"Revvity Omics, Revvity"[submitter] AND "MANBA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325622	NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile)	MANBA (T736I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 901952	NM_005908.4(MANBA):c.1913G>A (p.Arg638His)	MANBA (R638H)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GConflicting classifications of pathogenicity
Select item 1028958	NM_005908.4(MANBA):c.1382C>T (p.Ala461Val)	MANBA (A461V)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 1914879	NM_005908.4(MANBA):c.1118G>A (p.Arg373Gln)	MANBA (R373Q)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 1324696	NM_005908.4(MANBA):c.544C>T (p.Arg182Trp)	MANBA (R182W)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GLikely pathogenic
Select item 1028959	NM_005908.4(MANBA):c.177+2T>C	LOC129992886, MANBA	Single nucleotide variant (splice donor variant)	Beta-D-mannosidosis	GPathogenic/Likely pathogenic

ClinVar