"GeneDx"[submitter] AND "MPO"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 3632	NM_000250.2(MPO):c.2031-2A>C	LPO, MPO	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3626	NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	LOC106694316, MPO (R569W)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +2 more	GPathogenic/Likely pathogenic
Select item 452406	NM_000250.2(MPO):c.1621+2T>C	LOC106694316, MPO	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3629	NM_000250.2(MPO):c.1555_1568del (p.Met519fs)	LOC106694316, MPO (M519fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 452644	NM_000250.2(MPO):c.1281del (p.Thr428fs)	LOC106694316, MPO (T428fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 489145	NM_000250.2(MPO):c.604G>T (p.Glu202Ter)	MPO (E202*)	Single nucleotide variant (nonsense)	Alzheimer disease type 1 +2 more	GConflicting classifications of pathogenicity
Select item 3627	NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)	MPO (Y173C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 453114	NM_000250.2(MPO):c.110T>C (p.Leu37Pro)	LOC106694315, MPO (L37P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic