"GeneDx"[submitter] AND "SLC33A1"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
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)	Spastic paraplegia +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 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 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)	not provided +2 more	GBenign/Likely benign
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 343874	NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)	SLC33A1 (G509S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +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 +3 more	GUncertain significance
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 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 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 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 343875	NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)	SLC33A1 (N484T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely 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 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 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 1215630	NM_004733.4(SLC33A1):c.1006G>A (p.Val336Ile)	SLC33A1 (G273D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1187248	NM_004733.4(SLC33A1):c.964-54G>A	SLC33A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295529	NM_004733.4(SLC33A1):c.964-64T>C	SLC33A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198245	NM_004733.4(SLC33A1):c.964-153C>T	SLC33A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295736	NM_004733.4(SLC33A1):c.964-160C>T	SLC33A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363307	NM_004733.4(SLC33A1):c.896A>G (p.Lys299Arg)	SLC33A1 (K299R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314453	NM_004733.4(SLC33A1):c.849A>G (p.Glu283=)	SLC33A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 448412	NM_004733.4(SLC33A1):c.847G>A (p.Glu283Lys)	SLC33A1 (E283K)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 1706698	NM_004733.4(SLC33A1):c.845A>G (p.Asn282Ser)	SLC33A1 (N282S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502110	NM_004733.4(SLC33A1):c.776A>C (p.Asp259Ala)	SLC33A1 (D259A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1211782	NM_004733.4(SLC33A1):c.776-149C>T	SLC33A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2503389	NM_004733.4(SLC33A1):c.746C>T (p.Pro249Leu)	SLC33A1 (P249L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164484	NM_004733.4(SLC33A1):c.710C>A (p.Ser237Tyr)	SLC33A1 (S237Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2504462	NM_004733.4(SLC33A1):c.671G>T (p.Gly224Val)	SLC33A1 (G224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663129	NM_004733.4(SLC33A1):c.625A>G (p.Asn209Asp)	SLC33A1 (N209D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304005	NM_004733.4(SLC33A1):c.619A>G (p.Arg207Gly)	SLC33A1 (R207G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259528	NM_004733.4(SLC33A1):c.512A>G (p.Asp171Gly)	SLC33A1 (D171G)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1693437	NM_004733.4(SLC33A1):c.500G>A (p.Gly167Glu)	SLC33A1 (G167E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704669	NM_004733.4(SLC33A1):c.463A>G (p.Met155Val)	SLC33A1 (M155V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1312778	NM_004733.4(SLC33A1):c.400G>T (p.Val134Phe)	SLC33A1 (V134F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034513	NM_004733.4(SLC33A1):c.400G>C (p.Val134Leu)	SLC33A1 (V134L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448411	NM_004733.4(SLC33A1):c.370C>T (p.Leu124Phe)	SLC33A1 (L124F)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GUncertain significance
Select item 343881	NM_004733.4(SLC33A1):c.327A>G (p.Gln109=)	SLC33A1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 1878815	NM_004733.4(SLC33A1):c.317A>G (p.Tyr106Cys)	SLC33A1 (Y106C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586608	NM_004733.4(SLC33A1):c.288A>C (p.Pro96=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 1021456	NM_004733.4(SLC33A1):c.280A>T (p.Ser94Cys)	SLC33A1 (S94C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1469748	NM_004733.4(SLC33A1):c.201C>G (p.Ser67Arg)	SLC33A1 (S67R)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 343882	NM_004733.4(SLC33A1):c.169G>C (p.Gly57Arg)	SLC33A1 (G57R)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GLikely benign
Select item 1469750	NM_004733.4(SLC33A1):c.154C>G (p.Leu52Val)	SLC33A1 (L52V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2661980	NM_004733.4(SLC33A1):c.140G>A (p.Gly47Glu)	SLC33A1 (G47E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 343883	NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys)	SLC33A1 (E46K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1314123	NM_004733.4(SLC33A1):c.80G>A (p.Ser27Asn)	SLC33A1 (S27N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214501	NM_004733.4(SLC33A1):c.-125C>T	SLC33A1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 343890	NM_004733.4(SLC33A1):c.-343G>A	SLC33A1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3360114	NM_004733.4(SLC33A1):c.25G>C (p.Asp9His)	SLC33A1 (D9H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 65