ClinVar for Gene (Select 2260) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368981	NM_023110.3(FGFR1):c.2098C>T (p.Pro700Ser)	FGFR1 (P607S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368676	NM_023110.3(FGFR1):c.359A>T (p.Asp120Val)	FGFR1 (D112V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368233	NM_023110.3(FGFR1):c.212T>C (p.Val71Ala)	FGFR1 (V104A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365854	NM_023110.3(FGFR1):c.2124A>C (p.Glu708Asp)	FGFR1 (E615D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365626	NM_023110.3(FGFR1):c.1187T>C (p.Val396Ala)	FGFR1 (V305A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365092	NM_023110.3(FGFR1):c.2279T>G (p.Leu760Trp)	FGFR1 (L667W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363792	NM_023110.3(FGFR1):c.1757A>G (p.Asn586Ser)	FGFR1 (N493S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363392	NM_023110.3(FGFR1):c.409G>C (p.Glu137Gln)	FGFR1 (E129Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363227	NM_023110.3(FGFR1):c.2176A>G (p.Thr726Ala)	FGFR1 (T633A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3353589	NM_023110.3(FGFR1):c.927G>A (p.Gln309=)	FGFR1	Single nucleotide variant (synonymous variant)	FGFR1-related disorder	GLikely benign
Select item 3348925	NM_023110.3(FGFR1):c.1816C>T (p.Gln606Ter)	FGFR1 (Q513* +7 more)	Single nucleotide variant (nonsense)	FGFR1-related disorder	GLikely pathogenic
Select item 3348747	NM_023110.3(FGFR1):c.1321G>T (p.Val441Phe)	FGFR1 (V348F +7 more)	Single nucleotide variant (missense variant)	FGFR1-related disorder	GUncertain significance
Select item 3347162	NM_023110.3(FGFR1):c.1569_1572del (p.Lys523fs)	FGFR1 (K430fs +7 more)	Deletion (frameshift variant)	FGFR1-related disorder	GPathogenic
Select item 3346857	NM_023110.3(FGFR1):c.1264C>T (p.Pro422Ser)	FGFR1 (P331S +5 more)	Single nucleotide variant (missense variant)	FGFR1-related disorder	GUncertain significance
Select item 3343963	NM_023110.3(FGFR1):c.2104C>A (p.Pro702Thr)	FGFR1 (P609T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342722	NM_023110.3(FGFR1):c.995C>T (p.Ser332Phe)	FGFR1 (S241F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340451	NM_023110.3(FGFR1):c.995C>G (p.Ser332Cys)	FGFR1 (S241C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339525	NM_023110.3(FGFR1):c.-88-19G>T	FGFR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3338853	NM_023110.3(FGFR1):c.416A>G (p.Lys139Arg)	FGFR1 (K131R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337762	NM_023110.3(FGFR1):c.1203_1204dup (p.Gly402fs)	FGFR1 (G311fs +5 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3337107	NM_023110.3(FGFR1):c.401C>G (p.Ser134Cys)	FGFR1 (S126C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337106	NM_023110.3(FGFR1):c.448+5G>C	FGFR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3257028	NM_023110.3(FGFR1):c.2201G>A (p.Arg734Gln)	FGFR1 (R641Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3253559	NM_023110.3(FGFR1):c.2166del (p.Ser723fs)	FGFR1 (S630fs +7 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 3239265	NM_023110.3(FGFR1):c.-89+683G>A	FGFR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3234159	NM_023110.3(FGFR1):c.1029G>A (p.Ala343=)	FGFR1	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 3234134	NM_023110.3(FGFR1):c.-89+1264C>T	FGFR1, LOC130000231	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3234036	NM_023110.3(FGFR1):c.449-1G>A	FGFR1	Single nucleotide variant (splice acceptor variant)	Pfeiffer syndrome	GLikely pathogenic
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 3094797	NM_023110.3(FGFR1):c.1393C>T (p.Leu465Phe)	FGFR1 (L372F +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068764	NM_023110.3(FGFR1):c.1285-3C>T	FGFR1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061228	NM_023110.3(FGFR1):c.824T>A (p.Phe275Tyr)	FGFR1 (F184Y +5 more)	Single nucleotide variant (missense variant)	FGFR1-related disorder	GUncertain significance
Select item 3057642	NM_023110.3(FGFR1):c.-21A>G	FGFR1 (T27A)	Single nucleotide variant (5 prime UTR variant +1 more)	FGFR1-related disorder	GLikely benign
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 3052851	NM_023110.3(FGFR1):c.1497G>A (p.Gly499=)	FGFR1	Single nucleotide variant (synonymous variant)	FGFR1-related disorder	GLikely benign
Select item 3044813	NM_023110.3(FGFR1):c.2037C>T (p.His679=)	FGFR1	Single nucleotide variant (synonymous variant)	FGFR1-related disorder	GLikely benign
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 3032579	NM_023110.3(FGFR1):c.1614C>T (p.Ile538=)	FGFR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3030346	NM_023110.3(FGFR1):c.996C>T (p.Ser332=)	FGFR1	Single nucleotide variant (synonymous variant)	FGFR1-related disorder	GLikely benign
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 3027170	NM_023110.3(FGFR1):c.2328C>T (p.Tyr776=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026077	NM_023110.3(FGFR1):c.-88-3884_-88-3882del	FGFR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2954562	NM_023110.3(FGFR1):c.42C>T (p.Val14=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 2954522	NM_023110.3(FGFR1):c.745+1G>T	FGFR1	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely pathogenic
Select item 2954310	NM_023110.3(FGFR1):c.1978-17C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2954023	NM_023110.3(FGFR1):c.2163G>A (p.Lys721=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2953971	NM_023110.3(FGFR1):c.622-9del	FGFR1	Deletion (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2953541	NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)	FGFR1 (R417K +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2953540	NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)	FGFR1 (K480fs +7 more)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GPathogenic
Select item 2953124	NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)	FGFR1 (V219E +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2953080	NM_023110.3(FGFR1):c.1931T>G (p.Leu644Arg)	FGFR1 (L555R +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2953016	NM_023110.3(FGFR1):c.1081+9T>C	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2952541	NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)	FGFR1 (C170G +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely pathogenic
Select item 2952412	NM_023110.3(FGFR1):c.937-17T>C	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2952329	NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu)	FGFR1 (P652L +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely pathogenic
Select item 2951686	NM_023110.3(FGFR1):c.1854+7A>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2951450	NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)	FGFR1 (D125E +3 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
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
Select item 2950200	NM_023110.3(FGFR1):c.1285-8C>G	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2950138	NM_023110.3(FGFR1):c.1081+1G>A	FGFR1	Single nucleotide variant (splice donor variant)	Pfeiffer syndrome +1 more	GLikely pathogenic
Select item 2949952	NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)	FGFR1 (L90fs +2 more)	Duplication (frameshift variant +1 more)	Pfeiffer syndrome +1 more	GPathogenic
Select item 2949813	NM_023110.3(FGFR1):c.27C>T (p.Phe9=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2949811	NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)	FGFR1 (F186V +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2949673	NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)	FGFR1 (G606R +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2949531	NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)	FGFR1 (T104S +2 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2949499	NM_023110.3(FGFR1):c.1948del (p.His650fs)	FGFR1 (H557fs +7 more)	Deletion (frameshift variant)	Pfeiffer syndrome +1 more	GPathogenic
Select item 2949496	NM_023110.3(FGFR1):c.1946del (p.His649fs)	FGFR1 (H556fs +7 more)	Deletion (frameshift variant)	Pfeiffer syndrome +1 more	GPathogenic
Select item 2949104	NM_023110.3(FGFR1):c.262G>T (p.Val88Leu)	FGFR1 (V121L +2 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2948865	NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)	FGFR1 (R620fs +7 more)	Duplication (frameshift variant)	Pfeiffer syndrome +1 more	GPathogenic
Select item 2948747	NM_023110.3(FGFR1):c.2187-4G>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2948731	NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)	FGFR1 (P139S +2 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2948116	NM_023110.3(FGFR1):c.1285-20G>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2948022	NM_023110.3(FGFR1):c.1855-2A>G	FGFR1	Single nucleotide variant (splice acceptor variant)	Pfeiffer syndrome +1 more	GLikely pathogenic
Select item 2947806	NM_023110.3(FGFR1):c.1855-5C>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2947544	NM_023110.3(FGFR1):c.449-4dup	FGFR1	Duplication (intron variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2947520	NM_023110.3(FGFR1):c.33T>C (p.Ala11=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2946420	NM_023110.3(FGFR1):c.1977+19G>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2945761	NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)	FGFR1 (K206E +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2945458	NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)	FGFR1 (R799* +7 more)	Single nucleotide variant (nonsense +1 more)	Pfeiffer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2945425	NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)	FGFR1 (R55G +1 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2945040	NM_023110.3(FGFR1):c.359-5C>G	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2944899	NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)	FGFR1 (V251L +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2944795	NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)	FGFR1 (D675N +7 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2944628	NM_023110.3(FGFR1):c.621+14C>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign

<< First< Prev

Page of 10