Related gene-specific medical variations for Gene (Select 2263) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064462	NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)	FGFR2 (L471S +9 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome	GLikely pathogenic
Select item 3064171	NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr)	FGFR2 (A200T +3 more)	Single nucleotide variant (missense variant +2 more)	Pfeiffer syndrome	GLikely benign
Select item 2672124	NM_000141.5(FGFR2):c.1864-9T>G	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related conditions	GUncertain significance
Select item 2664499	NM_000141.5:c.940-19_940-18insAlu	FGFR2	Insertion	Acrocephalosyndactyly type I	GLikely pathogenic
Select item 2428568	NM_000141.5(FGFR2):c.1349G>A (p.Arg450His)	FGFR2 (R222H +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701678	NM_000141.5(FGFR2):c.2194C>A (p.Leu732Met)	FGFR2 (L504M +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679479	NM_000141.5(FGFR2):c.1565A>T (p.Asp522Val)	FGFR2 (D294V +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1672748	NM_000141.5(FGFR2):c.109+12790G>A	FGFR2, LOC124416922	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 1663380	NM_000141.5(FGFR2):c.109+12912G>T	FGFR2, LOC124416922	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GBenign
Select item 1659826	NM_000141.5(FGFR2):c.109+13116T>C	FGFR2, LOC124416922	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GBenign
Select item 1659816	NM_000141.5(FGFR2):c.109+12791del	FGFR2, LOC124416922	Deletion (intron variant)	FGFR2-related craniosynostosis	GBenign
Select item 1598913	NM_000141.5(FGFR2):c.109+12912G>A	FGFR2, LOC124416922	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GBenign
Select item 1527610	GRCh37/hg19 10q26.13(chr10:123346115-123425406)	FGFR2	Copy number loss	not specified	GPathogenic
Select item 1342613	NM_000141.5(FGFR2):c.122A>G (p.Lys41Arg)	FGFR2 (K41R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1177145	t(10;19)(q26.13;q13.43)	FGFR2, ZNF135	Translocation	Glioblastoma	GUncertain significance
Select item 994367	NM_000141.5(FGFR2):c.344G>A (p.Ser115Asn)	FGFR2 (S115N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 993893	NM_000141.5(FGFR2):c.543C>G (p.Ala181=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 993605	NM_000141.5(FGFR2):c.2245A>G (p.Thr749Ala)	FGFR2 (T521A +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 931843	NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly)	FGFR2 (A638G +9 more)	Single nucleotide variant (missense variant +1 more)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	GUncertain significance
Select item 931219	NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln)	FGFR2 (E601Q +9 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	GUncertain significance
Select item 930214	t(10;16)(q26;q11)	FGFR2, VPS35	Translocation	Glioma	GLikely pathogenic
Select item 591392	NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp)	FGFR2 (R579W +9 more)	Single nucleotide variant (missense variant +1 more)	Crouzon syndrome +10 more	GUncertain significance
Select item 591363	NM_000141.5(FGFR2):c.560C>T (p.Pro187Leu)	FGFR2 (P187L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 562281	NM_000141.5(FGFR2):c.1717C>T (p.Arg573Ter)	FGFR2 (R573* +9 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 376750	NM_000141.5(FGFR2):c.1913A>C (p.Asn638Thr)	FGFR2 (N638T +9 more)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome	GLikely pathogenic
Select item 376727	NM_000141.5(FGFR2):c.1974A>T (p.Lys658Asn)	FGFR2 (K658N +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrium neoplasm	GLikely pathogenic
Select item 376726	NM_000141.5(FGFR2):c.1121A>G (p.Asp374Gly)	FGFR2 (D374G +6 more)	Single nucleotide variant (missense variant +2 more)	Endometrium neoplasm	GLikely pathogenic
Select item 376725	NM_000141.5(FGFR2):c.1972A>G (p.Lys658Glu)	FGFR2 (K658E +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrium neoplasm	GLikely pathogenic
Select item 376433	NM_000141.5(FGFR2):c.1642A>C (p.Ile548Leu)	FGFR2 (I548L +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrium neoplasm +4 more	GLikely pathogenic
Select item 376432	NM_000141.5(FGFR2):c.1145G>A (p.Cys382Tyr)	FGFR2 (C382Y +6 more)	Single nucleotide variant (missense variant +2 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376317	NM_000141.5(FGFR2):c.929A>G (p.Lys310Arg)	FGFR2 (K310R +3 more)	Single nucleotide variant (missense variant +2 more)	Endometrium neoplasm	GLikely pathogenic
Select item 376315	NM_000141.5(FGFR2):c.1914T>A (p.Asn638Lys)	FGFR2 (N638K +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrium neoplasm +4 more	GLikely pathogenic
Select item 376164	NM_000141.5(FGFR2):c.1605G>A (p.Met535Ile)	FGFR2 (M535I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376163	NM_000141.5(FGFR2):c.1605G>C (p.Met535Ile)	FGFR2 (M535I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376162	NM_000141.5(FGFR2):c.1605G>T (p.Met535Ile)	FGFR2 (M535I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376161	NM_000141.5(FGFR2):c.1611G>A (p.Met537Ile)	FGFR2 (M537I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376160	NM_000141.5(FGFR2):c.1611G>C (p.Met537Ile)	FGFR2 (M537I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376159	NM_000141.5(FGFR2):c.1611G>T (p.Met537Ile)	FGFR2 (M537I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376158	NM_000141.5(FGFR2):c.1639A>G (p.Ile547Val)	FGFR2 (I547V +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376157	NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys)	FGFR2 (N549K +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation +4 more	GLikely pathogenic
Select item 376156	NM_000141.5(FGFR2):c.1647T>G (p.Asn549Lys)	FGFR2 (N549K +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376154	NM_000141.5(FGFR2):c.1849T>A (p.Leu617Met)	FGFR2 (L617M +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376153	NM_000141.5(FGFR2):c.1975A>G (p.Lys659Glu)	FGFR2 (K659E +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376147	NM_022970.4(FGFR2):c.959C>G (p.Ser320Cys)	FGFR2 (S320C +1 more)	Single nucleotide variant (missense variant +2 more)	Squamous cell lung carcinoma	GLikely pathogenic
Select item 255320	NM_000141.5(FGFR2):c.831C>T (p.Val277=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 255318	NM_000141.5(FGFR2):c.309C>A (p.Gly103=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 255313	NM_000141.5(FGFR2):c.1011T>C (p.Ala337=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 134389	NM_000141.5(FGFR2):c.2301+1526A>G	FGFR2	Single nucleotide variant (stop lost +1 more)	not specified	Gnot provided
Select item 55867	NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe)	FGFR2 (P138F +3 more)	Indel (missense variant +2 more)	Acrocephalosyndactyly type I	GPathogenic
Select item 13287	NM_000141.5:c.1040_1041ins[N[360];1026_1040]	FGFR2	Insertion	Acrocephalosyndactyly type I	GPathogenic

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Items: 50