"GeneDx"[submitter] AND "LOC126861705"[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 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
Select item 152617	GRCh38/hg38 13q12.11(chr13:20234405-20443962)x1	CRYL1, LOC126861704 +7 more	Copy number loss	See cases	GLikely benign
Select item 57616	GRCh38/hg38 13q12.11(chr13:20249154-20521759)x1	CRYL1, LOC112163647 +10 more	Copy number loss	See cases	GPathogenic
Select item 1242658	NM_015974.3(CRYL1):c.634-5733C>T	CRYL1, LOC126861705	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267180	NM_015974.3(CRYL1):c.634-5968T>C	CRYL1, LOC126861705	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar