Related gene-specific medical variations for Gene (Select 2248) - ClinVar

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

Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244763	NC_000011.9:g.(?_69625073)_(69633701_?)del	FGF3	Deletion	not provided	GPathogenic
Select item 3094737	NM_005247.4(FGF3):c.88G>A (p.Gly30Ser)	FGF3, LOC109115964 (G30S)	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 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 2898315	NM_005247.4(FGF3):c.73T>C (p.Leu25=)	FGF3, LOC109115964	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2429519	NM_005247.4(FGF3):c.154A>G (p.Thr52Ala)	FGF3, LOC109115964 (T52A)	Single nucleotide variant (missense variant)	not provided	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 2413091	NM_005247.4(FGF3):c.45del (p.Trp16fs)	FGF3, LOC109115964 (W16fs)	Deletion (frameshift variant)	not provided	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 2153343	NM_005247.4(FGF3):c.103G>A (p.Val35Ile)	FGF3, LOC109115964 (V35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060698	NM_005247.4(FGF3):c.220+19G>C	FGF3, LOC109115964	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2059289	NM_005247.4(FGF3):c.43G>A (p.Gly15Ser)	FGF3, LOC109115964 (G15S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2021874	NM_005247.4(FGF3):c.23T>C (p.Leu8Pro)	FGF3, LOC109115964 (L8P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700330	NM_005247.4(FGF3):c.71G>A (p.Arg24Gln)	FGF3, LOC109115964 (R24Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315023	NM_005247.4(FGF3):c.76C>A (p.Arg26=)	FGF3, LOC109115964	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1226798	NM_005247.4(FGF3):c.-124G>T	FGF3, LOC109115964	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1225751	NM_005247.4(FGF3):c.220+172G>T	FGF3, LOC109115964	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219602	NM_005247.4(FGF3):c.-331G>T	FGF3, LOC109115964	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1218481	NM_005247.4(FGF3):c.78G>A (p.Arg26=)	FGF3, LOC109115964	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1204912	NM_005247.4(FGF3):c.57G>A (p.Ala19=)	FGF3, LOC109115964	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1201460	NM_005247.4(FGF3):c.-63C>T	FGF3, LOC109115964	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 426706	NM_005247.4(FGF3):c.100G>T (p.Gly34Cys)	FGF3, LOC109115964 (G34C)	Single nucleotide variant (missense variant)	Deafness with labyrinthine aplasia, microtia, and microdontia +1 more	GConflicting classifications of pathogenicity
Select item 259690	NM_005247.4(FGF3):c.69G>T (p.Ala23=)	FGF3, LOC109115964	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 13841	NM_005247.4(FGF3):c.17T>C (p.Leu6Pro)	LOC109115964, FGF3 (L6P)	Single nucleotide variant (missense variant)	Deafness with labyrinthine aplasia, microtia, and microdontia	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 30