"GeneDx"[submitter] AND "LOC129998502"[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 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 1326121	NM_016139.4(CHCHD2):c.50+104C>A	CHCHD2, LOC129998502	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249350	NM_016139.4(CHCHD2):c.50+87T>C	CHCHD2, LOC129998502	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275589	NM_016139.4(CHCHD2):c.-9T>G	CHCHD2, LOC129998502	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1271682	NM_016139.4(CHCHD2):c.-34C>A	CHCHD2, LOC129998502	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1326031	NC_000007.14:g.56106478A>C	CHCHD2, LOC129998502	Single nucleotide variant	not provided	GLikely benign
Select item 1706796	NM_016139.3(CHCHD2):c.-93C>A	CHCHD2, LOC129998502	Single nucleotide variant	not provided	GLikely benign

ClinVar