"Inherited Neuropathy Consortium"[submitter] AND "FGD4"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 637079	NM_001370298.3(FGD4):c.925dup (p.Ala309fs)	FGD4 (A172fs +3 more)	Duplication (frameshift variant +3 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637942	NM_001370298.3(FGD4):c.1248-2A>G	FGD4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637082	NM_001370298.3(FGD4):c.1248-1G>A	FGD4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 38445	NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)	FGD4 (M298R +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 1015	NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)	FGD4 (M298T +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 637080	NM_001370298.3(FGD4):c.1543+1G>A	FGD4	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 38443	NM_001370298.3(FGD4):c.1736G>A (p.Arg579His)	FGD4 (R442H +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4H +1 more	GUncertain significance
Select item 1013	NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs)	FGD4 (E199fs +6 more)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 637078	NM_001370298.3(FGD4):c.2109G>A (p.Met703Ile)	FGD4 (M566I +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 1017	NM_001370298.3(FGD4):c.2173-2A>G	FGD4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 637084	NM_001370298.3(FGD4):c.2183G>A (p.Trp728Ter)	FGD4 (W676* +6 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 419181	NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs)	FGD4 (K382fs +6 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 637083	NM_001370298.3(FGD4):c.2297_2300del (p.Arg766fs)	FGD4 (R445fs +6 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637081	NM_001370298.3(FGD4):c.2301_2305del (p.Lys767fs)	FGD4 (K715fs +6 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance