ClinVar for MedGen (Select 342803) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 426706	NM_005247.4(FGF3):c.100G>T (p.Gly34Cys)	FGF3, LOC109115964 (G34C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 38385	NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)	FGF3 (R95W)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
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 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 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 29816	NM_005247.4(FGF3):c.146A>G (p.Tyr49Cys)	FGF3, LOC109115964 (Y49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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
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 13838	NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)	FGF3 (R104*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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

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Items: 21