"GeneDx"[submitter] AND "LOC129999168"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59715	GRCh38/hg38 7q31.2(chr7:115042242-116687714)x3	CAV1, CAV2 +48 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 1277614	NM_001753.5(CAV1):c.31-505G>A	CAV1, LOC129999168	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296536	NM_001753.5(CAV1):c.31-448_31-443dup	CAV1, LOC129999168	Duplication (intron variant)	not provided	GBenign
Select item 1209449	NM_001753.5(CAV1):c.31-207_31-204del	CAV1, LOC129999168	Deletion (intron variant)	not provided	GLikely benign
Select item 1275203	NM_001753.5(CAV1):c.31-179C>T	CAV1, LOC129999168	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar