"MPZL2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057272	NM_005797.4(MPZL2):c.*2A>C	MPZL2	Single nucleotide variant (3 prime UTR variant)	MPZL2-related disorder	GLikely benign
Select item 3040608	NM_005797.4(MPZL2):c.630T>C (p.Tyr210=)	MPZL2	Single nucleotide variant (synonymous variant)	MPZL2-related disorder	GLikely benign
Select item 3036552	NM_005797.4(MPZL2):c.603C>T (p.Leu201=)	MPZL2	Single nucleotide variant (synonymous variant)	MPZL2-related disorder	GLikely benign
Select item 3048028	NM_005797.4(MPZL2):c.423C>T (p.Ser141=)	MPZL2	Single nucleotide variant (synonymous variant)	MPZL2-related disorder	GLikely benign
Select item 3033516	NM_005797.4(MPZL2):c.416G>A (p.Arg139Gln)	MPZL2 (R139Q)	Single nucleotide variant (missense variant)	MPZL2-related disorder	GBenign
Select item 3057026	NM_005797.4(MPZL2):c.345C>T (p.Phe115=)	MPZL2	Single nucleotide variant (synonymous variant)	MPZL2-related disorder	GLikely benign
Select item 3032146	NM_005797.4(MPZL2):c.290G>A (p.Trp97Ter)	MPZL2 (W97*)	Single nucleotide variant (nonsense)	MPZL2-related disorder	GLikely pathogenic
Select item 2578670	NM_005797.4(MPZL2):c.278A>T (p.Asp93Val)	MPZL2 (D93V)	Single nucleotide variant (missense variant)	MPZL2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2403290	NM_005797.4(MPZL2):c.98G>A (p.Arg33Gln)	MPZL2 (R33Q)	Single nucleotide variant (missense variant)	MPZL2-related disorder +1 more	GUncertain significance
Select item 585268	NM_005797.4(MPZL2):c.72del (p.Ile24fs)	MPZL2 (I24fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3056265	NM_005797.4(MPZL2):c.27G>A (p.Ala9=)	MPZL2	Single nucleotide variant (synonymous variant)	MPZL2-related disorder	GLikely benign