Related gene-specific medical variations for Gene (Select 2260) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361666	NM_023110.3(FGFR1):c.954C>T (p.Thr318=)	FGFR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3361442	NM_023110.3(FGFR1):c.359A>G (p.Asp120Gly)	FGFR1 (D112G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360572	NM_023110.3(FGFR1):c.785C>T (p.Pro262Leu)	FGFR1 (P171L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355700	NM_023110.3(FGFR1):c.*1045G>A	FGFR1, LOC102723716 (D678N +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	FGFR1-related disorder	GUncertain significance
Select item 3355144	NM_023110.3(FGFR1):c.*1091G>A	FGFR1, LOC102723716 (R693K +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	FGFR1-related disorder	GUncertain significance
Select item 3245513	NC_000008.10:g.(?_38275830)_(38277082_?)del	FGFR1	Deletion	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3245512	NC_000008.10:g.(?_38314854)_(38314964_?)dup	FGFR1	Duplication	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3234134	NM_023110.3(FGFR1):c.-89+1264C>T	FGFR1, LOC130000231	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3064126	NM_023110.3(FGFR1):c.1988C>G (p.Pro663Arg)	FGFR1 (P570R +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 3036215	NM_023110.3(FGFR1):c.1048_1055del	FGFR1, LOC102723716 (L679fs +2 more)	Deletion (non-coding transcript variant +2 more)	FGFR1-related disorder	GUncertain significance
Select item 2672236	NM_023110.3(FGFR1):c.2193G>A (p.Met731Ile)	FGFR1 (M638I +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome type 1	GUncertain significance
Select item 2658544	NM_023110.3(FGFR1):c.*1046A>G	FGFR1, LOC102723716 (D678G +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2637945	NM_023110.3(FGFR1):c.1663+2T>G	FGFR1	Single nucleotide variant (splice donor variant)	Hartsfield-Bixler-Demyer syndrome	GUncertain significance
Select item 2633404	NM_023110.3(FGFR1):c.*1069C>T	FGFR1, LOC102723716 (L686F +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	FGFR1-related disorder	GUncertain significance
Select item 2576980	NM_023110.3(FGFR1):c.1179_2378dup (p.Val429_Asn763delinsGluSerArgTrpGlyIleCysThrLeuSerThrThrSerLeuSerGlyProLeuMetProCysProLeuHisCysProTer)	FGFR1	Duplication (nonsense +3 more)	Astrocytoma	GUncertain significance
Select item 2498226	NM_023110.3(FGFR1):c.*1111C>T	FGFR1, LOC102723716 (R700* +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 2441425	NM_023110.3(FGFR1):c.1163C>T (p.Ser388Phe)	FGFR1 (S297F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441424	NM_023110.3(FGFR1):c.1825C>A (p.Arg609=)	FGFR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2441423	NM_023110.3(FGFR1):c.97C>A (p.Pro33Thr)	FGFR1 (P25T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441422	NM_023110.3(FGFR1):c.2243A>G (p.Lys748Arg)	FGFR1 (K655R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807110	NM_023110.3(FGFR1):c.1285-3C>A	FGFR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1344750	NM_023110.3(FGFR1):c.779G>A (p.Gly260Glu)	FGFR1 (G169E +5 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1319288	NM_023110.3(FGFR1):c.369CTC[1] (p.Ser125del)	FGFR1 (S117del +3 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 974818	NM_023110.3(FGFR1):c.208G>A (p.Gly70Arg)	FGFR1 (G103R +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 974817	NM_023110.3(FGFR1):c.211G>A (p.Val71Met)	FGFR1 (V104M +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 974814	NM_023110.3(FGFR1):c.887A>G (p.Asn296Ser)	FGFR1 (N205S +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 974813	NM_023110.3(FGFR1):c.1043G>A (p.Gly348Glu)	FGFR1 (G257E +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 974812	NM_023110.3(FGFR1):c.1430+1G>T	FGFR1	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 974811	NM_023110.3(FGFR1):c.1823C>A (p.Ala608Asp)	FGFR1 (A515D +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 931981	NM_023110.3(FGFR1):c.1671del (p.Leu557fs)	FGFR1 (L555fs +7 more)	Deletion (frameshift variant)	Encephalocraniocutaneous lipomatosis	GPathogenic
Select item 911789	NM_023110.3(FGFR1):c.*928G>A	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911717	NM_023110.3(FGFR1):c.*1055C>T	FGFR1, LOC102723716 (T770M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911588	NM_023110.3(FGFR1):c.*1723C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 911063	NM_023110.3(FGFR1):c.-117C>G	FGFR1, LOC130000232	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911062	NM_023110.3(FGFR1):c.-116C>T	FGFR1, LOC130000232	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910547	NM_023110.3(FGFR1):c.*957C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910486	NM_023110.3(FGFR1):c.*1086A>T	FGFR1, LOC102723716 (K691N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910485	NM_023110.3(FGFR1):c.*1124C>G	FGFR1, LOC102723716 (P704R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910427	NM_023110.3(FGFR1):c.*1446A>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GUncertain significance
Select item 910248	NM_023110.3(FGFR1):c.-278C>A	FGFR1, LOC130000233	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 909679	NM_023110.3(FGFR1):c.*802C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909678	NM_023110.3(FGFR1):c.*819T>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909616	NM_023110.3(FGFR1):c.*991G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GUncertain significance
Select item 909558	NM_023110.3(FGFR1):c.*1149G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909426	NM_023110.3(FGFR1):c.*1823G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909349	NM_023110.3(FGFR1):c.*2408C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908760	NM_023110.3(FGFR1):c.*994T>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +4 more	GBenign
Select item 908639	NM_023110.3(FGFR1):c.*1676G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908638	NM_023110.3(FGFR1):c.*1711G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908569	NM_023110.3(FGFR1):c.*1982A>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 908500	NM_023110.3(FGFR1):c.*2445A>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908295	NM_023110.3(FGFR1):c.-263G>C	FGFR1, LOC130000233	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908294	NM_023110.3(FGFR1):c.-209G>C	FGFR1, LOC130000233	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GBenign/Likely benign
Select item 804803	NM_023110.3(FGFR1):c.1934C>T (p.Ala645Val)	FGFR1 (A645V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691593	t(8;22)(p11;q11)	BCR, FGFR1	Translocation	Myeloid neoplasm associated with FGFR1 rearrangement	GPathogenic
Select item 591136	NM_023110.3(FGFR1):c.1671G>T (p.Leu557Phe)	FGFR1 (L557F +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548669	NM_023110.3(FGFR1):c.6G>A (p.Trp2Ter)	FGFR1 (W2* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 445368	NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln)	FGFR1 (R475Q +7 more)	Single nucleotide variant (missense variant)	Osteoglophonic dysplasia +7 more	GUncertain significance
Select item 376430	NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)	FGFR1 (M515V +7 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +4 more	GLikely pathogenic
Select item 376429	NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp)	FGFR1 (N546D +7 more)	Single nucleotide variant (missense variant)	Astrocytoma +4 more	GLikely pathogenic
Select item 376428	NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn)	FGFR1 (K656N +7 more)	Single nucleotide variant (missense variant)	Lymphoblastic leukemia, acute, with lymphomatous features +5 more	GLikely pathogenic
Select item 376296	NM_023110.3(FGFR1):c.754C>A (p.Pro252Thr)	FGFR1 (P252T +5 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 362913	NM_023110.3(FGFR1):c.-270G>A	FGFR1, LOC130000233	Single nucleotide variant (5 prime UTR variant)	Osteoglophonic dysplasia +3 more	GUncertain significance
Select item 362912	NM_023110.3(FGFR1):c.-124G>A	FGFR1, LOC130000232	Single nucleotide variant (5 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign
Select item 362881	NM_023110.3(FGFR1):c.*723G>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GBenign
Select item 362880	NM_023110.3(FGFR1):c.*762A>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362879	NM_023110.3(FGFR1):c.*845T>C	FGFR1, LOC102723716	Single nucleotide variant (intron variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362878	NM_023110.3(FGFR1):c.*906A>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +4 more	GBenign/Likely benign
Select item 362877	NM_023110.3(FGFR1):c.*913G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362876	NM_023110.3(FGFR1):c.*958G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GUncertain significance
Select item 362875	NM_023110.3(FGFR1):c.*963C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GBenign
Select item 362874	NM_023110.3(FGFR1):c.*1026T>C	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +4 more	GConflicting classifications of pathogenicity
Select item 362873	NM_023110.3(FGFR1):c.*1052C>T	FGFR1, LOC102723716 (T767M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +4 more	GBenign/Likely benign
Select item 362872	NM_023110.3(FGFR1):c.*1144G>A	LOC102723716, FGFR1 (A711T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362871	NM_023110.3(FGFR1):c.*1211G>T	FGFR1, LOC102723716 (G822V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 362870	NM_023110.3(FGFR1):c.*1218T>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362869	NM_023110.3(FGFR1):c.*1286C>T	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
Select item 362868	NM_023110.3(FGFR1):c.*1439T>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign/Likely benign
Select item 362867	NM_023110.3(FGFR1):c.*1498C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign
Select item 362866	NM_023110.3(FGFR1):c.*1560C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 362865	NM_023110.3(FGFR1):c.*1616T>G	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362864	NM_023110.3(FGFR1):c.*1632A>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GBenign
Select item 362863	NM_023110.3(FGFR1):c.*1770G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign
Select item 362862	NM_023110.3(FGFR1):c.*1822A>C	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GLikely benign
Select item 362861	NM_023110.3(FGFR1):c.*1965G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362860	NM_023110.3(FGFR1):c.*2057C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GUncertain significance
Select item 362859	NM_023110.3(FGFR1):c.*2099T>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign
Select item 362858	NM_023110.3(FGFR1):c.*2104del	FGFR1, LOC102723716	Deletion (3 prime UTR variant)	Interfrontal craniofaciosynostosis +4 more	GLikely benign
Select item 362857	NM_023110.3(FGFR1):c.*2188T>C	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 362856	NM_023110.3(FGFR1):c.*2391A>G	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GUncertain significance
Select item 362855	NM_023110.3(FGFR1):c.*2407C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 362854	NM_023110.3(FGFR1):c.*2434C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign

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Items: 92