ClinVar for MedGen (Select 349054) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 424817	NM_153700.2(STRC):c.[4057C>T];[4171C>G]			Autosomal dominant nonsyndromic hearing loss 16	GPathogenic
Select item 236065	15q15.3 deletion	STRC	Deletion	Autosomal dominant nonsyndromic hearing loss 16	GPathogenic
Select item 165311	NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)	STRC (R1391G)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination