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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202248	NM_002435.3(MPI):c.14G>T (p.Arg5Leu)	MPI (R5L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305108	NM_002435.3(MPI):c.190A>C (p.Asn64His)	MPI (N44H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617874	NM_002435.3(MPI):c.269T>G (p.Phe90Cys)	MPI (F70C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2144292	NM_002435.3(MPI):c.530C>T (p.Thr177Ile)	MPI (T157I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3295701	NM_002435.3(MPI):c.600C>A (p.His200Gln)	MPI (H200Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485328	NM_002435.3(MPI):c.713T>G (p.Leu238Trp)	MPI (L177W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 888217	NM_002435.3(MPI):c.818A>G (p.Asn273Ser)	MPI (N223S +3 more)	Single nucleotide variant (missense variant)	MPI-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2473641	NM_002435.3(MPI):c.820G>A (p.Val274Ile)	MPI (V274I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338295	NM_002435.3(MPI):c.1018C>G (p.Pro340Ala)	MPI (P290A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493367	NM_002435.3(MPI):c.1079A>G (p.Lys360Arg)	MPI (K299R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 989851	NM_002435.3(MPI):c.1122G>C (p.Gln374His)	MPI (Q313H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519332	NM_002435.3(MPI):c.1202A>G (p.Asn401Ser)	MPI (N351S +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance