SLC33A1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 232

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 343855	NM_004733.4(SLC33A1):c.1673_1676del	SLC33A1	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GLikely benign
Select item 343861	NM_004733.4(SLC33A1):c.*893del	SLC33A1	Deletion (3 prime UTR variant +1 more)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 343866	NM_004733.4(SLC33A1):c.582_583del	SLC33A1	Deletion (3 prime UTR variant +1 more)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 1293131	NM_004733.4(SLC33A1):c.*179dup	SLC33A1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1274993	NM_004733.4(SLC33A1):c.*169del	SLC33A1	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1040995	NM_004733.4(SLC33A1):c.1646A>G (p.Asn549Ser)	SLC33A1 (N447S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 959598	NM_004733.4(SLC33A1):c.1642A>G (p.Asn548Asp)	SLC33A1 (N446D +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1344034	NM_004733.4(SLC33A1):c.1626G>C (p.Ser542=)	SLC33A1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1311261	NM_004733.4(SLC33A1):c.1625C>T (p.Ser542Leu)	SLC33A1 (S440L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995153	NM_004733.4(SLC33A1):c.1615G>T (p.Gly539Ter)	SLC33A1 (G437* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia	GUncertain significance
Select item 1590554	NM_004733.4(SLC33A1):c.1602G>A (p.Lys534=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2718800	NM_004733.4(SLC33A1):c.1599A>G (p.Lys533=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1629284	NM_004733.4(SLC33A1):c.1596T>C (p.Phe532=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2720579	NM_004733.4(SLC33A1):c.1587T>A (p.Gly529=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1207557	NM_004733.4(SLC33A1):c.1579T>G (p.Phe527Val)	SLC33A1 (F425V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 696830	NM_004733.4(SLC33A1):c.1569T>C (p.Gly523=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 1903899	NM_004733.4(SLC33A1):c.1560T>C (p.Ile520=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1512443	NM_004733.4(SLC33A1):c.1559T>G (p.Ile520Ser)	SLC33A1 (I418S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1043753	NM_004733.4(SLC33A1):c.1559T>C (p.Ile520Thr)	SLC33A1 (I520T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1344033	NM_004733.4(SLC33A1):c.1536G>A (p.Val512=)	SLC33A1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1485342	NM_004733.4(SLC33A1):c.1535T>C (p.Val512Ala)	SLC33A1 (V512A +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2581927	NM_004733.4(SLC33A1):c.1531T>C (p.Tyr511His)	SLC33A1 (Y409H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1107245	NM_004733.4(SLC33A1):c.1530T>C (p.Tyr510=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 343874	NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)	SLC33A1 (G509S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 418497	NM_004733.4(SLC33A1):c.1511_1521del (p.Val504fs)	SLC33A1 (V504fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 42 +3 more	GUncertain significance
Select item 2506309	NM_004733.4(SLC33A1):c.1518C>T (p.Ala506=)	SLC33A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1509941	NM_004733.4(SLC33A1):c.1505C>T (p.Ser502Leu)	SLC33A1 (S400L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 648313	NM_004733.4(SLC33A1):c.1498G>T (p.Gly500Cys)	SLC33A1 (G398C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 424056	NM_004733.4(SLC33A1):c.1489A>G (p.Lys497Glu)	SLC33A1 (K497E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297567	NM_004733.4(SLC33A1):c.1487G>C (p.Cys496Ser)	SLC33A1 (C394S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198935	NM_004733.4(SLC33A1):c.1483-73G>A	SLC33A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188783	NM_004733.4(SLC33A1):c.1482+239C>G	SLC33A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295532	NM_004733.4(SLC33A1):c.1482+203G>A	SLC33A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684760	NM_004733.4(SLC33A1):c.1474_1482+9del	SLC33A1	Deletion (splice donor variant)	Huppke-Brendel syndrome	GPathogenic
Select item 416702	NM_004733.4(SLC33A1):c.1482+7A>G	SLC33A1	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 1878711	NM_004733.4(SLC33A1):c.1477G>A (p.Val493Ile)	SLC33A1 (V391I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499808	NM_004733.4(SLC33A1):c.1457A>G (p.Asn486Ser)	SLC33A1 (N486S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 343875	NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)	SLC33A1 (N484T +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1441111	NM_004733.4(SLC33A1):c.1438G>A (p.Val480Ile)	SLC33A1 (V480I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1999495	NM_004733.4(SLC33A1):c.1433_1434del (p.Glu478fs)	SLC33A1 (E478fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia	GUncertain significance
Select item 3063703	NM_004733.4(SLC33A1):c.1425A>G (p.Thr475=)	SLC33A1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 458228	NM_004733.4(SLC33A1):c.1425A>C (p.Thr475=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2124327	NM_004733.4(SLC33A1):c.1420C>T (p.Leu474Phe)	SLC33A1 (L474F +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1573192	NM_004733.4(SLC33A1):c.1413A>G (p.Val471=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1437536	NM_004733.4(SLC33A1):c.1396G>C (p.Val466Leu)	SLC33A1 (V466L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2286400	NM_004733.4(SLC33A1):c.1364T>C (p.Val455Ala)	SLC33A1 (V455A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584670	NM_004733.4(SLC33A1):c.1363G>A (p.Val455Met)	SLC33A1 (V353M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 42	GUncertain significance
Select item 2074876	NM_004733.4(SLC33A1):c.1362C>T (p.Thr454=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 425315	NM_004733.4(SLC33A1):c.1355T>C (p.Leu452Ser)	SLC33A1 (L452S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067209	NM_004733.4(SLC33A1):c.1315G>A (p.Val439Ile)	SLC33A1 (V337I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 943600	NM_004733.4(SLC33A1):c.1300G>A (p.Ala434Thr)	SLC33A1 (A332T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2078306	NM_004733.4(SLC33A1):c.1298T>C (p.Met433Thr)	SLC33A1 (M433T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 747059	NM_004733.4(SLC33A1):c.1287T>C (p.Tyr429=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2147402	NM_004733.4(SLC33A1):c.1284G>A (p.Met428Ile)	SLC33A1 (M326I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2719821	NM_004733.4(SLC33A1):c.1278C>T (p.Tyr426=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2436016	NM_004733.4(SLC33A1):c.1277A>G (p.Tyr426Cys)	SLC33A1 (Y324C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928165	NM_004733.4(SLC33A1):c.1268T>C (p.Val423Ala)	SLC33A1 (V423A +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 684759	NM_004733.4(SLC33A1):c.1267-1G>A	SLC33A1	Single nucleotide variant (splice acceptor variant)	Huppke-Brendel syndrome	GPathogenic
Select item 3051998	NM_004733.4(SLC33A1):c.1267-4G>A	SLC33A1	Single nucleotide variant (intron variant)	SLC33A1-related disorder	GLikely benign
Select item 2713201	NM_004733.4(SLC33A1):c.1267-15T>C	SLC33A1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1234548	NM_004733.4(SLC33A1):c.1267-236C>T	SLC33A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289834	NM_004733.4(SLC33A1):c.1267-253C>T	SLC33A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175571	NM_004733.4(SLC33A1):c.1266+252G>A	SLC33A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178054	NM_004733.4(SLC33A1):c.1266+193T>A	SLC33A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247990	NM_004733.4(SLC33A1):c.1266+113A>G	SLC33A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295528	NM_004733.4(SLC33A1):c.1266+54A>G	SLC33A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269087	NM_004733.4(SLC33A1):c.1266+51G>A	SLC33A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 240071	NM_004733.4(SLC33A1):c.1266+9G>C	SLC33A1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3239339	NM_004733.4(SLC33A1):c.1237G>A (p.Val413Ile)	SLC33A1 (V413I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2507045	NM_004733.4(SLC33A1):c.1223T>G (p.Ile408Arg)	SLC33A1 (I408R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2174653	NM_004733.4(SLC33A1):c.1223T>C (p.Ile408Thr)	SLC33A1 (I408T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2064168	NM_004733.4(SLC33A1):c.1209A>G (p.Gln403=)	SLC33A1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1567161	NM_004733.4(SLC33A1):c.1176A>T (p.Leu392=)	SLC33A1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 699977	NM_004733.4(SLC33A1):c.1161G>A (p.Gly387=)	SLC33A1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1589239	NM_004733.4(SLC33A1):c.1149-4A>G	SLC33A1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 745861	NM_004733.4(SLC33A1):c.1149-8C>G	SLC33A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598390	NM_004733.4(SLC33A1):c.1148+7A>G	SLC33A1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2722237	NM_004733.4(SLC33A1):c.1131C>T (p.Tyr377=)	SLC33A1 (Q315*)	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1070059	NM_004733.4(SLC33A1):c.1131C>G (p.Tyr377Ter)	SLC33A1 (Q315E +1 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia	GPathogenic
Select item 1704802	NM_004733.4(SLC33A1):c.1117T>G (p.Leu373Val)	SLC33A1 (I310S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 755387	NM_004733.4(SLC33A1):c.1113G>A (p.Gln371=)	SLC33A1 (A309T)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 684758	NM_004733.4(SLC33A1):c.1098C>G (p.Tyr366Ter)	SLC33A1 (H304D +1 more)	Single nucleotide variant (nonsense +1 more)	Huppke-Brendel syndrome	GPathogenic
Select item 1540917	NM_004733.4(SLC33A1):c.1089C>A (p.Ile363=)	SLC33A1 (Q301K)	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2468938	NM_004733.4(SLC33A1):c.1075C>G (p.Leu359Val)	SLC33A1 (L359V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2047757	NM_004733.4(SLC33A1):c.1075C>A (p.Leu359Met)	SLC33A1 (T296N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 994964	NM_004733.4(SLC33A1):c.1069A>G (p.Ile357Val)	SLC33A1 (D294G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040858	NM_004733.4(SLC33A1):c.1063T>C (p.Leu355=)	SLC33A1 (F292S)	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2558160	NM_004733.4(SLC33A1):c.1054A>G (p.Met352Val)	SLC33A1 (M352V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165578	NM_004733.4(SLC33A1):c.1042T>C (p.Leu348=)	SLC33A1 (I285T)	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2633971	NM_004733.4(SLC33A1):c.1041A>G (p.Leu347=)	SLC33A1 (I285V)	Single nucleotide variant (synonymous variant +1 more)	SLC33A1-related disorder	GUncertain significance
Select item 580211	NM_004733.4(SLC33A1):c.1037C>T (p.Ala346Val)	SLC33A1 (A346V)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2016627	NM_004733.4(SLC33A1):c.1036G>T (p.Ala346Ser)	SLC33A1 (S283I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1215630	NM_004733.4(SLC33A1):c.1006G>A (p.Val336Ile)	SLC33A1 (G273D +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 1423926	NM_004733.4(SLC33A1):c.1003T>G (p.Leu335Val)	SLC33A1 (I272S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 934581	NM_004733.4(SLC33A1):c.988G>A (p.Val330Ile)	SLC33A1 (C267Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3164284	NM_004733.4(SLC33A1):c.980C>T (p.Ala327Val)	SLC33A1 (A327V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 3