"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MAN1B1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 913497	NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg)	LOC130003079, MAN1B1 (S55R)	Single nucleotide variant (non-coding transcript variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 435802	NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)	MAN1B1 (I102L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 365967	NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val)	MAN1B1 (M546V)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome +2 more	GUncertain significance
Select item 435808	NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)	MAN1B1 (G581D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 129576	NM_016219.5(MAN1B1):c.1932C>T (p.Val644=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 129571	NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)	MAN1B1 (D674N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

ClinVar