"PreventionGenetics, part of Exact Sciences"[submitter] AND "SCARB2"[g - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 657220	NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)	SCARB2 (M404V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 259780	NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile)	SCARB2 (V396I +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +4 more	GBenign
Select item 138968	NM_005506.4(SCARB2):c.1113+14T>A	SCARB2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 406875	NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)	SCARB2 (Y284S +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 2569906	NM_005506.4(SCARB2):c.634G>A (p.Asp212Asn)	SCARB2 (D212N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 287116	NM_005506.4(SCARB2):c.486C>T (p.Ala162=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 206702	NM_005506.4(SCARB2):c.475A>G (p.Met159Val)	SCARB2 (M159V)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +4 more	GBenign
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 385901	NM_005506.4(SCARB2):c.424-5C>T	SCARB2	Single nucleotide variant (intron variant)	SCARB2-related disorder +4 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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 138967	NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln)	SCARB2 (R121Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 383677	NM_005506.4(SCARB2):c.291A>G (p.Lys97=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy +3 more	GLikely benign
Select item 378502	NM_005506.4(SCARB2):c.276-7C>G	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +3 more	GLikely benign
Select item 1621731	NM_005506.4(SCARB2):c.275+7C>T	SCARB2	Single nucleotide variant (intron variant)	SCARB2-related disorder +1 more	GBenign/Likely benign
Select item 195245	NM_005506.4(SCARB2):c.246G>C (p.Arg82=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 517772	NM_005506.4(SCARB2):c.228C>G (p.Leu76=)	SCARB2	Single nucleotide variant (synonymous variant)	SCARB2-related disorder +2 more	GLikely benign
Select item 462922	NM_005506.4(SCARB2):c.228C>T (p.Leu76=)	SCARB2	Single nucleotide variant (synonymous variant)	Action myoclonus-renal failure syndrome +2 more	GLikely benign
Select item 259781	NM_005506.4(SCARB2):c.171T>C (p.Pro57=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +2 more	GBenign/Likely benign
Select item 138970	NM_005506.4(SCARB2):c.48G>C (p.Leu16=)	SCARB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259782	NM_005506.4(SCARB2):c.33G>T (p.Thr11=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +3 more	GBenign/Likely benign

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Items: 20