ClinVar for MedGen (Select 390742) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1402757	NM_024009.3(GJB3):c.302G>A (p.Arg101Gln)	GJB3 (R101Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2B +1 more	GConflicting classifications of pathogenicity
Select item 876777	NM_024009.3(GJB3):c.316C>T (p.Arg106Cys)	GJB3 (R106C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2B +3 more	GConflicting classifications of pathogenicity
Select item 806107	NM_024009.3(GJB3):c.342del (p.Lys115fs)	GJB3 (K115fs)	Deletion (frameshift variant)	not provided +3 more	GUncertain significance
Select item 786722	NM_024009.3(GJB3):c.250G>A (p.Val84Ile)	GJB3 (V84I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GBenign/Likely benign
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 46085	NM_024009.3(GJB3):c.579C>T (p.Gly193=)	GJB3	Single nucleotide variant (synonymous variant)	Erythrokeratodermia variabilis et progressiva 1 +4 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 6493	NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)	GJB3 (A194T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 6491	NM_024009.3(GJB3):c.101T>C (p.Leu34Pro)	GJB3 (L34P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2B	GPathogenic
Select item 6486	NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)	GJB3 (R180*)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
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