ClinVar for MedGen (Select 453237) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17093631.	NM_001031679.3(MSRB3):c.383G>A (p.Cys128Tyr) GRCh37: Chr12:65847598 GRCh38: Chr12:65453818	MSRB3	C128Y, C135Y	Autosomal recessive nonsyndromic hearing loss 74	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 17093622.	NM_001031679.3(MSRB3):c.238GTT[1] (p.Val81del) GRCh37: Chr12:65722357-65722359 GRCh38: Chr12:65328577-65328579	MSRB3	V81del, V88del	Autosomal recessive nonsyndromic hearing loss 74	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 13247423.	NM_001031679.3(MSRB3):c.-147T>G GRCh37: Chr12:65672550 GRCh38: Chr12:65278770	MSRB3	M1R	Autosomal recessive nonsyndromic hearing loss 74	Likely pathogenic (Aug 4, 2020)	criteria provided, single submitter
Select item 13247414.	NM_001031679.3(MSRB3):c.77-2A>G GRCh37: Chr12:65720604 GRCh38: Chr12:65326824	MSRB3		Autosomal recessive nonsyndromic hearing loss 74, not provided	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 13015885.	NM_001031679.3(MSRB3):c.-51-1502G>A GRCh37: Chr12:65700807 GRCh38: Chr12:65307027	MSRB3		Autosomal recessive nonsyndromic hearing loss 74	Uncertain significance (Jan 8, 2020)	criteria provided, single submitter
Select item 11856166.	NM_001031679.3(MSRB3):c.406G>A (p.Gly136Arg) GRCh37: Chr12:65856950 GRCh38: Chr12:65463170	MSRB3	G136R, G143R	Autosomal recessive nonsyndromic hearing loss 74	Likely pathogenic	no assertion criteria provided
Select item 5620777.	NM_001031679.3(MSRB3):c.391-1G>A GRCh37: Chr12:65856934 GRCh38: Chr12:65463154	MSRB3		Autosomal recessive nonsyndromic hearing loss 74	Pathogenic	criteria provided, single submitter
Select item 310568.	NM_001031679.3(MSRB3):c.55C>T (p.Arg19Ter) GRCh37: Chr12:65702414 GRCh38: Chr12:65308634	MSRB3	R19*	Autosomal recessive nonsyndromic hearing loss 74	Pathogenic (Jan 7, 2011)	no assertion criteria provided
Select item 310559.	NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly) GRCh37: Chr12:65722364 GRCh38: Chr12:65328584	MSRB3	C89G, C82G	Autosomal recessive nonsyndromic hearing loss 74, Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Jan 7, 2011)	no assertion criteria provided