"Eurofins Ntd Llc (ga)"[submitter] AND "GJB3"[gene] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46088	NM_024009.3(GJB3):c.94C>T (p.Arg32Trp)	GJB3 (R32W)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 1 +2 more	GBenign
Select item 6490	NM_024009.3(GJB3):c.196_198del (p.Asp66del)	GJB3 (D66del)	Deletion (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163529	NM_024009.3(GJB3):c.313C>A (p.His105Asn)	GJB3 (H105N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 46084	NM_024009.3(GJB3):c.357C>T (p.Asn119=)	GJB3	Single nucleotide variant (synonymous variant)	Erythrokeratodermia variabilis et progressiva 1 +3 more	GBenign
Select item 289016	NM_024009.3(GJB3):c.499G>A (p.Val167Met)	GJB3 (V167M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 178352	NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp)	GJB3 (Y177D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 6485	NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)	GJB3 (E183K)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 1 +2 more	GConflicting classifications of pathogenicity
Select item 163536	NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)	GJB3	Deletion	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286639	NM_024009.3(GJB3):c.670C>G (p.Arg224Gly)	GJB3 (R224G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 46087	NM_024009.3(GJB3):c.798C>T (p.Asn266=)	GJB3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign