ClinVar for MedGen (Select 375052) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226411	NM_005379.4(MYO1A):c.2021G>A (p.Gly674Asp)	MYO1A (G674D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 226410	NM_005379.4(MYO1A):c.1011+2T>G	MYO1A	Single nucleotide variant (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 48	GLikely benign
Select item 226409	NM_005379.4(MYO1A):c.640+1G>C	MYO1A	Single nucleotide variant (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 48	GLikely benign
Select item 226408	NM_005379.4(MYO1A):c.235G>T (p.Ala79Ser)	MYO1A, LOC126861538 (A79S)	Single nucleotide variant (missense variant)	MYO1A-related condition	GBenign
Select item 164590	NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly)	MYO1A (R628G)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 8151	NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro)	MYO1A (S910P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 48	GUncertain significance
Select item 8150	NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu)	MYO1A (G662E)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 8149	NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp)	MYO1A (E385D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 48	GUncertain significance
Select item 8148	NM_005379.4(MYO1A):c.916G>A (p.Val306Met)	MYO1A (V306M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 8147	NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup)	LOC126861538, MYO1A	Duplication (inframe_insertion)	Autosomal dominant nonsyndromic hearing loss 48	GUncertain significance
Select item 8146	NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)	LOC126861538, MYO1A (R93*)	Single nucleotide variant (nonsense)	MYO1A-related condition +2 more	GConflicting classifications of pathogenicity