"GeneDx"[submitter] AND "PPM1E"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 152571	GRCh38/hg38 17q22(chr17:58940516-59008749)x3	LOC126862606, LOC129390904 +2 more	Copy number gain	See cases	GLikely benign
Select item 1197064	NM_001005207.5(TRIM37):c.2892-24G>A	PPM1E, TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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