"GeneDx"[submitter] AND "LOC126805614"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
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 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 1268846	NM_001365951.3(KIF1B):c.2924+89T>C	KIF1B, LOC126805614	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262353	NM_001365951.3(KIF1B):c.2924+133A>G	KIF1B, LOC126805614	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292711	NM_001365951.3(KIF1B):c.2924+225T>C	KIF1B, LOC126805614	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar