"Baylor Genetics"[submitter] AND "FIG4"[gene] - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1721	NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	FIG4 (I41T)	Single nucleotide variant (missense variant)	FIG4-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 1733654	NM_014845.6(FIG4):c.365A>G (p.His122Arg)	FIG4 (H122R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2442211	NM_014845.6(FIG4):c.394A>G (p.Met132Val)	FIG4 (M132V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J	GUncertain significance
Select item 1029315	NM_014845.6(FIG4):c.2119G>A (p.Gly707Arg)	FIG4 (G707R)	Single nucleotide variant (missense variant)	Bilateral parasagittal parieto-occipital polymicrogyria	GUncertain significance
Select item 1333978	NM_014845.6(FIG4):c.2376+2T>G	FIG4	Single nucleotide variant (splice donor variant)	Yunis-Varon syndrome	GLikely pathogenic
Select item 804806	NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)	FIG4 (F815S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +6 more	GUncertain significance
Select item 476860	NM_014845.6(FIG4):c.2460-8A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 662216	NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys)	FIG4 (R905C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance