"Ambry Genetics"[submitter] AND "SCARB2"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 462921	NM_005506.4(SCARB2):c.1407G>A (p.Ala469=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2536034	NM_005506.4(SCARB2):c.1406C>T (p.Ala469Val)	SCARB2 (A469V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206720	NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile)	SCARB2 (T468I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 206719	NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)	SCARB2 (G462E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 420391	NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr)	SCARB2 (I442T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2495277	NM_005506.4(SCARB2):c.1316C>T (p.Pro439Leu)	SCARB2 (P296L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1769393	NM_005506.4(SCARB2):c.1300A>G (p.Ile434Val)	SCARB2 (I434V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1016817	NM_005506.4(SCARB2):c.1282A>G (p.Met428Val)	SCARB2 (M285V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 206705	NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln)	SCARB2 (R424Q +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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 588713	NM_005506.4(SCARB2):c.1255A>G (p.Lys419Glu)	SCARB2 (K419E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 797248	NM_005506.4(SCARB2):c.1245T>G (p.Val415=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 +4 more	GConflicting classifications of pathogenicity
Select item 857640	NM_005506.4(SCARB2):c.1208C>T (p.Thr403Ile)	SCARB2 (T403I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 259780	NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile)	SCARB2 (V396I +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 1729970	NM_005506.4(SCARB2):c.1137A>T (p.Ala379=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	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)	Inborn genetic diseases +2 more	GLikely benign
Select item 2623431	NM_005506.4(SCARB2):c.1059A>G (p.Ile353Met)	SCARB2 (I210M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 567752	NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val)	SCARB2 (I353V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 206715	NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr)	SCARB2 (M337T +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +3 more	GUncertain significance
Select item 588530	NM_005506.4(SCARB2):c.945G>C (p.Glu315Asp)	SCARB2 (E315D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 418468	NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn)	SCARB2 (D307N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 462929	NM_005506.4(SCARB2):c.915G>A (p.Thr305=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +2 more	GLikely benign
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 462928	NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser)	SCARB2 (N304S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1480648	NM_005506.4(SCARB2):c.881G>A (p.Arg294Gln)	SCARB2 (R151Q +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1057189	NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu)	SCARB2 (G146E +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 847922	NM_005506.4(SCARB2):c.863A>G (p.Gln288Arg)	SCARB2 (Q288R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 406875	NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)	SCARB2 (Y284S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1016299	NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu)	SCARB2 (D129E +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 1762023	NM_005506.4(SCARB2):c.810A>G (p.Pro270=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1060758	NM_005506.4(SCARB2):c.787G>C (p.Asp263His)	SCARB2 (D120H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 950433	NM_005506.4(SCARB2):c.709C>G (p.Leu237Val)	SCARB2 (L94V +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +3 more	GUncertain significance
Select item 2569906	NM_005506.4(SCARB2):c.634G>A (p.Asp212Asn)	SCARB2 (D212N)	Single nucleotide variant (missense variant +1 more)	SCARB2-related condition +1 more	GUncertain significance
Select item 1051325	NM_005506.4(SCARB2):c.612+5G>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 588992	NM_005506.4(SCARB2):c.582T>C (p.Asp194=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 589990	NM_005506.4(SCARB2):c.579C>T (p.Pro193=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 378504	NM_005506.4(SCARB2):c.567T>C (p.His189=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy +3 more	GBenign/Likely benign
Select item 641570	NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile)	SCARB2 (T172I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 498485	NM_005506.4(SCARB2):c.512A>C (p.His171Pro)	SCARB2 (H171P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 498488	NM_005506.4(SCARB2):c.509C>A (p.Thr170Asn)	SCARB2 (T170N)	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 provided +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)	Inborn genetic diseases +4 more	GBenign
Select item 206701	NM_005506.4(SCARB2):c.445G>A (p.Val149Met)	SCARB2 (V149M)	Single nucleotide variant (missense variant +1 more)	SCARB2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 7377	NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)	SCARB2 (W146fs)	Microsatellite (frameshift variant +1 more)	Action myoclonus-renal failure syndrome +3 more	GPathogenic
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 379302	NM_005506.4(SCARB2):c.424-4G>A	SCARB2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 385901	NM_005506.4(SCARB2):c.424-5C>T	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 462924	NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser)	SCARB2 (P128S)	Single nucleotide variant (intron variant +1 more)	Progressive myoclonic epilepsy +3 more	GUncertain significance
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 1021436	NM_005506.4(SCARB2):c.377G>C (p.Gly126Ala)	SCARB2 (G126A)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 138967	NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln)	SCARB2 (R121Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 2227733	NM_005506.4(SCARB2):c.295A>G (p.Asn99Asp)	SCARB2 (N99D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 383677	NM_005506.4(SCARB2):c.291A>G (p.Lys97=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	SCARB2-related condition +3 more	GLikely benign
Select item 206724	NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys)	SCARB2 (E93K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 195245	NM_005506.4(SCARB2):c.246G>C (p.Arg82=)	SCARB2	Single nucleotide variant (synonymous variant)	SCARB2-related condition +5 more	GBenign/Likely benign
Select item 579188	NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe)	SCARB2 (I75F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1445336	NM_005506.4(SCARB2):c.203A>G (p.Asn68Ser)	SCARB2 (N68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1778106	NM_005506.4(SCARB2):c.168C>T (p.Pro56=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 516610	NM_005506.4(SCARB2):c.93G>A (p.Lys31=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 2313064	NM_005506.4(SCARB2):c.83T>A (p.Val28Asp)	SCARB2 (V28D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206722	NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln)	SCARB2 (R27Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 138970	NM_005506.4(SCARB2):c.48G>C (p.Leu16=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
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

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Items: 67