"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - 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 198548	NM_006790.3(MYOT):c.1008G>T (p.Val336=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Dominant +4 more	GBenign/Likely benign
Select item 288403	NM_006790.3(MYOT):c.1401T>C (p.Asn467=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity