"GeneDx"[submitter] AND "LOC126805632"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 1272499	NM_003443.3(ZBTB17):c.2129-37G>A	LOC126805632, ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183759	NM_003443.3(ZBTB17):c.1828+76dup	LOC126805632, ZBTB17	Duplication (intron variant)	not provided	GBenign
Select item 1286770	NM_003443.3(ZBTB17):c.1698-48G>A	LOC126805632, ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar