ClinVar for MedGen (Select 390742) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 8767771.	NM_024009.3(GJB3):c.316C>T (p.Arg106Cys) GRCh37: Chr1:35250679 GRCh38: Chr1:34785078	GJB3	R106C	Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, not provided	Conflicting interpretations of pathogenicity (Aug 4, 2022)	criteria provided, conflicting interpretations
Select item 8061072.	NM_024009.3(GJB3):c.342del (p.Lys115fs) GRCh37: Chr1:35250704 GRCh38: Chr1:34785103	GJB3	K115fs	Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A, not provided	Uncertain significance (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7867223.	NM_024009.3(GJB3):c.250G>A (p.Val84Ile) GRCh37: Chr1:35250613 GRCh38: Chr1:34785012	GJB3	V84I	Autosomal dominant nonsyndromic hearing loss 2B, Erythrokeratodermia variabilis et progressiva 1, Autosomal recessive nonsyndromic hearing loss 1A, not provided, Erythrokeratodermia variabilis et progressiva 1	Benign/Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2890164.	NM_024009.3(GJB3):c.499G>A (p.Val167Met) GRCh37: Chr1:35250862 GRCh38: Chr1:34785261	GJB3	V167M	not provided, Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A, Erythrokeratodermia variabilis et progressiva 1	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 460855.	NM_024009.3(GJB3):c.579C>T (p.Gly193=) GRCh37: Chr1:35250942 GRCh38: Chr1:34785341	GJB3		Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A, Erythrokeratodermia variabilis et progressiva 1, not specified, not provided, Erythrokeratodermia variabilis et progressiva 1	Benign/Likely benign (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 460846.	NM_024009.3(GJB3):c.357C>T (p.Asn119=) GRCh37: Chr1:35250720 GRCh38: Chr1:34785119	GJB3		not specified, not provided, Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64937.	NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) GRCh37: Chr1:35250943 GRCh38: Chr1:34785342	GJB3	A194T	Erythrokeratodermia variabilis et progressiva 1, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 2B, not provided, Erythrokeratodermia variabilis et progressiva 1	Benign/Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64868.	NM_024009.3(GJB3):c.538C>T (p.Arg180Ter) GRCh37: Chr1:35250901 GRCh38: Chr1:34785300	GJB3	R180*	not provided, not specified	Uncertain significance (Apr 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64859.	NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) GRCh37: Chr1:35250910 GRCh38: Chr1:34785309	GJB3	E183K	not specified, not provided, Erythrokeratodermia variabilis et progressiva 1	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations