"GeneDx"[submitter] AND "SCARB2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 1247776	NM_005506.4(SCARB2):c.*117G>A	SCARB2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224708	NM_005506.4(SCARB2):c.*67C>G	SCARB2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2536034	NM_005506.4(SCARB2):c.1406C>T (p.Ala469Val)	SCARB2 (A469V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206720	NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile)	SCARB2 (T468I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 670900	NM_005506.4(SCARB2):c.1399-169_1399-167del	SCARB2	Microsatellite (intron variant)	not provided	GBenign
Select item 1236617	NM_005506.4(SCARB2):c.1399-178T>A	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190487	NM_005506.4(SCARB2):c.1399-206A>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673157	NM_005506.4(SCARB2):c.1399-220G>T	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668971	NM_005506.4(SCARB2):c.1399-280C>T	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420325	NM_005506.4(SCARB2):c.1398+10_1398+22del	SCARB2	Deletion (intron variant)	Progressive myoclonic epilepsy +1 more	GLikely benign
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 429598	NM_005506.4(SCARB2):c.1365G>A (p.Trp455Ter)	SCARB2 (W455* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 206723	NM_005506.4(SCARB2):c.1337del (p.Gly446fs)	SCARB2 (G303fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 656047	NM_005506.4(SCARB2):c.1327A>G (p.Met443Val)	SCARB2 (M300V +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 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 385047	NM_005506.4(SCARB2):c.1273C>T (p.Leu425=)	SCARB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 206705	NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln)	SCARB2 (R424Q +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +3 more	GUncertain significance
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 516303	NM_005506.4(SCARB2):c.1240-18A>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 668552	NM_005506.4(SCARB2):c.1240-20C>T	SCARB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259294	NM_005506.4(SCARB2):c.1240-53A>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
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 388048	NM_005506.4(SCARB2):c.1194G>A (p.Thr398=)	SCARB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 418469	NM_005506.4(SCARB2):c.1188-11del	SCARB2	Deletion (intron variant)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 1268392	NM_005506.4(SCARB2):c.1188-250C>A	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187762	NM_005506.4(SCARB2):c.1188-259C>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224854	NM_005506.4(SCARB2):c.1187+245C>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674470	NM_005506.4(SCARB2):c.1187+95T>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291075	NM_005506.4(SCARB2):c.1187+81C>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670737	NM_005506.4(SCARB2):c.1187+57G>A	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
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 509512	NM_005506.4(SCARB2):c.1187+12T>C	SCARB2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 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 668981	NM_005506.4(SCARB2):c.1114-299G>C	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138968	NM_005506.4(SCARB2):c.1113+14T>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +2 more	GBenign
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 577732	NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr)	SCARB2 (M356T +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
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 268142	NM_005506.4(SCARB2):c.1016dup (p.His341fs)	SCARB2 (H198fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
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 451980	NM_005506.4(SCARB2):c.995-7A>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1222831	NM_005506.4(SCARB2):c.995-53_995-49del	SCARB2	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 1190476	NM_005506.4(SCARB2):c.995-79G>A	SCARB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671753	NM_005506.4(SCARB2):c.994+280A>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673156	NM_005506.4(SCARB2):c.994+249T>C	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249623	NM_005506.4(SCARB2):c.994+154T>C	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178406	NM_005506.4(SCARB2):c.994+82G>A	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291528	NM_005506.4(SCARB2):c.994+48G>C	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291068	NM_005506.4(SCARB2):c.994+26T>C	SCARB2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 507039	NM_005506.4(SCARB2):c.927C>T (p.Ala309=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 206714	NM_005506.4(SCARB2):c.920A>C (p.Asp307Ala)	SCARB2 (D307A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 462929	NM_005506.4(SCARB2):c.915G>A (p.Thr305=)	SCARB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 518162	NM_005506.4(SCARB2):c.904T>C (p.Leu302=)	SCARB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 381110	NM_005506.4(SCARB2):c.897A>G (p.Ala299=)	SCARB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 206713	NM_005506.4(SCARB2):c.880C>T (p.Arg294Trp)	SCARB2 (R294W +1 more)	Single nucleotide variant (missense variant)	not provided	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 3378008	NM_005506.4(SCARB2):c.851A>G (p.Tyr284Cys)	SCARB2 (Y141C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 450286	NM_005506.4(SCARB2):c.826T>G (p.Ser276Ala)	SCARB2 (S276A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1243716	NM_005506.4(SCARB2):c.825-108G>A	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295819	NM_005506.4(SCARB2):c.825-123C>T	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220802	NM_005506.4(SCARB2):c.824+258C>T	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271221	NM_005506.4(SCARB2):c.824+167A>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293564	NM_005506.4(SCARB2):c.824+101G>A	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 509942	NM_005506.4(SCARB2):c.705-20C>G	SCARB2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1250634	NM_005506.4(SCARB2):c.705-74A>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234940	NM_005506.4(SCARB2):c.705-126G>A	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223811	NM_005506.4(SCARB2):c.705-183G>T	SCARB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669877	NM_005506.4(SCARB2):c.704+254G>A	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669323	NM_005506.4(SCARB2):c.704+217T>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386795	NM_005506.4(SCARB2):c.704+17A>G	SCARB2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 268141	NM_005506.4(SCARB2):c.704+5G>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 1263562	NM_005506.4(SCARB2):c.613-77A>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668980	NM_005506.4(SCARB2):c.613-270C>T	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240994	NM_005506.4(SCARB2):c.612+227T>C	SCARB2	Single nucleotide variant (intron variant)	not provided	GBenign
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 462926	NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)	SCARB2 (D194N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 1314176	NM_005506.4(SCARB2):c.545A>G (p.Asp182Gly)	SCARB2 (D182G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 287116	NM_005506.4(SCARB2):c.486C>T (p.Ala162=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 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 513689	NM_005506.4(SCARB2):c.468C>T (p.Ile156=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 206701	NM_005506.4(SCARB2):c.445G>A (p.Val149Met)	SCARB2 (V149M)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2154426	NM_005506.4(SCARB2):c.440C>T (p.Ser147Phe)	SCARB2 (S147F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 449287	NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu)	SCARB2 (I144L)	Single nucleotide variant (missense variant +1 more)	Action myoclonus-renal failure syndrome +3 more	GConflicting classifications of pathogenicity
Select item 379302	NM_005506.4(SCARB2):c.424-4G>A	SCARB2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1267324	NM_005506.4(SCARB2):c.424-43T>C	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +1 more	GBenign

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