"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206705	NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln)	SCARB2 (R424Q +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +3 more	GUncertain significance
Select item 206701	NM_005506.4(SCARB2):c.445G>A (p.Val149Met)	SCARB2 (V149M)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 449287	NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu)	SCARB2 (I144L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 196412	NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)	SCARB2 (P128A)	Single nucleotide variant (missense variant +1 more)	SCARB2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 206709	NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)	SCARB2 (R121*)	Single nucleotide variant (nonsense +1 more)	Progressive myoclonic epilepsy +2 more	GPathogenic/Likely pathogenic
Select item 590041	NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe)	SCARB2 (S13F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

ClinVar