"Baylor Genetics"[submitter] AND "LOC129391064"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241883	NM_000528.4(MAN2B1):c.1419+1G>A	LOC129391064, MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 661591	NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)	LOC129391064, MAN2B1 (W469fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 848454	NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)	LOC129391064, MAN2B1 (R462fs +1 more)	Microsatellite (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 281152	NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)	LOC129391064, MAN2B1 (Y461* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 189068	NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)	LOC129391064, MAN2B1 (Y461* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 3241887	NM_000528.4(MAN2B1):c.1379del (p.Asp460fs)	LOC129391064, MAN2B1 (D459fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 208266	NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)	LOC129391064, MAN2B1 (G451C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GPathogenic

ClinVar