"Eurofins Ntd Llc (ga)"[submitter] AND "MPI"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282926	NM_002435.3(MPI):c.10C>T (p.Pro4Ser)	MPI (P4S)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 196348	NM_002435.3(MPI):c.303C>T (p.Leu101=)	MPI	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 94067	NM_002435.3(MPI):c.345+15G>A	MPI	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 94068	NM_002435.3(MPI):c.345+16C>T	MPI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 197744	NM_002435.3(MPI):c.576C>T (p.Ser192=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 285772	NM_002435.3(MPI):c.612T>G (p.Ser204Arg)	MPI (S204R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 94069	NM_002435.3(MPI):c.670+9A>G	MPI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 167304	NM_002435.3(MPI):c.677C>T (p.Ala226Val)	MPI (A226V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 94070	NM_002435.3(MPI):c.678C>A (p.Ala226=)	MPI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167305	NM_002435.3(MPI):c.684C>T (p.Asn228=)	MPI	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 500792	NM_002435.3(MPI):c.748G>A (p.Gly250Ser)	MPI (G250S +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 94071	NM_002435.3(MPI):c.762C>T (p.Ile254=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation +2 more	GBenign
Select item 94072	NM_002435.3(MPI):c.982C>T (p.Arg328Trp)	MPI (R328W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 94065	NM_002435.3(MPI):c.1049C>T (p.Thr350Met)	MPI (T350M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 94066	NM_002435.3(MPI):c.1131A>G (p.Val377=)	MPI	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign