"GJB4-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 791789	NM_153212.3(GJB4):c.183C>A (p.Pro61=)	GJB4	Single nucleotide variant (synonymous variant)	GJB4-related disorder +1 more	GBenign
Select item 782907	NM_153212.3(GJB4):c.224G>A (p.Arg75His)	GJB4 (R75H)	Single nucleotide variant (missense variant)	GJB4-related disorder +1 more	GBenign
Select item 783282	NM_153212.3(GJB4):c.238C>T (p.Gln80Ter)	GJB4 (Q80*)	Single nucleotide variant (nonsense)	GJB4-related disorder +2 more	GBenign/Likely benign
Select item 2920395	NM_153212.3(GJB4):c.294C>T (p.Arg98=)	GJB4	Single nucleotide variant (synonymous variant)	GJB4-related disorder +1 more	GBenign/Likely benign
Select item 3052670	NM_153212.3(GJB4):c.330G>A (p.Gly110=)	GJB4	Single nucleotide variant (synonymous variant)	GJB4-related disorder	GLikely benign
Select item 777074	NM_153212.3(GJB4):c.369G>A (p.Lys123=)	GJB4	Single nucleotide variant (synonymous variant)	GJB4-related disorder +1 more	GLikely benign
Select item 713645	NM_153212.3(GJB4):c.371G>A (p.Arg124Gln)	GJB4 (R124Q)	Single nucleotide variant (missense variant)	GJB4-related disorder +1 more	GLikely benign
Select item 252789	NM_153212.3(GJB4):c.507C>G (p.Cys169Trp)	GJB4 (C169W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign

ClinVar