ClinVar for MedGen (Select 462340) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1911686	NM_002979.5(SCP2):c.588dup	SCP2	Duplication (genic upstream transcript variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1610163	NM_002979.5(SCP2):c.973+15T>G	SCP2	Single nucleotide variant (intron variant)	Sterol carrier protein 2 deficiency +1 more	GLikely benign
Select item 1050589	NM_002979.5(SCP2):c.572A>G (p.His191Arg)	SCP2 (H110R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033966	NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter)	SCP2 (Q371* +3 more)	Single nucleotide variant (nonsense)	Sterol carrier protein 2 deficiency +1 more	GPathogenic
Select item 977231	NM_002979.5(SCP2):c.886C>T (p.Pro296Ser)	SCP2 (P215S +3 more)	Single nucleotide variant (missense variant)	Sterol carrier protein 2 deficiency	GUncertain significance
Select item 801491	NM_002979.5(SCP2):c.70-47del	SCP2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 594561	NM_002979.5(SCP2):c.1234A>G (p.Ser412Gly)	SCP2 (S412G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585030	NM_002979.5(SCP2):c.825G>T (p.Met275Ile)	SCP2 (M275I +3 more)	Single nucleotide variant (missense variant)	Sterol carrier protein 2 deficiency	Gnot provided
Select item 488590	NM_002979.5(SCP2):c.825+1G>T	SCP2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12810	NM_002979.5(SCP2):c.550dup (p.Ile184fs)	SCP2 (I103fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic