ClinVar for MedGen (Select 375052) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 2264111.	NM_005379.4(MYO1A):c.2021G>A (p.Gly674Asp) GRCh37: Chr12:57431366 GRCh38: Chr12:57037582	MYO1A	G674D	Autosomal dominant nonsyndromic hearing loss 48	Likely benign (May 10, 2016)	no assertion criteria provided
Select item 2264102.	NM_005379.4(MYO1A):c.1011+2T>G GRCh37: Chr12:57437022 GRCh38: Chr12:57043238	MYO1A		Autosomal dominant nonsyndromic hearing loss 48	Likely benign (May 10, 2016)	no assertion criteria provided
Select item 2264093.	NM_005379.4(MYO1A):c.640+1G>C GRCh37: Chr12:57440335 GRCh38: Chr12:57046551	MYO1A		Autosomal dominant nonsyndromic hearing loss 48	Likely benign (May 10, 2016)	no assertion criteria provided
Select item 2264084.	NM_005379.4(MYO1A):c.235G>T (p.Ala79Ser) GRCh37: Chr12:57441501 GRCh38: Chr12:57047717	LOC126861538, MYO1A	A79S	Autosomal dominant nonsyndromic hearing loss 48	Likely benign (May 10, 2016)	no assertion criteria provided
Select item 1645905.	NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly) GRCh37: Chr12:57431732 GRCh38: Chr12:57037948	MYO1A	R628G	not specified	Likely benign (Dec 19, 2017)	criteria provided, multiple submitters, no conflicts
Select item 81516.	NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro) GRCh37: Chr12:57423368 GRCh38: Chr12:57029584	MYO1A	S910P	Autosomal dominant nonsyndromic hearing loss 48	Uncertain significance (May 1, 2014)	no assertion criteria provided
Select item 81507.	NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu) GRCh37: Chr12:57431402 GRCh38: Chr12:57037618	MYO1A	G662E	not specified	Benign (Nov 10, 2017)	criteria provided, multiple submitters, no conflicts
Select item 81498.	NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp) GRCh37: Chr12:57435225 GRCh38: Chr12:57041441	MYO1A	E385D	Autosomal dominant nonsyndromic hearing loss 48	Uncertain significance (May 1, 2014)	no assertion criteria provided
Select item 81489.	NM_005379.4(MYO1A):c.916G>A (p.Val306Met) GRCh37: Chr12:57437119 GRCh38: Chr12:57043335	MYO1A	V306M	not specified, not provided	Benign/Likely benign (Jun 4, 2018)	criteria provided, multiple submitters, no conflicts
Select item 814710.	NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup) GRCh37: Chr12:57441167-57441168 GRCh38: Chr12:57047383-57047384	LOC126861538, MYO1A		Autosomal dominant nonsyndromic hearing loss 48	Uncertain significance (May 1, 2014)	no assertion criteria provided
Select item 814611.	NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) GRCh37: Chr12:57441459 GRCh38: Chr12:57047675	LOC126861538, MYO1A	R93*	not specified, not provided	Conflicting interpretations of pathogenicity (Feb 28, 2022)	criteria provided, conflicting interpretations