"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SCARB2"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1053433	NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser)	SCARB2 (R329S +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 582195	NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val)	SCARB2 (E471V +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 1003116	NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro)	SCARB2 (A314P +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 943859	NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val)	SCARB2 (A301V +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 206717	NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr)	SCARB2 (M443T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 420391	NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr)	SCARB2 (I442T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 268146	NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)	SCARB2 (R424* +1 more)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy +2 more	GPathogenic
Select item 206716	NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met)	SCARB2 (T421M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1449959	NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val)	SCARB2 (I274V +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +1 more	GUncertain significance
Select item 138969	NM_005506.4(SCARB2):c.1239+14C>T	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +2 more	GBenign
Select item 657220	NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)	SCARB2 (M404V +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +3 more	GUncertain significance
Select item 516443	NM_005506.4(SCARB2):c.1187+18C>T	SCARB2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 199108	NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val)	SCARB2 (A379V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 702543	NM_005506.4(SCARB2):c.1116G>A (p.Leu372=)	SCARB2	Single nucleotide variant (synonymous variant)	Action myoclonus-renal failure syndrome +2 more	GLikely benign
Select item 389506	NM_005506.4(SCARB2):c.1089T>C (p.His363=)	SCARB2	Single nucleotide variant (synonymous variant)	Action myoclonus-renal failure syndrome +2 more	GLikely benign
Select item 969773	NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys)	SCARB2 (E347K +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 206715	NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr)	SCARB2 (M337T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1179028	NM_005506.4(SCARB2):c.994+2T>C	SCARB2	Single nucleotide variant (splice donor variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 418468	NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn)	SCARB2 (D307N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 588761	NM_005506.4(SCARB2):c.914C>T (p.Thr305Met)	SCARB2 (T305M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1057189	NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu)	SCARB2 (G146E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 7378	NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)	SCARB2 (Q288* +1 more)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy +2 more	GPathogenic
Select item 406875	NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)	SCARB2 (Y284S +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +3 more	GConflicting classifications of pathogenicity
Select item 515840	NM_005506.4(SCARB2):c.824+20G>A	SCARB2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1016299	NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu)	SCARB2 (D129E +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +2 more	GUncertain significance
Select item 1019841	NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu)	SCARB2 (F113L +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +1 more	GUncertain significance
Select item 206712	NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser)	SCARB2 (N249S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 206703	NM_005506.4(SCARB2):c.704+16T>C	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +2 more	GBenign/Likely benign
Select item 963097	NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys)	SCARB2 (Y198C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 378504	NM_005506.4(SCARB2):c.567T>C (p.His189=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 206710	NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys)	SCARB2 (E175K)	Single nucleotide variant (missense variant +1 more)	Action myoclonus-renal failure syndrome +2 more	GUncertain significance
Select item 1536329	NM_005506.4(SCARB2):c.522C>T (p.Asp174=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Action myoclonus-renal failure syndrome +1 more	GLikely benign
Select item 7377	NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)	SCARB2 (W146fs)	Microsatellite (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 385901	NM_005506.4(SCARB2):c.424-5C>T	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +3 more	GConflicting classifications of pathogenicity
Select item 462924	NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser)	SCARB2 (P128S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 531810	NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe)	SCARB2 (L94F)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +3 more	GUncertain significance
Select item 206724	NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys)	SCARB2 (E93K)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 378502	NM_005506.4(SCARB2):c.276-7C>G	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +2 more	GLikely benign
Select item 1608997	NM_005506.4(SCARB2):c.276-17C>T	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +1 more	GLikely benign
Select item 378501	NM_005506.4(SCARB2):c.275+20T>C	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +2 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 +4 more	GBenign/Likely benign
Select item 462923	NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp)	SCARB2 (R82W)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +1 more	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
Select item 462922	NM_005506.4(SCARB2):c.228C>T (p.Leu76=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 206708	NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys)	SCARB2 (Y65C)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +2 more	GUncertain significance
Select item 259781	NM_005506.4(SCARB2):c.171T>C (p.Pro57=)	SCARB2	Single nucleotide variant (synonymous variant)	Action myoclonus-renal failure syndrome +2 more	GBenign/Likely benign
Select item 591897	NM_005506.4(SCARB2):c.170C>T (p.Pro57Leu)	SCARB2 (P57L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1594476	NM_005506.4(SCARB2):c.117+19T>C	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +1 more	GLikely benign
Select item 665661	NM_005506.4(SCARB2):c.117G>A (p.Lys39=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 516610	NM_005506.4(SCARB2):c.93G>A (p.Lys31=)	SCARB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1041387	NM_005506.4(SCARB2):c.65C>T (p.Thr22Met)	SCARB2 (T22M)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +1 more	GUncertain significance
Select item 590041	NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe)	SCARB2 (S13F)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +2 more	GUncertain significance
Select item 259782	NM_005506.4(SCARB2):c.33G>T (p.Thr11=)	SCARB2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1062169	NM_005506.4(SCARB2):c.24G>A (p.Thr8=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity

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Items: 54