"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 362896	NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)	FGFR1 (M456I +7 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 16289	NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)	FGFR1 (I300T +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 974815	NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp)	FGFR1 (G135D +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362904	NM_023110.3(FGFR1):c.449-9C>G	FGFR1	Single nucleotide variant (intron variant)	Trigonocephaly 1 +5 more	GBenign/Likely benign
Select item 449298	NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala)	FGFR1 (D129A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 362911	NM_023110.3(FGFR1):c.75G>A (p.Pro25=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	FGFR1-related condition +6 more	GBenign/Likely benign

ClinVar