"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MPI"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 885951	NM_002435.3(MPI):c.-5C>T	MPI	Single nucleotide variant (5 prime UTR variant)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 663264	NM_002435.3(MPI):c.61A>G (p.Met21Val)	MPI (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 966402	NM_002435.3(MPI):c.167G>A (p.Arg56Gln)	MPI (R6Q +2 more)	Single nucleotide variant (missense variant)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 14346	NM_002435.3(MPI):c.305C>T (p.Ser102Leu)	MPI (S102L +2 more)	Single nucleotide variant (missense variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 420435	NM_002435.3(MPI):c.345+15_345+16delinsAT	MPI	Indel (intron variant)	MPI-congenital disorder of glycosylation +1 more	GLikely benign
Select item 371556	NM_002435.3(MPI):c.488-1G>C	MPI	Single nucleotide variant (splice acceptor variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 989845	NM_002435.3(MPI):c.628G>A (p.Val210Met)	MPI (V160M +2 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 14345	NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	MPI (R219Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 14349	NM_002435.3(MPI):c.884G>A (p.Arg295His)	MPI (R295H +3 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 888218	NM_002435.3(MPI):c.902A>G (p.Lys301Arg)	MPI (K251R +3 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 94065	NM_002435.3(MPI):c.1049C>T (p.Thr350Met)	MPI (T350M +3 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 989853	NM_002435.3(MPI):c.1232C>T (p.Pro411Leu)	MPI (P350L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 887016	NM_002435.3(MPI):c.*129G>C	MPI	Single nucleotide variant (3 prime UTR variant)	MPI-congenital disorder of glycosylation	GUncertain significance