"OMIM"[submitter] AND "NDRG1"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132796	NG_007943.1:g.(43089_43830)_(47717_51712)dup	LOC130001212, NDRG1	Duplication	Charcot-Marie-Tooth disease type 4D	GPathogenic
Select item 5121	NM_006096.4(NDRG1):c.538-1G>A	NDRG1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 5120	NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)	NDRG1 (R148* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +2 more	GPathogenic

Format

Sort by

Choose Destination

ClinVar