"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GJB1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447441	NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)	GJB1 (R22*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease X-linked dominant 1 +4 more	GPathogenic
Select item 10433	NM_000166.6(GJB1):c.415G>A (p.Val139Met)	GJB1 (V139M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 477602	NM_000166.6(GJB1):c.565G>A (p.Val189Ile)	GJB1 (V189I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GConflicting classifications of pathogenicity
Select item 10435	NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)	GJB1 (R220*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth Neuropathy X +3 more	GPathogenic
Select item 696007	NM_000166.6(GJB1):c.671G>A (p.Arg224His)	GJB1 (R224H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +3 more	GBenign/Likely benign
Select item 157521	NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)	GJB1 (R230C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 155727	NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)	GJB1 (R264C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity

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