"Institute of Human Genetics, Cologne University"[submitter] AND "USH1 - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371732	NM_153676.4(USH1C):c.496+1G>A	USH1C	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 2579696	NM_153676.4(USH1C):c.105-2A>G	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic