"Baylor Genetics"[submitter] AND "FGFR2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13277	NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	FGFR2 (Y375C +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 13268	NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Craniosynostosis syndrome +15 more	GPathogenic
Select item 13293	NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	FGFR2 (W290C +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +12 more	GPathogenic
Select item 13273	NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	FGFR2 (P253R +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +12 more	GPathogenic/Likely pathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic

ClinVar