"GeneDx"[submitter] AND "FGFR2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 298988	NM_000141.5(FGFR2):c.*469G>A	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +5 more	GBenign
Select item 298989	NM_000141.5(FGFR2):c.*403A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +5 more	GBenign/Likely benign
Select item 298991	NM_000141.5(FGFR2):c.*259C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +2 more)	Craniosynostosis syndrome +6 more	GBenign
Select item 298992	NM_000141.5(FGFR2):c.*197del	FGFR2 (K682fs)	Deletion (3 prime UTR variant +2 more)	Craniosynostosis syndrome +9 more	GConflicting classifications of pathogenicity
Select item 298995	NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)	FGFR2 (E806K +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +6 more	GConflicting classifications of pathogenicity
Select item 298996	NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis +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 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 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 1187706	NM_000141.5(FGFR2):c.2302-219C>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1263215	NM_000141.5(FGFR2):c.2301+1418G>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 255317	NM_000141.5(FGFR2):c.2301+15C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +6 more	GBenign
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 720445	NM_000141.5(FGFR2):c.2232C>T (p.Pro744=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +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 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 1722843	NM_000141.5(FGFR2):c.2200A>T (p.Met734Leu)	FGFR2 (M506L +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1282228	NM_000141.5(FGFR2):c.2196-346dup	FGFR2	Duplication (intron variant)	not provided	GBenign
Select item 1246674	NM_000141.5(FGFR2):c.2196-350G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220738	NM_000141.5(FGFR2):c.2195+232G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222606	NM_000141.5(FGFR2):c.2195+75G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514067	NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +7 more	GConflicting classifications of pathogenicity
Select item 1317423	NM_000141.5(FGFR2):c.2189A>G (p.Asn730Ser)	FGFR2 (N502S +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GUncertain significance
Select item 1317030	NM_000141.5(FGFR2):c.2077A>G (p.Met693Val)	FGFR2 (M465V +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +11 more	GUncertain significance
Select item 668208	NM_000141.5(FGFR2):c.2058-10T>C	FGFR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 667900	NM_000141.5(FGFR2):c.2057+256C>T	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217512	NM_000141.5(FGFR2):c.2057+220A>T	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294293	NM_000141.5(FGFR2):c.2057+114_2057+135del	FGFR2	Deletion (intron variant)	not provided	GBenign
Select item 834843	NM_000141.5(FGFR2):c.2032A>G (p.Arg678Gly)	FGFR2 (R562G +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GPathogenic/Likely pathogenic
Select item 298997	NM_000141.5(FGFR2):c.2001C>G (p.Val667=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +7 more	GBenign/Likely benign
Select item 1221003	NM_000141.5(FGFR2):c.1987-99G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250609	NM_000141.5(FGFR2):c.1987-106A>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208622	NM_000141.5(FGFR2):c.1987-129T>C	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203812	NM_000141.5(FGFR2):c.1987-165T>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205524	NM_000141.5(FGFR2):c.1987-166A>C	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232317	NM_000141.5(FGFR2):c.1987-238G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383647	NM_000141.5(FGFR2):c.1986+7C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +13 more	GBenign/Likely benign
Select item 1698211	NM_000141.5(FGFR2):c.1977G>T (p.Lys659Asn)	FGFR2 (K431N +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GPathogenic
Select item 661397	NM_000141.5(FGFR2):c.1977G>C (p.Lys659Asn)	FGFR2 (K542N +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related condition +2 more	GPathogenic
Select item 13296	NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr)	FGFR2 (A648T +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +2 more	GPathogenic
Select item 255316	NM_000141.5(FGFR2):c.1941C>T (p.Leu647=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +7 more	GBenign
Select item 423420	NM_000141.5(FGFR2):c.1925T>A (p.Ile642Lys)	FGFR2 (I642K +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 374824	NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)	FGFR2 (K641R +9 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 703147	NM_000141.5(FGFR2):c.1911C>T (p.Asn637=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +13 more	GLikely benign
Select item 1329626	NM_000141.5(FGFR2):c.1891A>G (p.Asn631Asp)	FGFR2 (N403D +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 13298	NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr)	FGFR2 (A628T +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 255315	NM_000141.5(FGFR2):c.1864-17T>G	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +2 more	GBenign
Select item 873188	NM_000141.5(FGFR2):c.1864-43del	FGFR2	Deletion (intron variant)	not provided	GBenign
Select item 670714	NM_000141.5(FGFR2):c.1864-125dup	FGFR2	Duplication (intron variant)	not provided	GBenign
Select item 1193796	NM_000141.5(FGFR2):c.1863+246A>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208456	NM_000141.5(FGFR2):c.1863+199C>T	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579608	NM_000141.5(FGFR2):c.1808T>A (p.Leu603Ter)	FGFR2 (L375* +9 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 546064	NM_000141.5(FGFR2):c.1757_1758delinsGA (p.Tyr586Ter)	FGFR2 (Y358* +9 more)	Indel (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1318913	NM_000141.5(FGFR2):c.1721_1732del (p.Glu574_Arg577del)	FGFR2	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 1318740	NM_000141.5(FGFR2):c.1723T>C (p.Tyr575His)	FGFR2 (Y347H +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319052	NM_000141.5(FGFR2):c.1718G>A (p.Arg573Gln)	FGFR2 (R345Q +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706429	NM_000141.5(FGFR2):c.1699G>A (p.Ala567Thr)	FGFR2 (A339T +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GUncertain significance
Select item 374823	NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)	FGFR2 (E565G +9 more)	Single nucleotide variant (missense variant +1 more)	Acrocephalosyndactyly type I +12 more	GPathogenic/Likely pathogenic
Select item 13294	NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	FGFR2 (E565A +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 376155	NM_000141.5(FGFR2):c.1690G>A (p.Val564Ile)	FGFR2 (V564I +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 298999	NM_000141.5(FGFR2):c.1673-12C>T	FGFR2	Single nucleotide variant (intron variant)	Isolated coronal synostosis +6 more	GBenign/Likely benign
Select item 1178291	NM_000141.5(FGFR2):c.1673-171C>T	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219618	NM_000141.5(FGFR2):c.1673-273C>T	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195665	NM_000141.5(FGFR2):c.1672+336A>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187393	NM_000141.5(FGFR2):c.1672+181T>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2446487	NM_000141.5(FGFR2):c.1646A>C (p.Asn549Thr)	FGFR2 (N321T +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1700436	NM_000141.5(FGFR2):c.1637A>C (p.Asn546Thr)	FGFR2 (N318T +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 393138	NM_000141.5(FGFR2):c.1623T>G (p.Ile541Met)	FGFR2 (I541M +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 284342	NM_000141.5(FGFR2):c.1572A>G (p.Thr524=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +7 more	GBenign/Likely benign
Select item 1318925	NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA	FGFR2	Indel (intron variant)	not provided +11 more	GUncertain significance
Select item 1285863	NM_000141.5(FGFR2):c.1561+333G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187500	NM_000141.5(FGFR2):c.1561+179T>C	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186066	NM_000141.5(FGFR2):c.1561+72A>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 299001	NM_000141.5(FGFR2):c.1548G>A (p.Val516=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +6 more	GBenign/Likely benign
Select item 284354	NM_000141.5(FGFR2):c.1539C>T (p.Thr513=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 1181407	NM_000141.5(FGFR2):c.1448T>C (p.Leu483Pro)	FGFR2 (L255P +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 673069	NM_000141.5(FGFR2):c.1440-231C>T	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207926	NM_000141.5(FGFR2):c.1440-248C>T	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207256	NM_000141.5(FGFR2):c.1439+185dup	FGFR2	Duplication (intron variant)	not provided	GLikely benign
Select item 1193369	NM_000141.5(FGFR2):c.1439+174T>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190080	NM_000141.5(FGFR2):c.1439+165A>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219755	NM_000141.5(FGFR2):c.1439+95A>G	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316124	NM_000141.5(FGFR2):c.1382C>T (p.Ala461Val)	FGFR2 (A233V +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GUncertain significance
Select item 514601	NM_000141.5(FGFR2):c.1362G>A (p.Thr454=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +1 more	GLikely benign
Select item 1052478	NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys)	FGFR2 (R222C +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +12 more	GUncertain significance
Select item 1903593	NM_000141.5(FGFR2):c.1342A>G (p.Thr448Ala)	FGFR2 (T331A +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GUncertain significance
Select item 675995	NM_000141.5(FGFR2):c.1288-23G>C	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214954	NM_000141.5(FGFR2):c.1288-158G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671367	NM_000141.5(FGFR2):c.1288-161G>A	FGFR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 59729	GRCh38/hg38 10q26.13(chr10:121507745-121870082)x3	ATE1, FGFR2 +6 more	Copy number gain	See cases	GPathogenic

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