FGFR3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 680176	NM_000142.5(FGFR3):c.-103+129C>A	FGFR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251273	NM_000142.5(FGFR3):c.-103+141C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187970	NM_000142.5(FGFR3):c.-102-181G>A	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229898	NM_000142.5(FGFR3):c.-102-18_-102-11del	FGFR3	Deletion (intron variant)	not provided	GBenign
Select item 390394	NM_000142.5(FGFR3):c.-102-9C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379389	NM_000142.5(FGFR3):c.-102-3T>C	FGFR3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1679975	NM_000142.5(FGFR3):c.3G>A (p.Met1Ile)	FGFR3 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 591014	NM_000142.5(FGFR3):c.3G>T (p.Met1Ile)	FGFR3 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2185977	NM_000142.5(FGFR3):c.6C>T (p.Gly2=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2602532	NM_000142.5(FGFR3):c.7G>A (p.Ala3Thr)	FGFR3 (A3T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2083082	NM_000142.5(FGFR3):c.13G>C (p.Ala5Pro)	FGFR3 (A5P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2907936	NM_000142.5(FGFR3):c.14C>T (p.Ala5Val)	FGFR3 (A5V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679976	NM_000142.5(FGFR3):c.15C>A (p.Ala5=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2115841	NM_000142.5(FGFR3):c.17G>A (p.Cys6Tyr)	FGFR3 (C6Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 514090	NM_000142.5(FGFR3):c.21C>T (p.Ala7=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1679977	NM_000142.5(FGFR3):c.28C>T (p.Leu10Phe)	FGFR3 (L10F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679978	NM_000142.5(FGFR3):c.30C>T (p.Leu10=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2130757	NM_000142.5(FGFR3):c.39C>G (p.Ala13=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2118965	NM_000142.5(FGFR3):c.40G>A (p.Val14Met)	FGFR3 (V14M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305219	NM_000142.5(FGFR3):c.43G>A (p.Ala15Thr)	FGFR3 (A15T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1197738	NM_000142.5(FGFR3):c.43G>T (p.Ala15Ser)	FGFR3 (A15S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2802675	NM_000142.5(FGFR3):c.51_59del (p.Ala18_Ala20del)	FGFR3	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2913016	NM_000142.5(FGFR3):c.52G>A (p.Ala18Thr)	FGFR3 (A18T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 134394	NM_000142.5(FGFR3):c.62C>A (p.Ser21Tyr)	FGFR3 (S21Y)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 2886903	NM_000142.5(FGFR3):c.66G>C (p.Ser22=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1679979	NM_000142.5(FGFR3):c.67G>C (p.Glu23Gln)	FGFR3 (E23Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679980	NM_000142.5(FGFR3):c.69G>A (p.Glu23=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1679981	NM_000142.5(FGFR3):c.72C>T (p.Ser24=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 995688	NM_000142.5(FGFR3):c.75G>A (p.Leu25=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related condition +1 more	GLikely benign
Select item 465357	NM_000142.5(FGFR3):c.77G>A (p.Gly26Glu)	FGFR3 (G26E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672985	NM_000142.5(FGFR3):c.82G>A (p.Glu28Lys)	FGFR3 (E28K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2153419	NM_000142.5(FGFR3):c.84G>A (p.Glu28=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related condition +1 more	GLikely benign
Select item 1679982	NM_000142.5(FGFR3):c.87G>C (p.Gln29His)	FGFR3 (Q29H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3065538	NM_000142.5(FGFR3):c.89G>A (p.Arg30His)	FGFR3 (R30H)	Single nucleotide variant (missense variant +1 more)	Achondroplasia	GUncertain significance
Select item 435191	NM_000142.5(FGFR3):c.109G>A (p.Glu37Lys)	FGFR3 (E37K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2854498	NM_000142.5(FGFR3):c.109+10G>C	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890706	NM_000142.5(FGFR3):c.109+12C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 811574	NM_000142.5(FGFR3):c.109+26G>A	FGFR3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1182044	NM_000142.5(FGFR3):c.109+174T>C	FGFR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212542	NM_000142.5(FGFR3):c.109+297C>A	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280506	NM_000142.5(FGFR3):c.109+309C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195496	NM_000142.5(FGFR3):c.110-218C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921260	NM_000142.5(FGFR3):c.110-67C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2739714	NM_000142.5(FGFR3):c.110-17G>C	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1679983	NM_000142.5(FGFR3):c.110-13A>G	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1679984	NM_000142.5(FGFR3):c.116C>T (p.Pro39Leu)	FGFR3 (P39L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679985	NM_000142.5(FGFR3):c.117G>A (p.Pro39=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1703280	NM_000142.5(FGFR3):c.129del (p.Gly44fs)	FGFR3 (G44fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 134397	NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser)	FGFR3 (G44S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2058492	NM_000142.5(FGFR3):c.145T>C (p.Leu49=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2768091	NM_000142.5(FGFR3):c.147G>A (p.Leu49=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 283366	NM_000142.5(FGFR3):c.150C>T (p.Val50=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 716579	NM_000142.5(FGFR3):c.154G>A (p.Gly52Ser)	FGFR3 (G52S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 501373	NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr)	FGFR3 (S53T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2957964	NM_000142.5(FGFR3):c.159C>A (p.Ser53Arg)	FGFR3 (S53R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 718114	NM_000142.5(FGFR3):c.159C>T (p.Ser53=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related condition +1 more	GLikely benign
