LOC109115964[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	LOC130006238, LOC130006239 +184 more	Copy number loss	See cases	GLikely pathogenic
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)	Deafness with labyrinthine aplasia, microtia, and microdontia +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 2153343	NM_005247.4(FGF3):c.103G>A (p.Val35Ile)	FGF3, LOC109115964 (V35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1218481	NM_005247.4(FGF3):c.78G>A (p.Arg26=)	FGF3, LOC109115964	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2898315	NM_005247.4(FGF3):c.73T>C (p.Leu25=)	FGF3, LOC109115964	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 259690	NM_005247.4(FGF3):c.69G>T (p.Ala23=)	FGF3, LOC109115964	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 2413091	NM_005247.4(FGF3):c.45del (p.Trp16fs)	FGF3, LOC109115964 (W16fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2059289	NM_005247.4(FGF3):c.43G>A (p.Gly15Ser)	FGF3, LOC109115964 (G15S)	Single nucleotide variant (missense variant)	not provided +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 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 1201460	NM_005247.4(FGF3):c.-63C>T	FGF3, LOC109115964	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1226798	NM_005247.4(FGF3):c.-124G>T	FGF3, LOC109115964	Single nucleotide variant (5 prime UTR 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 1230957	NC_000011.10:g.69819659G>A	FGF3, LOC109115964	Single nucleotide variant	not provided	GBenign
Select item 1232548	NC_000011.10:g.69819665A>G	FGF3, LOC109115964	Single nucleotide variant	not provided	GBenign

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Items: 30