"GeneDx"[submitter] AND "MAN2A2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 1227165	NM_006122.4(MAN2A2):c.72C>T (p.Leu24=)	LOC130057949, MAN2A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1225768	NM_006122.4(MAN2A2):c.1235A>G (p.Gln412Arg)	MAN2A2 (Q412R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1287755	NM_006122.4(MAN2A2):c.1794C>T (p.Val598=)	MAN2A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1287649	NM_006122.4(MAN2A2):c.2158C>T (p.Leu720=)	MAN2A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

ClinVar