C0220658[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16296	NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter)	FGFR1 (R609* +7 more)	Single nucleotide variant (nonsense)	Pfeiffer syndrome +2 more	GPathogenic
Select item 435187	NM_023110.3(FGFR1):c.1176G>A (p.Gly392=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +2 more	GBenign/Likely benign
Select item 16289	NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)	FGFR1 (I300T +5 more)	Single nucleotide variant (missense variant)	FGFR1-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 196512	NM_023110.3(FGFR1):c.336C>T (p.Thr112=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	not specified +9 more	GBenign/Likely benign
Select item 362911	NM_023110.3(FGFR1):c.75G>A (p.Pro25=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Trigonocephaly 1 +6 more	GBenign/Likely benign
Select item 383647	NM_000141.5(FGFR2):c.1986+7C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related disorder +13 more	GBenign/Likely benign
Select item 13299	NM_000141.5(FGFR2):c.1084+3A>G	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +2 more	GPathogenic
Select item 13268	NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis +15 more	GPathogenic
Select item 13281	NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)	FGFR2 (W290C +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related disorder +2 more	GPathogenic
Select item 13276	NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)	FGFR2 (Q289P +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +2 more	GPathogenic