"GeneDx"[submitter] AND "PITRM1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 1300268	NM_014889.4(PITRM1):c.1861G>A (p.Val621Ile)	PITRM1 (V186I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1249086	NM_014889.4(PITRM1):c.1136+9A>G	PITRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic

ClinVar