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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59011	GRCh38/hg38 21q22.11(chr21:31339386-32311519)x1	HUNK, LINC00159 +27 more	Copy number loss	See cases	GPathogenic
Select item 423392	NM_001379228.1(MRAP):c.206+5G>T	LOC125418060, MRAP +1 more	Single nucleotide variant (intron variant)	MRAP-related disorder +1 more	GLikely pathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253448	GRCh37/hg19 21q22.11(chr21:32578640-35060092)x1	C21orf62, IFNAR1 +24 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

ClinVar