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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 347083	NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)	MANBA (R766W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 281676	NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys)	MANBA (Y477C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1411544	NM_005908.4(MANBA):c.1131G>C (p.Gln377His)	MANBA (Q377H)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +1 more	GUncertain significance
Select item 900300	NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)	MANBA (I358V)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +1 more	GUncertain significance
Select item 1676	NM_005908.4(MANBA):c.960+1G>A	MANBA	Single nucleotide variant (splice donor variant)	Beta-D-mannosidosis +1 more	GPathogenic/Likely pathogenic
Select item 1677	NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer)	MANBA	Duplication (nonsense +1 more)	Beta-D-mannosidosis	GPathogenic
Select item 1064618	NM_005908.4(MANBA):c.549+1G>A	MANBA	Single nucleotide variant (splice donor variant)	Beta-D-mannosidosis	GLikely pathogenic

ClinVar