C1845146[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300944	NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln)	FGFR1 (R529Q +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2444412	NM_023110.3(FGFR1):c.1550A>C (p.Lys517Thr)	FGFR1 (K424T +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic