"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93215	NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)	MAN2B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 764269	NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)	MAN2B1	Single nucleotide variant (synonymous variant)	MAN2B1-related condition +1 more	GBenign/Likely benign
Select item 558860	NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)	MAN2B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 785313	NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)	MAN2B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 527128	NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 786566	NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)	MAN2B1	Single nucleotide variant (synonymous variant)	MAN2B1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 328274	NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)	MAN2B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 558862	NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)	MAN2B1 (P282S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 197684	NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)	MAN2B1 (P248L)	Single nucleotide variant (missense variant)	MAN2B1-related condition +3 more	GConflicting classifications of pathogenicity