"GeneDx"[submitter] AND "MRM2"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 1342152	NM_013393.3(MRM2):c.242C>T (p.Ala81Val)	MRM2 (A81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498064	NM_013393.3(MRM2):c.128T>C (p.Phe43Ser)	MRM2 (F43S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253802	GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4	CYP2W1, PSMG3 +25 more	Copy number gain	See cases	GUncertain significance

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