"GeneDx"[submitter] AND "LOC130062795"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	ADNP2, ATP9B +373 more	Copy number loss	See cases	GPathogenic
Select item 60035	GRCh38/hg38 18q23(chr18:75843868-80209986)x1	ADNP2, ATP9B +154 more	Copy number loss	See cases	GPathogenic
Select item 152854	GRCh38/hg38 18q23(chr18:75875505-80252090)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 60037	GRCh38/hg38 18q23(chr18:78892487-80209986)x1	ADNP2, ATP9B +71 more	Copy number loss	See cases	GPathogenic
Select item 1244544	NM_001305563.2(TXNL4A):c.-60-10958C>T	TXNL4A, LOC130062795	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298010	NM_001305563.2(TXNL4A):c.-60-11000C>G	LOC130062795, TXNL4A	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar