"Laboratory of Human Genetics, Universidade de São Paulo"[submitter] A - 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 488040	NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)	MITF (R110* +6 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 372755	NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)	MITF (R255* +9 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic