FGF3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 1207500	NM_005247.4(FGF3):c.*260G>A	FGF3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2286483	NM_005247.4(FGF3):c.691G>A (p.Gly231Ser)	FGF3 (G231S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256014	NM_005247.4(FGF3):c.683C>T (p.Ser228Leu)	FGF3 (S228L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1494139	NM_005247.4(FGF3):c.673G>A (p.Val225Ile)	FGF3 (V225I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791480	NM_005247.4(FGF3):c.672C>T (p.His224=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1302601	NM_005247.4(FGF3):c.659T>G (p.Leu220Arg)	FGF3 (L220R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048764	NM_005247.4(FGF3):c.651G>A (p.Pro217=)	FGF3	Single nucleotide variant (synonymous variant)	FGF3-related disorder	GLikely benign
Select item 728881	NM_005247.4(FGF3):c.648C>T (p.Ser216=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2223488	NM_005247.4(FGF3):c.635G>A (p.Arg212Gln)	FGF3 (R212Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731238	NM_005247.4(FGF3):c.629G>A (p.Arg210Gln)	FGF3 (R210Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 734622	NM_005247.4(FGF3):c.625C>A (p.Arg209=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 596882	NM_005247.4(FGF3):c.625C>T (p.Arg209Ter)	FGF3 (R209*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 13839	NM_005247.4(FGF3):c.616del (p.Val206fs)	FGF3 (V206fs)	Deletion (frameshift variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GPathogenic
Select item 3257760	NM_005247.4(FGF3):c.612_613delinsTT	FGF3 (K204N +1 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 2460131	NM_005247.4(FGF3):c.590G>A (p.Gly197Glu)	FGF3 (G197E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3383829	NM_005247.4(FGF3):c.575G>A (p.Arg192Gln)	FGF3 (R192Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427215	NM_005247.4(FGF3):c.570G>A (p.Met190Ile)	FGF3 (M190I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2762567	NM_005247.4(FGF3):c.567G>A (p.Glu189=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469584	NM_005247.4(FGF3):c.551A>T (p.Asp184Val)	FGF3 (D184V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2454250	NM_005247.4(FGF3):c.544G>A (p.Val182Met)	FGF3 (V182M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1466163	NM_005247.4(FGF3):c.523T>A (p.Ser175Thr)	FGF3 (S175T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076938	NM_005247.4(FGF3):c.512G>A (p.Arg171His)	FGF3 (R171H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684743	NM_005247.4(FGF3):c.509G>A (p.Arg170His)	FGF3 (R170H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1940122	NM_005247.4(FGF3):c.507C>G (p.Thr169=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978293	NM_005247.4(FGF3):c.498C>T (p.Gly166=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2501900	NM_005247.4(FGF3):c.484C>A (p.Arg162=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2801717	NM_005247.4(FGF3):c.480G>A (p.Lys160=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2505842	NM_005247.4(FGF3):c.475G>A (p.Gly159Ser)	FGF3 (G159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13837	NM_005247.4(FGF3):c.466T>C (p.Ser156Pro)	FGF3 (S156P)	Single nucleotide variant (missense variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GPathogenic
Select item 1468989	NM_005247.4(FGF3):c.463G>A (p.Val155Met)	FGF3 (V155M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 795988	NM_005247.4(FGF3):c.462C>T (p.Tyr154=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627444	NM_005247.4(FGF3):c.462C>G (p.Tyr154Ter)	FGF3 (Y154*)	Single nucleotide variant (nonsense)	Deafness with labyrinthine aplasia, microtia, and microdontia	GLikely pathogenic
Select item 29818	NM_005247.4(FGF3):c.457_458del (p.Trp153fs)	FGF3 (W153fs)	Microsatellite (frameshift variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GPathogenic
Select item 2254254	NM_005247.4(FGF3):c.448G>A (p.Glu150Lys)	FGF3 (E150K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3364047	NM_005247.4(FGF3):c.434G>A (p.Arg145Gln)	FGF3 (R145Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677104	NM_005247.4(FGF3):c.431del (p.Arg144fs)	FGF3 (R144fs)	Deletion (frameshift variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GLikely pathogenic
Select item 259689	NM_005247.4(FGF3):c.420G>A (p.Thr140=)	FGF3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2581774	NM_005247.4(FGF3):c.419C>T (p.Thr140Met)	FGF3 (T140M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119446	NM_005247.4(FGF3):c.411G>A (p.Val137=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259688	NM_005247.4(FGF3):c.408G>A (p.Thr136=)	FGF3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1500409	NM_005247.4(FGF3):c.407C>T (p.Thr136Met)	FGF3 (T136M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480559	NM_005247.4(FGF3):c.404G>A (p.Arg135Gln)	FGF3 (R135Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493848	NM_005247.4(FGF3):c.394C>T (p.Arg132Trp)	FGF3 (R132W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 38386	NM_005247.4(FGF3):c.394del (p.Arg132fs)	FGF3 (R132fs)	Deletion (frameshift variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	Gnot provided
Select item 1426032	NM_005247.4(FGF3):c.386A>G (p.Tyr129Cys)	FGF3 (Y129C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310247	NM_005247.4(FGF3):c.377A>C (p.Tyr126Ser)	FGF3 (Y126S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844855	NM_005247.4(FGF3):c.355G>T (p.Glu119Ter)	FGF3 (E119*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1375736	NM_005247.4(FGF3):c.348G>T (p.Glu116Asp)	FGF3 (E116D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377840	NM_005247.4(FGF3):c.346G>A (p.Glu116Lys)	FGF3 (E116K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545794	NM_005247.4(FGF3):c.346G>C (p.Glu116Gln)	FGF3 (E116Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1608947	NM_005247.4(FGF3):c.339C>T (p.Ala113=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3278642	NM_005247.4(FGF3):c.337G>A (p.Ala113Thr)	FGF3 (A113T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046749	NM_005247.4(FGF3):c.333C>T (p.Tyr111=)	FGF3	Single nucleotide variant (synonymous variant)	FGF3-related disorder	GLikely benign
Select item 1805687	NM_005247.4(FGF3):c.325-2A>G	FGF3	Single nucleotide variant (splice acceptor variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GUncertain significance
Select item 259687	NM_005247.4(FGF3):c.325-5C>T	FGF3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1626865	NM_005247.4(FGF3):c.325-19T>C	FGF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181022	NM_005247.4(FGF3):c.325-43A>G	FGF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194630	NM_005247.4(FGF3):c.325-186A>G	FGF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218962	NM_005247.4(FGF3):c.325-203A>T	FGF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249252	NM_005247.4(FGF3):c.325-262C>T	FGF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208202	NM_005247.4(FGF3):c.324+281C>T	FGF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290464	NM_005247.4(FGF3):c.324+115C>T	FGF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284175	NM_005247.4(FGF3):c.324+110C>T	FGF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2966257	NM_005247.4(FGF3):c.324+18C>T	FGF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202088	NM_005247.4(FGF3):c.324+15T>C	FGF3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1614899	NM_005247.4(FGF3):c.324+11G>A	FGF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 29817	NM_005247.4(FGF3):c.317A>G (p.Tyr106Cys)	FGF3 (Y106C)	Single nucleotide variant (missense variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GPathogenic
Select item 1525390	NM_005247.4(FGF3):c.316T>G (p.Tyr106Asp)	FGF3 (Y106D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441421	NM_005247.4(FGF3):c.314T>A (p.Leu105His)	FGF3 (L105H)	Single nucleotide variant (missense variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GLikely pathogenic
Select item 2429662	NM_005247.4(FGF3):c.311G>C (p.Arg104Pro)	FGF3 (R104P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297590	NM_005247.4(FGF3):c.310dup (p.Arg104fs)	FGF3 (R104fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 13838	NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)	FGF3 (R104*)	Single nucleotide variant (nonsense)	Deafness with labyrinthine aplasia, microtia, and microdontia +2 more	GPathogenic/Likely pathogenic
Select item 776638	NM_005247.4(FGF3):c.303G>C (p.Lys101Asn)	FGF3 (K101N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 38385	NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)	FGF3 (R95W)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 596475	NM_005247.4(FGF3):c.280G>A (p.Gly94Arg)	FGF3 (G94R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1199461	NM_005247.4(FGF3):c.279C>T (p.Ser93=)	FGF3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 417891	NM_005247.4(FGF3):c.270dup (p.Leu91fs)	FGF3 (L91fs)	Duplication (frameshift variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GPathogenic
Select item 3376260	NM_005247.4(FGF3):c.269del (p.Gly90fs)	FGF3 (G90fs)	Deletion (frameshift variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GLikely pathogenic
Select item 1704961	NM_005247.4(FGF3):c.269G>T (p.Gly90Val)	FGF3 (G90V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3352425	NM_005247.4(FGF3):c.265del (p.Arg89fs)	FGF3 (R89fs)	Deletion (frameshift variant)	FGF3-related disorder	GLikely pathogenic
Select item 13842	NM_005247.4(FGF3):c.255del (p.Ile85fs)	FGF3 (I85fs)	Deletion (frameshift variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GPathogenic
Select item 1348936	NM_005247.4(FGF3):c.221G>A (p.Ser74Asn)	FGF3 (S74N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015207	NM_005247.4(FGF3):c.221-1G>C	FGF3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2997558	NM_005247.4(FGF3):c.221-15T>C	FGF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759440	NM_005247.4(FGF3):c.221-17C>A	FGF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197782	NM_005247.4(FGF3):c.221-106C>T	FGF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190185	NM_005247.4(FGF3):c.221-249G>A	FGF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225751	NM_005247.4(FGF3):c.220+172G>T	FGF3, LOC109115964	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2060698	NM_005247.4(FGF3):c.220+19G>C	FGF3, LOC109115964	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 13840	NM_005247.4(FGF3):c.196G>T (p.Gly66Cys)	FGF3, LOC109115964 (G66C)	Single nucleotide variant (missense variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GLikely pathogenic
Select item 2241968	NM_005247.4(FGF3):c.183C>A (p.Ser61Arg)	FGF3, LOC109115964 (S61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094735	NM_005247.4(FGF3):c.179C>G (p.Pro60Arg)	FGF3, LOC109115964 (P60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2418976	NM_005247.4(FGF3):c.173T>C (p.Leu58Pro)	FGF3, LOC109115964 (L58P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996770	NM_005247.4(FGF3):c.166C>T (p.Leu56Phe)	FGF3, LOC109115964 (L56F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2429519	NM_005247.4(FGF3):c.154A>G (p.Thr52Ala)	FGF3, LOC109115964 (T52A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 38384	NM_005247.4(FGF3):c.150C>A (p.Cys50Ter)	FGF3, LOC109115964 (C50*)	Single nucleotide variant (nonsense)	Deafness with labyrinthine aplasia, microtia, and microdontia	Gnot provided
Select item 29816	NM_005247.4(FGF3):c.146A>G (p.Tyr49Cys)	FGF3, LOC109115964 (Y49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024085	NM_005247.4(FGF3):c.137G>C (p.Arg46Pro)	FGF3, LOC109115964 (R46P)	Single nucleotide variant (missense variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GUncertain significance
Select item 3377204	NM_005247.4(FGF3):c.106T>C (p.Tyr36His)	FGF3, LOC109115964 (Y36H)	Single nucleotide variant (missense variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GUncertain significance

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