Select item 2000392	NM_000142.5(FGFR3):c.160G>A (p.Gly54Arg)	FGFR3 (G54R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2086060	NM_000142.5(FGFR3):c.162G>A (p.Gly54=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 134398	NM_000142.5(FGFR3):c.169G>A (p.Val57Met)	FGFR3 (V57M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2916942	NM_000142.5(FGFR3):c.172G>A (p.Glu58Lys)	FGFR3 (E58K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430084	NM_000142.5(FGFR3):c.172G>C (p.Glu58Gln)	FGFR3 (E58Q)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 1679986	NM_000142.5(FGFR3):c.179G>C (p.Ser60Thr)	FGFR3 (S60T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2855128	NM_000142.5(FGFR3):c.180C>T (p.Ser60=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1684285	NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)	FGFR3 (P62S)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disoder +14 more	GUncertain significance
Select item 134395	NM_000142.5(FGFR3):c.184C>G (p.Pro62Ala)	FGFR3 (P62A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 978157	NM_000142.5(FGFR3):c.188C>T (p.Pro63Leu)	FGFR3 (P63L)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +1 more	GConflicting classifications of pathogenicity
Select item 465348	NM_000142.5(FGFR3):c.188C>G (p.Pro63Arg)	FGFR3 (P63R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2042715	NM_000142.5(FGFR3):c.189G>T (p.Pro63=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1187885	NM_000142.5(FGFR3):c.189G>A (p.Pro63=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2720256	NM_000142.5(FGFR3):c.192C>G (p.Pro64=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related condition +1 more	GLikely benign
Select item 702287	NM_000142.5(FGFR3):c.192C>T (p.Pro64=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 134399	NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg)	FGFR3 (G65R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2306111	NM_000142.5(FGFR3):c.194G>T (p.Gly65Val)	FGFR3 (G65V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 978772	NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala)	FGFR3 (G67A)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia type 1 +1 more	GUncertain significance
Select item 546226	NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)	FGFR3 (G67D)	Single nucleotide variant (missense variant +1 more)	not provided +15 more	GConflicting classifications of pathogenicity
Select item 465351	NM_000142.5(FGFR3):c.201T>C (p.Gly67=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1315100	NM_000142.5(FGFR3):c.202_204delinsT (p.Pro68fs)	FGFR3 (P68fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1679987	NM_000142.5(FGFR3):c.205A>G (p.Met69Val)	FGFR3 (M69V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2814111	NM_000142.5(FGFR3):c.227A>G (p.Lys76Arg)	FGFR3 (K76R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 16358	NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu)	FGFR3 (S84L)	Single nucleotide variant (missense variant +1 more)	Hypochondroplasia +9 more	GPathogenic/Likely pathogenic
Select item 196219	NM_000142.5(FGFR3):c.252G>A (p.Ser84=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2497974	NM_000142.5(FGFR3):c.256C>T (p.Arg86Cys)	FGFR3 (R86C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2485657	NM_000142.5(FGFR3):c.266T>C (p.Val89Ala)	FGFR3 (V89A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1679988	NM_000142.5(FGFR3):c.270G>T (p.Gly90=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 282687	NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu)	FGFR3 (P91L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2758878	NM_000142.5(FGFR3):c.273C>T (p.Pro91=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 585298	NM_000142.5(FGFR3):c.276_277delinsAT (p.Arg93Trp)	FGFR3 (R93W)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1206359	NM_000142.5(FGFR3):c.277C>T (p.Arg93Trp)	FGFR3 (R93W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679989	NM_000142.5(FGFR3):c.278G>A (p.Arg93Gln)	FGFR3 (R93Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2102729	NM_000142.5(FGFR3):c.279G>A (p.Arg93=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2765577	NM_000142.5(FGFR3):c.280C>T (p.Leu94=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008738	NM_000142.5(FGFR3):c.282G>A (p.Leu94=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 134396	NM_000142.5(FGFR3):c.299C>G (p.Ser100Cys)	FGFR3 (S100C)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 1679990	NM_000142.5(FGFR3):c.303C>T (p.His101=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 779719	NM_000142.5(FGFR3):c.304G>A (p.Glu102Lys)	FGFR3 (E102K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 465353	NM_000142.5(FGFR3):c.312C>T (p.Ser104=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1679991	NM_000142.5(FGFR3):c.313G>A (p.Gly105Arg)	FGFR3 (G105R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679992	NM_000142.5(FGFR3):c.316G>A (p.Ala106Thr)	FGFR3 (A106T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2882348	NM_000142.5(FGFR3):c.324C>T (p.Ser108=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1315452	NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp)	FGFR3 (R110W)	Single nucleotide variant (missense variant +1 more)	Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype +1 more	GUncertain significance

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