"Myriad Genetics, Inc."[submitter] AND "LAMA3"[gene] - 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 8792	NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)	LAMA3 (R2214* +3 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GPathogenic
Select item 189152	NM_198129.4(LAMA3):c.8177+2T>G	LAMA3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic