FGFR1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 362882	NM_023110.3(FGFR1):c.*569C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 362883	NM_023110.3(FGFR1):c.*494A>G	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 908881	NM_023110.3(FGFR1):c.*391C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908882	NM_023110.3(FGFR1):c.*345T>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362885	NM_023110.3(FGFR1):c.*313T>C	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362884	NM_023110.3(FGFR1):c.*313T>G	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910659	NM_023110.3(FGFR1):c.*262C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910660	NM_023110.3(FGFR1):c.*252G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 911892	NM_023110.3(FGFR1):c.*231C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 2658545	NM_023110.3(FGFR1):c.*220T>C	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 908948	NM_023110.3(FGFR1):c.*212G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
Select item 908949	NM_023110.3(FGFR1):c.*203G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GUncertain significance
Select item 362886	NM_023110.3(FGFR1):c.*118C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362887	NM_023110.3(FGFR1):c.*113G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GBenign
Select item 909809	NM_023110.3(FGFR1):c.*112C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +7 more	GUncertain significance
Select item 362888	NM_023110.3(FGFR1):c.*71A>G	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362889	NM_023110.3(FGFR1):c.*70C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 1231552	NM_023110.3(FGFR1):c.*66G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 362890	NM_023110.3(FGFR1):c.*14G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 362891	NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)	FGFR1 (R822H +6 more)	Single nucleotide variant (missense variant +1 more)	Osteoglophonic dysplasia +8 more	GUncertain significance
Select item 2111285	NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)	FGFR1 (R853S +7 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 536195	NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys)	FGFR1 (R822C +6 more)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 1 +6 more	GConflicting classifications of pathogenicity
Select item 2139031	NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)	FGFR1 (R817C +7 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 691317	NM_023110.3(FGFR1):c.2460dup (p.Arg821fs)	FGFR1 (R732fs +6 more)	Duplication (frameshift variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 2428879	NM_023110.3(FGFR1):c.2460del (p.Lys820fs)	FGFR1 (K727fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1338761	NM_023110.3(FGFR1):c.1285-527_2455dup	FGFR1	Duplication (splice acceptor variant +1 more)	spinal cord mass	Gother
Select item 2499423	NM_023110.3(FGFR1):c.2455C>T (p.Leu819Phe)	FGFR1 (L726F +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1405061	NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg)	FGFR1 (G727R +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 909011	NM_023110.3(FGFR1):c.2451C>T (p.Gly817=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Trigonocephaly 1 +4 more	GConflicting classifications of pathogenicity
Select item 1401450	NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser)	FGFR1 (N814S +6 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 1616874	NM_023110.3(FGFR1):c.2433A>T (p.Pro811=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2935892	NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)	FGFR1 (P809R +7 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2922958	NM_023110.3(FGFR1):c.2430C>T (p.His810=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 1302903	NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr)	FGFR1 (H717Y +6 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 946143	NM_023110.3(FGFR1):c.2428C>A (p.His810Asn)	FGFR1 (H719N +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 1304409	NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln)	FGFR1 (R716Q +6 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 2945458	NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)	FGFR1 (R799* +7 more)	Single nucleotide variant (nonsense +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 698372	NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +6 more	GBenign/Likely benign
Select item 3255136	NM_023110.3(FGFR1):c.2423C>G (p.Pro808Arg)	FGFR1 (P715R +7 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GUncertain significance
Select item 1700534	NM_023110.3(FGFR1):c.2414C>A (p.Pro805His)	FGFR1 (P712H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2926752	NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)	FGFR1 (E714K +7 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 1456608	NM_023110.3(FGFR1):c.2406C>T (p.Pro802=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 1560253	NM_023110.3(FGFR1):c.2400G>A (p.Pro800=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 909875	NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)	FGFR1 (P707L +6 more)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 1 +4 more	GConflicting classifications of pathogenicity
Select item 2127050	NM_023110.3(FGFR1):c.2394_2395del (p.His798fs)	FGFR1 (H705fs +6 more)	Deletion (frameshift variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2682619	NM_023110.3(FGFR1):c.2393A>G (p.His798Arg)	FGFR1 (H705R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1488076	NM_023110.3(FGFR1):c.2393A>C (p.His798Pro)	FGFR1 (H705P +6 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2662870	NM_023110.3(FGFR1):c.2391_2392del (p.Ser797_His798insTer)	FGFR1	Microsatellite (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2582153	NM_023110.3(FGFR1):c.2392C>G (p.His798Asp)	FGFR1 (H705D +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314855	NM_023110.3(FGFR1):c.2390C>T (p.Ser797Phe)	FGFR1 (S704F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2262337	NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)	FGFR1 (V791I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2928594	NM_023110.3(FGFR1):c.2382C>T (p.Ser794=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2576980	NM_023110.3(FGFR1):c.1179_2378dup (p.Val429_Asn763delinsGluSerArgTrpGlyIleCysThrLeuSerThrThrSerLeuSerGlyProLeuMetProCysProLeuHisCysProTer)	FGFR1	Duplication (nonsense +3 more)	Astrocytoma	GUncertain significance
Select item 1347067	NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)	FGFR1 (E782fs +6 more)	Deletion (frameshift variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GUncertain significance
Select item 1995926	NM_023110.3(FGFR1):c.2370A>G (p.Ser790=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 1309587	NM_023110.3(FGFR1):c.2368T>C (p.Ser790Pro)	FGFR1 (S697P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2942768	NM_023110.3(FGFR1):c.2367C>T (p.Ser789=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 697534	NM_023110.3(FGFR1):c.2361G>A (p.Thr787=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Trigonocephaly 1 +5 more	GBenign/Likely benign
Select item 2582208	NM_023110.3(FGFR1):c.2359A>G (p.Thr787Ala)	FGFR1 (T694A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2940947	NM_023110.3(FGFR1):c.2356T>G (p.Ser786Ala)	FGFR1 (S776A +7 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 1216864	NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln)	FGFR1 (R691Q +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 1036826	NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)	FGFR1 (R691W +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 2933485	NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)	FGFR1 (T690I +7 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +2 more	GUncertain significance
Select item 3057253	NM_023110.3(FGFR1):c.2346C>T (p.Asp782=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	FGFR1-related disorder	GLikely benign
Select item 1963647	NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)	FGFR1 (D691N +7 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 3027171	NM_023110.3(FGFR1):c.2334del (p.Ser779fs)	FGFR1 (S686fs +7 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 390879	NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Encephalocraniocutaneous lipomatosis +7 more	GLikely benign
Select item 3027170	NM_023110.3(FGFR1):c.2328C>T (p.Tyr776=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3254769	NM_023110.3(FGFR1):c.2327del (p.Tyr776fs)	FGFR1 (Y683fs +7 more)	Deletion (frameshift variant +1 more)	Jackson-Weiss syndrome	GUncertain significance
Select item 1312041	NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)	FGFR1 (Q682E +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GUncertain significance
Select item 1804555	NM_023110.3(FGFR1):c.2314C>A (p.Pro772Thr)	FGFR1 (P679T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 194891	NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)	FGFR1 (P772S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 3094798	NM_023110.3(FGFR1):c.2311A>C (p.Met771Leu)	FGFR1 (M771L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2571312	NM_023110.3(FGFR1):c.2305C>T (p.Leu769=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2944795	NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)	FGFR1 (D675N +7 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 1303078	NM_023110.3(FGFR1):c.2302G>C (p.Asp768His)	FGFR1 (D675H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 16302	NM_023110.3(FGFR1):c.2302G>T (p.Asp768Tyr)	FGFR1 (D768Y +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GUncertain significance
Select item 696666	NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +8 more	GLikely benign
Select item 2505407	NM_023110.3(FGFR1):c.2293-1G>T	FGFR1	Single nucleotide variant (splice acceptor variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 1248746	NM_023110.3(FGFR1):c.2293-6T>C	FGFR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362892	NM_023110.3(FGFR1):c.2293-11G>A	FGFR1	Single nucleotide variant (intron variant)	Trigonocephaly 1 +4 more	GConflicting classifications of pathogenicity
Select item 2198744	NM_023110.3(FGFR1):c.2293-12C>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2048045	NM_023110.3(FGFR1):c.2293-12C>G	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 1676100	NM_023110.3(FGFR1):c.2292+36G>A	FGFR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2934506	NM_023110.3(FGFR1):c.2292+13G>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2161714	NM_023110.3(FGFR1):c.2292+12C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 1550083	NM_023110.3(FGFR1):c.2292+9G>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 838427	NM_023110.3(FGFR1):c.2292+6G>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 536193	NM_023110.3(FGFR1):c.2292+3A>G	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 16301	NM_023110.3(FGFR1):c.2292G>T (p.Gln764His)	FGFR1 (Q764H +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 391205	NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)	FGFR1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 911988	NM_023110.3(FGFR1):c.2272G>A (p.Val758Met)	FGFR1 (V758M +7 more)	Single nucleotide variant (missense variant)	Trigonocephaly 1 +5 more	GUncertain significance
Select item 1623251	NM_023110.3(FGFR1):c.2271C>T (p.Ile757=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GLikely benign
Select item 1416171	NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)	FGFR1 (R663H +7 more)	Single nucleotide variant (missense variant)	Trigonocephaly 1 +6 more	GUncertain significance
Select item 1188551	NM_023110.3(FGFR1):c.2267G>T (p.Arg756Leu)	FGFR1 (R663L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079731	NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)	FGFR1 (R667C +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2505458	NM_023110.3(FGFR1):c.2263G>C (p.Asp755His)	FGFR1 (D662H +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GUncertain significance
Select item 362893	NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)	FGFR1	Single nucleotide variant (synonymous variant)	Osteoglophonic dysplasia +8 more	GBenign
Select item 2937120	NM_023110.3(FGFR1):c.2259C>T (p.Asp753=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2950667	NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)	FGFR1 (V747L +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance

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