C0406612[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931981	NM_023110.3(FGFR1):c.1671del (p.Leu557fs)	FGFR1 (L555fs +7 more)	Deletion (frameshift variant)	Encephalocraniocutaneous lipomatosis	GPathogenic
Select item 931702	NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)	FGFR1 (R448W +7 more)	Single nucleotide variant (missense variant)	FGFR1-related disorder +7 more	GUncertain significance
Select item 931498	NM_023110.3(FGFR1):c.937-14G>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +2 more	GConflicting classifications of pathogenicity

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