ClinVar for Gene (Select 2261) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369523	NM_000142.5(FGFR3):c.1864A>T (p.Asn622Tyr)	FGFR3 (N510Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369238	NM_000142.5(FGFR3):c.1133G>T (p.Ser378Ile)	FGFR3 (S378I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3369235	NM_000142.5(FGFR3):c.477G>C (p.Met159Ile)	FGFR3 (M159I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368827	NM_000142.5(FGFR3):c.1964G>C (p.Arg655Pro)	FGFR3 (R543P +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3368000	NM_000142.5(FGFR3):c.236C>T (p.Thr79Ile)	FGFR3 (T79I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367866	NM_000142.5(FGFR3):c.1031C>A (p.Ser344Tyr)	FGFR3 (S344Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3367484	NM_000142.5(FGFR3):c.2287C>G (p.Leu763Val)	FGFR3 (L651V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365927	NM_000142.5(FGFR3):c.542A>T (p.Asn181Ile)	FGFR3 (N181I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364068	NM_000142.5(FGFR3):c.446-9G>A	FGFR3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3361317	NM_000142.5(FGFR3):c.1087_1095del (p.Leu363_Glu365del)	FGFR3	Deletion (inframe_indel +3 more)	not provided	GUncertain significance
Select item 3360194	NM_000142.5(FGFR3):c.419A>T (p.Glu140Val)	FGFR3 (E140V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3357721	NM_000142.5(FGFR3):c.788A>G (p.Gln263Arg)	FGFR3 (Q263R)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder	GUncertain significance
Select item 3356780	NM_000142.5(FGFR3):c.2274C>T (p.Asp758=)	FGFR3 (R736*)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 3354221	NM_000142.5(FGFR3):c.2131C>T (p.His711Tyr)	FGFR3 (H599Y +4 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder	GUncertain significance
Select item 3353883	NM_000142.5(FGFR3):c.2271C>T (p.Thr757=)	FGFR3 (R735*)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 3352666	NM_000142.5(FGFR3):c.2061C>T (p.Ile687=)	FGFR3 (L665F)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 3349976	NM_000142.5(FGFR3):c.437_445+3del	FGFR3	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3346792	NM_000142.5(FGFR3):c.1321G>A (p.Ala441Thr)	FGFR3 (A329T +3 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder	GUncertain significance
Select item 3344652	NM_000142.5(FGFR3):c.449C>T (p.Ala150Val)	FGFR3 (A150V)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder	GUncertain significance
Select item 3343909	NM_000142.5(FGFR3):c.749C>A (p.Pro250Gln)	FGFR3 (P250Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342769	NM_000142.5(FGFR3):c.2229G>C (p.Gln743His)	FGFR3 (A721P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342646	NM_000142.5(FGFR3):c.1195C>G (p.Arg399Gly)	FGFR3 (R399G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3342383	NM_000142.5(FGFR3):c.2408del (p.Gly803fs)	FGFR3 (G691fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3341734	NM_000142.5(FGFR3):c.1737C>T (p.Phe579=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3339928	NM_000142.5(FGFR3):c.1594A>C (p.Ile532Leu)	FGFR3 (I420L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3337110	NM_000142.5(FGFR3):c.1714C>T (p.Pro572Ser)	FGFR3 (P460S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337109	NM_000142.5(FGFR3):c.925C>T (p.Leu309Phe)	FGFR3 (L309F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3336353	NM_000142.5(FGFR3):c.1821C>T (p.Tyr607=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3278671	NM_000142.5(FGFR3):c.1204C>A (p.Pro402Thr)	FGFR3 (P404T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3278670	NM_000142.5(FGFR3):c.136C>A (p.Gln46Lys)	FGFR3 (Q46K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3278669	NM_000142.5(FGFR3):c.2351G>A (p.Gly784Glu)	FGFR3 (G784E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3258068	NM_000142.5(FGFR3):c.614del (p.Lys205fs)	FGFR3 (K205fs)	Deletion (frameshift variant +1 more)	Neoplasm	OUncertain significance
Select item 3253435	NM_000142.5(FGFR3):c.1733_1735del (p.Ser578del)	FGFR3 (S466del +3 more)	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 3246774	NC_000004.11:g.(?_1795662)_(1941525_?)dup	FGFR3, LETM1 +1 more	Duplication	not provided	GUncertain significance
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 3237478	NM_000142.5(FGFR3):c.1019T>C (p.Leu340Pro)	FGFR3 (L340P)	Single nucleotide variant (missense variant +2 more)	FGFR3-related CATSHL syndrome	GUncertain significance
Select item 3234835	NM_000142.5(FGFR3):c.1618_1620delinsCAT (p.Asn540His)	FGFR3 (N428H +3 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3233627	NM_000142.5(FGFR3):c.552C>T (p.Pro184=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3094802	NM_000142.5(FGFR3):c.65C>T (p.Ser22Leu)	FGFR3 (S22L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068837	NM_000142.5(FGFR3):c.1837-16C>T	FGFR3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3068833	NM_000142.5(FGFR3):c.1988C>T (p.Pro663Leu)	FGFR3 (P551L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3068380	NM_000142.5(FGFR3):c.1436G>T (p.Gly479Val)	FGFR3 (G367V +3 more)	Single nucleotide variant (missense variant +1 more)	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	GUncertain significance
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 3064441	NM_000142.5(FGFR3):c.797T>C (p.Val266Ala)	FGFR3 (V266A)	Single nucleotide variant (missense variant +1 more)	Achondroplasia	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3061579	NM_000142.5(FGFR3):c.1224C>T (p.Ser408=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 3061051	NM_000142.5(FGFR3):c.2100G>A (p.Val700=)	FGFR3 (G678R)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 3050339	NM_000142.5(FGFR3):c.931-710G>A	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 3048957	NM_000142.5(FGFR3):c.1413-7C>T	FGFR3	Single nucleotide variant (intron variant)	FGFR3-related disorder	GLikely benign
Select item 3047089	NM_000142.5(FGFR3):c.931-6_931-5del	FGFR3	Deletion (intron variant)	FGFR3-related disorder	GLikely benign
Select item 3045150	NM_000142.5(FGFR3):c.363C>T (p.Phe121=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder	GLikely benign
Select item 3045084	NM_000142.5(FGFR3):c.931-776C>T	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 3044276	NM_000142.5(FGFR3):c.2163C>T (p.His721=)	FGFR3 (R699*)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 3041186	NM_000142.5(FGFR3):c.1109G>T (p.Gly370Val)	FGFR3 (G370V +1 more)	Single nucleotide variant (missense variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 3040561	NM_000142.5(FGFR3):c.*14C>T	FGFR3	Single nucleotide variant (3 prime UTR variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 3037592	NM_000142.5(FGFR3):c.720G>A (p.Thr240=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder	GLikely benign
Select item 3036930	NM_000142.5(FGFR3):c.939C>T (p.Gly313=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 3032240	NM_000142.5(FGFR3):c.931-640G>A	FGFR3 (G357R)	Single nucleotide variant (missense variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 3030223	NM_000142.5(FGFR3):c.1534+10G>C	FGFR3	Single nucleotide variant (intron variant)	FGFR3-related disorder	GLikely benign
Select item 3030030	NM_000142.5(FGFR3):c.1335A>G (p.Ser445=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder	GLikely benign
Select item 3028974	NM_000142.5(FGFR3):c.930+9C>G	FGFR3	Single nucleotide variant (intron variant)	FGFR3-related disorder	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 3024549	NM_000142.5(FGFR3):c.2081C>T (p.Pro694Leu)	FGFR3 (P582L +3 more)	Single nucleotide variant (missense variant +2 more)	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	GUncertain significance
Select item 3019703	NM_000142.5(FGFR3):c.805A>G (p.Ser269Gly)	FGFR3 (S269G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3019055	NM_000142.5(FGFR3):c.2166C>T (p.Asp722=)	FGFR3 (P700S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3015955	NM_000142.5(FGFR3):c.379+11G>C	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015139	NM_000142.5(FGFR3):c.1537G>T (p.Asp513Tyr)	FGFR3 (D401Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012688	NM_000142.5(FGFR3):c.436_445+2dup	FGFR3	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3009569	NM_000142.5(FGFR3):c.589G>A (p.Gly197Ser)	FGFR3 (G197S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3007188	NM_000142.5(FGFR3):c.469G>A (p.Glu157Lys)	FGFR3 (E157K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006796	NM_000142.5(FGFR3):c.1250T>A (p.Phe417Tyr)	FGFR3 (F419Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3004562	NM_000142.5(FGFR3):c.1384G>A (p.Asp462Asn)	FGFR3 (D350N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003722	NM_000142.5(FGFR3):c.1127T>C (p.Ile376Thr)	FGFR3 (I376T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3001732	NM_000142.5(FGFR3):c.577A>G (p.Arg193Gly)	FGFR3 (R193G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000068	NM_000142.5(FGFR3):c.1645+18G>A	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997825	NM_000142.5(FGFR3):c.2275-14C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987849	NM_000142.5(FGFR3):c.1272C>T (p.Ser424=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973192	NM_000142.5(FGFR3):c.431C>G (p.Thr144Arg)	FGFR3 (T144R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960799	NM_000142.5(FGFR3):c.446-14A>G	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959683	NM_000142.5(FGFR3):c.341C>T (p.Thr114Met)	FGFR3 (T114M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958591	NM_000142.5(FGFR3):c.1018C>T (p.Leu340=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2958540	NM_000142.5(FGFR3):c.1413G>A (p.Arg471=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2956951	NM_000142.5(FGFR3):c.2292G>A (p.Ser764=)	FGFR3 (G742S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2956278	NM_000142.5(FGFR3):c.1716C>T (p.Pro572=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955411	NM_000142.5(FGFR3):c.2050C>T (p.Leu684Phe)	FGFR3 (L572F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2921260	NM_000142.5(FGFR3):c.110-67C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2920988	NM_000142.5(FGFR3):c.931-797G>A	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920603	NM_000142.5(FGFR3):c.983A>G (p.Asn328Ser)	FGFR3 (N328S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2920055	NM_000142.5(FGFR3):c.1075+6G>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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