"Molecular Genetics Laboratory, London Health Sciences Centre"[submitt - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379907	NM_006096.4(NDRG1):c.789G>A (p.Ser263=)	LOC126860531, NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GConflicting classifications of pathogenicity
Select item 917393	NM_006096.4(NDRG1):c.766C>T (p.Leu256=)	LOC126860531, NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917156	NM_006096.4(NDRG1):c.756-5_756-4delinsTG	LOC126860531, NDRG1	Indel (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 138434	NM_006096.4(NDRG1):c.756-5C>T	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4D +3 more	GBenign
Select item 917394	NM_006096.4(NDRG1):c.756-13T>C	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 138433	NM_006096.4(NDRG1):c.755+10T>C	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 917149	NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn)	LOC126860531, NDRG1 (D155N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 476848	NM_006096.4(NDRG1):c.703C>T (p.Arg235Cys)	LOC126860531, NDRG1 (R235C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 917389	NM_006096.4(NDRG1):c.699-16C>G	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4D +3 more	GBenign/Likely benign