"Laboratory of Molecular Genetics, CHU Rennes"[submitter] AND "FGFR1"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235088	NM_023110.3(FGFR1):c.2074G>A (p.Glu692Lys)	FGFR1 (E692K +7 more)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GLikely pathogenic
Select item 235087	NM_023110.3(FGFR1):c.1977+1G>A	FGFR1	Single nucleotide variant (splice donor variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 235086	NM_023110.3(FGFR1):c.1928G>A (p.Gly643Asp)	FGFR1 (G643D +7 more)	Single nucleotide variant (missense variant)	Microform holoprosencephaly	GLikely pathogenic
Select item 223244	NM_023110.3(FGFR1):c.1468G>C (p.Gly490Arg)	FGFR1 (G397R +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic
Select item 235085	NM_023110.3(FGFR1):c.1454G>T (p.Gly485Val)	FGFR1 (G485V +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic
Select item 235084	NM_023110.3(FGFR1):c.749G>C (p.Arg250Pro)	FGFR1 (R250P +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

ClinVar