"GeneDx"[submitter] AND "LOC129935046"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 331818	NM_024753.5(TTC21B):c.*105G>A	LOC129935046, TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +2 more	GBenign

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