Related gene-specific medical variations for Gene (Select 950) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433153	NM_005506.4(SCARB2):c.1114-2A>G	SCARB2	Single nucleotide variant (splice acceptor variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 1323553	NM_005506.4(SCARB2):c.1240_1241delAG (p.Ser414fs)	SCARB2 (S271fs +1 more)	Deletion (frameshift variant +1 more)	Action myoclonus-renal failure syndrome	GPathogenic
Select item 1226917	NM_005506.4(SCARB2):c.275+132C>T	LOC129992691, SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 591411	NM_005506.4(SCARB2):c.950del (p.Asn317fs)	SCARB2 (N174fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591241	NM_005506.4(SCARB2):c.265T>C (p.Tyr89His)	SCARB2 (Y89H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591076	NM_005506.4(SCARB2):c.757G>A (p.Gly253Arg)	SCARB2 (G253R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 235353	NM_005506.4(SCARB2):c.241C>T (p.Pro81Ser)	SCARB2 (P81S)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +1 more	GUncertain significance

ClinVar