"GeneDx"[submitter] AND "LOC130066945"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 59280	GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3	DGCR6, FAM230A +29 more	Copy number gain	See cases	GPathogenic
Select item 384315	NM_018943.3(TUBA8):c.-7G>C	LOC130066945, TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1198662	NM_018943.3(TUBA8):c.3+48G>A	LOC130066945, TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar