"GeneDx"[submitter] AND "LOC129998402"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic
Select item 1238867	NM_021116.4(ADCY1):c.234C>G (p.Ala78=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1317252	NM_021116.4(ADCY1):c.248C>T (p.Ala83Val)	ADCY1, LOC129998402 (A83V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1317902	NM_021116.4(ADCY1):c.258C>G (p.Pro86=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign

ClinVar