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 1684642	NC_000004.12:g.67833055_82716065del	CXCL11, LOC123477757 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 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 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992733, LOC129992734 +236 more	Copy number loss	See cases	GPathogenic
Select item 57365	GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1	ART3, CXCL10 +16 more	Copy number loss	See cases	GUncertain significance
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 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 583450	NC_000004.11:g.(?_77082846)_(77102274_?)dup	LOC129992690, SCARB2	Duplication	Progressive myoclonic epilepsy	GUncertain significance
Select item 1476115	NM_005506.4(SCARB2):c.1433C>A (p.Thr478Asn)	SCARB2 (T335N +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1385164	NM_005506.4(SCARB2):c.1432del (p.Thr478fs)	SCARB2 (T335fs +1 more)	Deletion (frameshift variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1381566	NM_005506.4(SCARB2):c.1430G>A (p.Arg477Gln)	SCARB2 (R477Q +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1150611	NM_005506.4(SCARB2):c.1425C>T (p.Leu475=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
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 268148	NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly)	SCARB2 (E471G +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome	Gnot provided
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 1152365	NM_005506.4(SCARB2):c.1399-8T>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 753311	NM_005506.4(SCARB2):c.1399-10T>G	SCARB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1347256	NM_005506.4(SCARB2):c.1399-11C>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2803684	NM_005506.4(SCARB2):c.1399-13T>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1969033	NM_005506.4(SCARB2):c.1399-15T>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2893212	NM_005506.4(SCARB2):c.1399-16C>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
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 1659527	NM_005506.4(SCARB2):c.1398+14dup	SCARB2	Duplication (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1541187	NM_005506.4(SCARB2):c.1398+8C>T	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1086323	NM_005506.4(SCARB2):c.1398+8C>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1399768	NM_005506.4(SCARB2):c.1393G>A (p.Asp465Asn)	SCARB2 (D322N +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 268147	NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs)	SCARB2 (G462fs +1 more)	Indel (frameshift variant)	Action myoclonus-renal failure syndrome	Gnot provided
Select item 799267	NM_005506.4(SCARB2):c.1386A>T (p.Gly462=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 206719	NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)	SCARB2 (G462E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 566187	NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs)	SCARB2 (Q318fs +1 more)	Deletion (frameshift variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2173951	NM_005506.4(SCARB2):c.1378G>A (p.Gly460Arg)	SCARB2 (G460R +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 658194	NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe)	SCARB2 (C315F +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1982988	NM_005506.4(SCARB2):c.1371A>C (p.Ala457=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2090191	NM_005506.4(SCARB2):c.1369G>A (p.Ala457Thr)	SCARB2 (A457T +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	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 1499924	NM_005506.4(SCARB2):c.1365G>C (p.Trp455Cys)	SCARB2 (W312C +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
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 955492	NM_005506.4(SCARB2):c.1339G>C (p.Val447Leu)	SCARB2 (V447L +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 206723	NM_005506.4(SCARB2):c.1337del (p.Gly446fs)	SCARB2 (G303fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1102721	NM_005506.4(SCARB2):c.1332G>A (p.Ala444=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 943859	NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val)	SCARB2 (A301V +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +1 more	GUncertain significance
Select item 1395820	NM_005506.4(SCARB2):c.1329G>A (p.Met443Ile)	SCARB2 (M443I +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 206717	NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr)	SCARB2 (M443T +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +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)	not provided +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)	not provided +3 more	GUncertain significance
Select item 2066434	NM_005506.4(SCARB2):c.1319A>G (p.Tyr440Cys)	SCARB2 (Y440C +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1091191	NM_005506.4(SCARB2):c.1317C>G (p.Pro439=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
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 1974530	NM_005506.4(SCARB2):c.1313T>C (p.Ile438Thr)	SCARB2 (I295T +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1929378	NM_005506.4(SCARB2):c.1312A>G (p.Ile438Val)	SCARB2 (I295V +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1043421	NM_005506.4(SCARB2):c.1307C>T (p.Thr436Ile)	SCARB2 (T293I +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 3011921	NM_005506.4(SCARB2):c.1305C>T (p.Ile435=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 656518	NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met)	SCARB2 (I291M +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	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 1447368	NM_005506.4(SCARB2):c.1283T>C (p.Met428Thr)	SCARB2 (M428T +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	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 2908702	NM_005506.4(SCARB2):c.1275G>A (p.Leu425=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
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 268146	NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)	SCARB2 (R424* +1 more)	Single nucleotide variant (nonsense)	Action myoclonus-renal failure syndrome +2 more	GPathogenic
Select item 698277	NM_005506.4(SCARB2):c.1266G>A (p.Ala422=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 531799	NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val)	SCARB2 (A422V +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1161910	NM_005506.4(SCARB2):c.1263G>A (p.Thr421=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2005737	NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)	SCARB2 (T278fs +1 more)	Microsatellite (frameshift variant)	Progressive myoclonic epilepsy	GPathogenic
Select item 206716	NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met)	SCARB2 (T421M +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +3 more	GUncertain significance
Select item 30258	NM_005506.4(SCARB2):c.1258del (p.Glu420fs)	SCARB2 (E420fs +1 more)	Deletion (frameshift variant)	Action myoclonus-renal failure syndrome	GPathogenic
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 1961450	NM_005506.4(SCARB2):c.1249A>T (p.Ile417Phe)	SCARB2 (I274F +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1449959	NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val)	SCARB2 (I274V +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	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 2881542	NM_005506.4(SCARB2):c.1242T>C (p.Ser414=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1457299	NC_000004.12:g.76163382CT[1]	SCARB2	Microsatellite	Progressive myoclonic epilepsy	GPathogenic
Select item 1323553	NM_005506.4(SCARB2):c.1240_1241delAG (p.Ser414fs)	SCARB2 (S271fs +1 more)	Deletion (frameshift variant +1 more)	Action myoclonus-renal failure syndrome	GPathogenic
Select item 2744535	NM_005506.4(SCARB2):c.1240-2A>G	SCARB2	Single nucleotide variant (splice acceptor variant)	Progressive myoclonic epilepsy	GLikely pathogenic
Select item 2827292	NM_005506.4(SCARB2):c.1240-4C>T	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2128596	NM_005506.4(SCARB2):c.1240-6C>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 701316	NM_005506.4(SCARB2):c.1240-9C>T	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1556017	NM_005506.4(SCARB2):c.1240-15T>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 516303	NM_005506.4(SCARB2):c.1240-18A>G	SCARB2	Single nucleotide variant (intron variant)	not specified +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 2172374	NM_005506.4(SCARB2):c.1239+14_1239+17dup	SCARB2	Duplication (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2730987	NM_005506.4(SCARB2):c.1239+15G>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 138969	NM_005506.4(SCARB2):c.1239+14C>T	SCARB2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2196828	NM_005506.4(SCARB2):c.1239+12G>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 406876	NM_005506.4(SCARB2):c.1239+8C>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 7376	NM_005506.4(SCARB2):c.1239+1G>T	SCARB2	Single nucleotide variant (splice donor variant)	Action myoclonus-renal failure syndrome	GPathogenic
Select item 462920	NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser)	SCARB2 (N412S +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2706587	NM_005506.4(SCARB2):c.1233C>G (p.Leu411=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign

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