"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FIG4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137376	NM_014845.6(FIG4):c.27C>T (p.Ile9=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4J +8 more	GBenign/Likely benign
Select item 917083	NM_014845.6(FIG4):c.447-17dup	FIG4	Duplication (intron variant)	Charcot-Marie-Tooth disease type 4 +6 more	GBenign/Likely benign
Select item 917077	NM_014845.6(FIG4):c.447-16delinsTT	FIG4	Indel (intron variant)	Bilateral parasagittal parieto-occipital polymicrogyria +4 more	GLikely benign
Select item 260450	NM_014845.6(FIG4):c.447-16G>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +7 more	GBenign/Likely benign
Select item 420149	NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)	FIG4 (W246*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 11 +6 more	GPathogenic
Select item 355038	NM_014845.6(FIG4):c.1242T>C (p.Ile414=)	FIG4	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 585870	NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)	FIG4 (S787N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +6 more	GUncertain significance
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

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