"Genetic Services Laboratory, University of Chicago"[submitter] AND "L - 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 435782	NM_198271.5(LMOD3):c.253C>A (p.Leu85Met)	LMOD3, LOC126806710 (L85M)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +2 more	GBenign/Likely benign
Select item 435783	NM_198271.5(LMOD3):c.252G>A (p.Met84Ile)	LMOD3, LOC126806710 (M84I)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +2 more	GBenign/Likely benign