"PreventionGenetics, part of Exact Sciences"[submitter] AND "CAV1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034599	NM_001753.4(CAV1):c.-94T>C	CAV1	Single nucleotide variant	CAV1-related disorder	GLikely benign
Select item 3031175	NM_001753.4(CAV1):c.-88delC	CAV1	Deletion	CAV1-related disorder	GUncertain significance
Select item 2663785	NM_001753.5(CAV1):c.284C>T (p.Thr95Met)	CAV1 (T64M +1 more)	Single nucleotide variant (missense variant)	CAV1-related disorder +1 more	GUncertain significance
Select item 2631155	NM_001753.5(CAV1):c.396dup (p.Cys133fs)	CAV1 (C102fs +1 more)	Duplication (frameshift variant)	CAV1-related disorder	GLikely pathogenic
Select item 695522	NM_001753.5(CAV1):c.463G>A (p.Val155Ile)	CAV1 (V155I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 700514	NM_001753.5(CAV1):c.533T>A (p.Ile178Lys)	CAV1 (I178K +1 more)	Single nucleotide variant (missense variant)	CAV1-related disorder +1 more	GLikely benign

ClinVar