"Ambry Genetics"[submitter] AND "MPC1"[gene] - ClinVar - NCBI

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

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2237968	NM_016098.4(MPC1):c.320C>T (p.Ala107Val)	MPC1 (A107V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1419967	NM_016098.4(MPC1):c.304G>A (p.Glu102Lys)	MPC1 (E59K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 974695	NM_016098.4(MPC1):c.301C>T (p.His101Tyr)	MPC1 (H101Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1380961	NM_016098.4(MPC1):c.227G>A (p.Arg76Gln)	MPC1 (R33Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File