"GeneDx"[submitter] AND "LOC129992612"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 1238673	NC_000004.12:g.55395763C>G	LOC129992612, TMEM165	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1233241	NC_000004.12:g.55395772G>A	LOC129992612, TMEM165	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1237019	NC_000004.12:g.55395832C>T	LOC129992612, TMEM165	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1266197	NC_000004.12:g.55395855G>A	LOC129992612, TMEM165	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

ClinVar