FGFR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 878309	NM_000141.4(FGFR2):c.*1539C>A	FGFR2	Single nucleotide variant	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 298974	NM_000141.5(FGFR2):c.1498_1502del	FGFR2	Deletion (3 prime UTR variant +1 more)	Acrocephalosyndactyly type I +8 more	GLikely benign
Select item 298975	NM_000141.5(FGFR2):c.*1489C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 298976	NM_000141.5(FGFR2):c.*1402T>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 298977	NM_000141.5(FGFR2):c.*1369C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Saethre-Chotzen syndrome +12 more	GUncertain significance
Select item 298978	NM_000141.5(FGFR2):c.*1319A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Crouzon syndrome +4 more	GBenign/Likely benign
Select item 298979	NM_000141.5(FGFR2):c.*1301C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GBenign/Likely benign
Select item 298980	NM_000141.5(FGFR2):c.*1287A>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 878944	NM_000141.5(FGFR2):c.*1283C>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 878945	NM_000141.5(FGFR2):c.*1240A>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 298981	NM_000141.5(FGFR2):c.*1126T>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 298982	NM_000141.5(FGFR2):c.*1070T>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 298983	NM_000141.5(FGFR2):c.*921G>A	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 878403	NM_000141.5(FGFR2):c.*874A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 298984	NM_000141.5(FGFR2):c.*736dup	FGFR2	Duplication (3 prime UTR variant +1 more)	Acrocephalosyndactyly type I +8 more	GUncertain significance
Select item 878994	NM_000141.5(FGFR2):c.*730G>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 298985	NM_000141.5(FGFR2):c.*674G>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +5 more	GConflicting classifications of pathogenicity
Select item 298986	NM_000141.5(FGFR2):c.641_644del	FGFR2	Deletion (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +8 more	GLikely benign
Select item 298987	NM_000141.5(FGFR2):c.*497T>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 298988	NM_000141.5(FGFR2):c.*469G>A	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GBenign
Select item 877435	NM_000141.5(FGFR2):c.*463A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated coronal synostosis +4 more	GUncertain significance
Select item 298989	NM_000141.5(FGFR2):c.*403A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated coronal synostosis +5 more	GBenign/Likely benign
Select item 298990	NM_000141.5(FGFR2):c.*324A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GBenign/Likely benign
Select item 3058285	NM_000141.5(FGFR2):c.*282A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	FGFR2-related disorder	GLikely benign
Select item 298991	NM_000141.5(FGFR2):c.*259C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +2 more)	Beare-Stevenson cutis gyrata syndrome +6 more	GBenign
Select item 880262	NM_000141.5(FGFR2):c.*256G>A	FGFR2 (V702I)	Single nucleotide variant (3 prime UTR variant +2 more)	Isolated coronal synostosis +5 more	GUncertain significance
Select item 3054639	NM_000141.5(FGFR2):c.*255C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +2 more)	FGFR2-related disorder	GLikely benign
Select item 298992	NM_000141.5(FGFR2):c.*197del	FGFR2 (K682fs)	Deletion (3 prime UTR variant +2 more)	Acrocephalosyndactyly type I +9 more	GConflicting classifications of pathogenicity
Select item 298993	NM_000141.5(FGFR2):c.*184C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +2 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GBenign/Likely benign
Select item 298994	NM_000141.5(FGFR2):c.*111G>A	FGFR2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1337798	NM_000141.5(FGFR2):c.*1A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1538969	NM_000141.5(FGFR2):c.2448C>T (p.Asn816=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 1062590	NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs)	FGFR2 (I587fs +8 more)	Deletion (frameshift variant +2 more)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 2849050	NM_000141.5(FGFR2):c.2431C>A (p.Gln811Lys)	FGFR2 (Q811K +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 1415015	NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro)	FGFR2 (L581P +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +11 more	GConflicting classifications of pathogenicity
Select item 1115603	NM_000141.5(FGFR2):c.2424C>T (p.Cys808=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 1054430	NM_000141.5(FGFR2):c.2424C>G (p.Cys808Trp)	FGFR2 (C580W +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 1970360	NM_000141.5(FGFR2):c.2421A>G (p.Pro807=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 298995	NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)	FGFR2 (E806K +8 more)	Single nucleotide variant (missense variant +2 more)	Saethre-Chotzen syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2631649	NM_000141.5(FGFR2):c.2415C>A (p.Tyr805Ter)	FGFR2 (Y577* +8 more)	Single nucleotide variant (nonsense +2 more)	FGFR2-related disorder	GUncertain significance
Select item 298996	NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Saethre-Chotzen syndrome +6 more	GBenign/Likely benign
Select item 1045256	NM_000141.5(FGFR2):c.2410C>T (p.Pro804Ser)	FGFR2 (P687S +8 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2066127	NM_000141.5(FGFR2):c.2399C>T (p.Pro800Leu)	FGFR2 (P572L +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2698801	NM_000141.5(FGFR2):c.2398C>T (p.Pro800Ser)	FGFR2 (P711S +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 1051971	NM_000141.5(FGFR2):c.2395dup (p.Ser799fs)	FGFR2 (S571fs +8 more)	Duplication (frameshift variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
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 1315789	NM_000141.5(FGFR2):c.2368T>C (p.Cys790Arg)	FGFR2 (C562R +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2917167	NM_000141.5(FGFR2):c.2350C>T (p.Pro784Ser)	FGFR2 (P667S +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2115186	NM_000141.5(FGFR2):c.2340A>G (p.Ser780=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 134391	NM_000141.5(FGFR2):c.2329G>A (p.Glu777Lys)	FGFR2 (E777K +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 1168728	NM_000141.5(FGFR2):c.2328C>T (p.Leu776=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1414370	NM_000141.5(FGFR2):c.2311G>A (p.Asp771Asn)	FGFR2 (D543N +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2868406	NM_000141.5(FGFR2):c.2302-15C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2026094	NM_000141.5(FGFR2):c.2302-17C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 1187706	NM_000141.5(FGFR2):c.2302-219C>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2640884	NM_000141.5(FGFR2):c.2302-895del	FGFR2	Deletion (intron variant)	not provided	GBenign
Select item 2640885	NM_000141.5(FGFR2):c.2302-1025T>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879147	NM_000141.5(FGFR2):c.2302-1589C>T	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2640886	NM_000141.5(FGFR2):c.2302-1734A>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2640887	NM_000141.5(FGFR2):c.2302-1807_2302-1806insAAAAAAA	FGFR2	Insertion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1701150	NM_000141.5(FGFR2):c.2302-1811_2302-1807dup	FGFR2	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1275991	NM_000141.5(FGFR2):c.2302-1819T>A	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1289123	NM_000141.5(FGFR2):c.2302-1820A>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1279390	NM_000141.5(FGFR2):c.2302-1826A>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 667903	NM_000141.5(FGFR2):c.2302-1838G>A	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 670716	NM_000141.5(FGFR2):c.2301+1829G>A	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1281127	NM_000141.5(FGFR2):c.2301+1823G>A	FGFR2	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2640888	NM_000141.5(FGFR2):c.2301+1756G>A	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 667902	NM_000141.5(FGFR2):c.2301+1716A>G	FGFR2	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1235867	NM_000141.5(FGFR2):c.2301+1596C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 3047978	NM_000141.5(FGFR2):c.2301+1512dup	FGFR2	Duplication (intron variant)	FGFR2-related disorder	GLikely benign
Select item 1263215	NM_000141.5(FGFR2):c.2301+1418G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640889	NM_000141.5(FGFR2):c.2301+1405G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640890	NM_000141.5(FGFR2):c.2301+1319C>T	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1711267	NM_000141.5(FGFR2):c.2301+1196G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667901	NM_000141.5(FGFR2):c.2301+1186A>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640891	NM_000141.5(FGFR2):c.2301+494C>T	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255317	NM_000141.5(FGFR2):c.2301+15C>T	FGFR2	Single nucleotide variant (intron variant)	Craniosynostosis syndrome +6 more	GBenign
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 513800	NM_000141.5(FGFR2):c.2283C>T (p.Leu761=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712352	NM_000141.5(FGFR2):c.2256G>A (p.Gln752=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2728040	NM_000141.5(FGFR2):c.2251A>C (p.Lys751Gln)	FGFR2 (K634Q +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 762985	NM_000141.5(FGFR2):c.2247G>A (p.Thr749=)	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 720445	NM_000141.5(FGFR2):c.2232C>T (p.Pro744=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +12 more	GBenign/Likely benign
Select item 1380817	NM_000141.5(FGFR2):c.2230C>T (p.Pro744Ser)	FGFR2 (P516S +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GUncertain significance
Select item 2148608	NM_000141.5(FGFR2):c.2223T>C (p.His741=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 1710624	NM_000141.5(FGFR2):c.2210G>C (p.Arg737Thr)	FGFR2 (R509T +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897848	NM_000141.5(FGFR2):c.2205G>A (p.Met735Ile)	FGFR2 (M733I +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	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

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