C1845146[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333805	NM_023110.3(FGFR1):c.2044G>A (p.Asp682Asn)	FGFR1 (D589N +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic
Select item 1333806	NM_023110.3(FGFR1):c.391G>C (p.Asp131His)	FGFR1 (D123H +3 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GUncertain significance