"GeneDx"[submitter] AND "LOC130063648"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 546171	NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)	MAN2B1, LOC130063648 (L915P +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GConflicting classifications of pathogenicity
Select item 1309730	NM_000528.4(MAN2B1):c.2716G>C (p.Ala906Pro)	LOC130063648, MAN2B1 (A905P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363433	NM_000528.4(MAN2B1):c.2705T>G (p.Leu902Arg)	LOC130063648, MAN2B1 (L901R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328255	NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)	LOC130063648, MAN2B1 (H901N +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GUncertain significance

ClinVar