"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 16476	NM_000146.4(FTL):c.-168G>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GPathogenic
Select item 156440	NM_000146.4(FTL):c.163T>C (p.Leu55=)	FTL, GYS1	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +5 more	GBenign
Select item 329787	NM_000146.4(FTL):c.522C>T (p.His174=)	FTL	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +2 more	GBenign/Likely benign

Format

Sort by

Choose Destination