"Eurofins Ntd Llc (ga)"[submitter] AND "FGFR1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194891	NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)	FGFR1 (P772S +6 more)	Single nucleotide variant (missense variant +1 more)	Osteoglophonic dysplasia +6 more	GBenign/Likely benign
Select item 391205	NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)	FGFR1	Single nucleotide variant (synonymous variant)	Trigonocephaly 1 +5 more	GConflicting classifications of pathogenicity
Select item 194786	NM_023110.3(FGFR1):c.2187-6C>T	FGFR1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 501655	NM_023110.3(FGFR1):c.2007C>T (p.Pro669=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 282690	NM_023110.3(FGFR1):c.1978-8del	FGFR1	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 498044	NM_023110.3(FGFR1):c.1854+19C>T	FGFR1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194121	NM_023110.3(FGFR1):c.1663+9C>T	FGFR1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 594164	NM_023110.3(FGFR1):c.1138T>C (p.Tyr380His)	FGFR1 (Y380H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498519	NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)	FGFR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287594	NM_023110.3(FGFR1):c.615C>T (p.Gly205=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 281889	NM_023110.3(FGFR1):c.463T>C (p.Trp155Arg)	FGFR1 (W155R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595637	NM_023110.3(FGFR1):c.403T>A (p.Ser135Thr)	FGFR1 (S135T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196513	NM_023110.3(FGFR1):c.345C>T (p.Ser115=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Osteoglophonic dysplasia +6 more	GBenign
Select item 196512	NM_023110.3(FGFR1):c.336C>T (p.Thr112=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +8 more	GBenign/Likely benign
Select item 196511	NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)	FGFR1 (S107L +2 more)	Single nucleotide variant (missense variant +1 more)	Osteoglophonic dysplasia +5 more	GBenign/Likely benign
Select item 502125	NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)	FGFR1 (Q72* +2 more)	Single nucleotide variant (nonsense +1 more)	Pfeiffer syndrome +7 more	GPathogenic/Likely pathogenic
Select item 286846	NM_023110.3(FGFR1):c.211G>T (p.Val71Leu)	FGFR1 (V71L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity