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

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2469981	NM_000141.5(FGFR2):c.2389G>T (p.Val797Phe)	FGFR2 (V680F +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2387023	NM_000141.5(FGFR2):c.2290A>G (p.Thr764Ala)	FGFR2 (T649A +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229712	NM_000141.5(FGFR2):c.2205G>C (p.Met735Ile)	FGFR2 (M620I +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291686	NM_000141.5(FGFR2):c.2108C>T (p.Pro703Leu)	FGFR2 (P475L +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 521431	NM_000141.5(FGFR2):c.1991G>A (p.Arg664Gln)	FGFR2 (R664Q +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2228559	NM_000141.5(FGFR2):c.1852G>A (p.Ala618Thr)	FGFR2 (A390T +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228032	NM_000141.5(FGFR2):c.1537A>G (p.Thr513Ala)	FGFR2 (T398A +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243392	NM_000141.5(FGFR2):c.1394A>G (p.Glu465Gly)	FGFR2 (E237G +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479385	NM_000141.5(FGFR2):c.1351C>G (p.Leu451Val)	FGFR2 (L223V +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GUncertain significance
Select item 2310022	NM_000141.5(FGFR2):c.1313T>C (p.Met438Thr)	FGFR2 (M321T +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3278667	NM_000141.5(FGFR2):c.1148T>C (p.Ile383Thr)	FGFR2 (I268T +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 29856	NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp)	FGFR2 (Y381D +6 more)	Single nucleotide variant (missense variant +2 more)	Bent bone dysplasia syndrome 1 +3 more	GPathogenic
Select item 2294474	NM_000141.5(FGFR2):c.1117C>T (p.Pro373Ser)	FGFR2 (P261S +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2252250	NM_000141.5(FGFR2):c.1085C>A (p.Ala362Glu)	FGFR2 (A247E +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 13265	NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys)	FGFR2 (S354C +3 more)	Single nucleotide variant (missense variant +2 more)	See cases +4 more	GPathogenic
Select item 520630	NM_000141.5(FGFR2):c.940-165_978del	FGFR2	Deletion (splice acceptor variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2271423	NM_000141.5(FGFR2):c.803C>T (p.Thr268Ile)	FGFR2 (T153I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 829801	NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu)	FGFR2 (P138L +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +2 more	GConflicting classifications of pathogenicity
Select item 2230393	NM_000141.5(FGFR2):c.562A>G (p.Thr188Ala)	FGFR2 (T73A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279125	NM_000141.5(FGFR2):c.554C>T (p.Pro185Leu)	FGFR2 (P185L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226118	NM_000141.5(FGFR2):c.532C>T (p.Arg178Cys)	FGFR2 (R89C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1431541	NM_000141.5(FGFR2):c.469A>G (p.Thr157Ala)	FGFR2 (T68A +2 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GUncertain significance
Select item 1803498	NM_000141.5(FGFR2):c.454+3A>G	FGFR2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 3278666	NM_000141.5(FGFR2):c.343A>G (p.Ser115Gly)	FGFR2 (S115G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1115796	NM_000141.5(FGFR2):c.263T>C (p.Ile88Thr)	FGFR2 (I88T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2208075	NM_000141.5(FGFR2):c.160C>T (p.Pro54Ser)	FGFR2 (P54S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1000813	NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys)	FGFR2 (R6C)	Single nucleotide variant (missense variant +1 more)	Acrocephalosyndactyly type I +12 more	GConflicting classifications of pathogenicity

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Items: 27