier parents - - India - - - - - 1 Johan den Dunnen
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