"GeneDx"[submitter] AND "TPTE2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 151278	GRCh38/hg38 13q12.11(chr13:19283997-19479601)x3	LINC00421, TPTE2	Copy number gain	See cases	GLikely benign
Select item 145861	GRCh38/hg38 13q12.11(chr13:19452025-19555582)x1	LOC130009290, TPTE2	Copy number loss	See cases	GLikely benign
Select item 145860	GRCh38/hg38 13q12.11(chr13:19452025-19555582)x3	LOC130009290, TPTE2	Copy number gain	See cases	GBenign
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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