"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335827	NM_014946.4(SPAST):c.-7G>A	SPAST	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344038	NM_014946.4(SPAST):c.10C>G (p.Pro4Ala)	SPAST (P4A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 897736	NM_014946.4(SPAST):c.30G>A (p.Lys10=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 682523	NM_014946.4(SPAST):c.68G>A (p.Arg23Lys)	SPAST (R23K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 5671	NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	SPAST (S44L)	Single nucleotide variant (missense variant)	SPAST-related disorder +5 more	GBenign/Likely benign; other; risk factor
Select item 5672	NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)	SPAST (P45Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1344055	NM_014946.4(SPAST):c.167C>T (p.Pro56Leu)	SPAST (P56L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 665989	NM_014946.4(SPAST):c.286del (p.Ala96fs)	SPAST (A96fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia +1 more	GPathogenic
Select item 1344060	NM_014946.4(SPAST):c.290C>G (p.Pro97Arg)	SPAST (P97R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344061	NM_014946.4(SPAST):c.358del (p.His120fs)	SPAST (H120fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1344062	NM_014946.4(SPAST):c.361A>T (p.Lys121Ter)	SPAST (K121*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4 +1 more	GPathogenic/Likely pathogenic
Select item 1344063	NM_014946.4(SPAST):c.390_391del (p.Leu131fs)	SPAST (L131fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia	GPathogenic
Select item 1344064	NM_014946.4(SPAST):c.391_392insGGT (p.Ala130_Leu131insArg)	SPAST	Insertion (inframe_insertion)	Hereditary spastic paraplegia	GPathogenic
Select item 1344065	NM_014946.4(SPAST):c.415+10G>T	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344066	NM_014946.4(SPAST):c.426G>A (p.Lys142=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 335829	NM_014946.4(SPAST):c.484G>A (p.Val162Ile)	SPAST (V162I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 468573	NM_014946.4(SPAST):c.562del (p.Ala188fs)	SPAST (A187fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4 +1 more	GPathogenic
Select item 586665	NM_014946.4(SPAST):c.746C>G (p.Ser249Ter)	SPAST (S249* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 448455	NM_014946.4(SPAST):c.832G>A (p.Val278Met)	SPAST (V278M +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1344068	NM_014946.4(SPAST):c.843_846dup (p.Gly283fs)	SPAST (G250fs +3 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia	GPathogenic
Select item 1344069	NM_014946.4(SPAST):c.863C>T (p.Thr288Ile)	SPAST (T255I +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344070	NM_014946.4(SPAST):c.869A>G (p.Lys290Arg)	SPAST (K257R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344071	NM_014946.4(SPAST):c.871-1G>A	SPAST	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia +1 more	GLikely pathogenic
Select item 219840	NM_014946.4(SPAST):c.879G>A (p.Pro293=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4 +3 more	GBenign/Likely benign
Select item 1344072	NM_014946.4(SPAST):c.902_903dup (p.Ser302fs)	SPAST (S269fs +3 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4 +1 more	GPathogenic/Likely pathogenic
Select item 448458	NM_014946.4(SPAST):c.962_974del (p.Asp321fs)	SPAST (D320fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1344035	NM_014946.4(SPAST):c.1005-1G>C	SPAST	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia	GPathogenic
Select item 1344036	NM_014946.4(SPAST):c.1082del (p.Pro361fs)	SPAST (P328fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1344037	NM_014946.4(SPAST):c.1091G>C (p.Arg364Thr)	SPAST (R331T +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 586654	NM_014946.4(SPAST):c.1096G>A (p.Glu366Lys)	SPAST (E366K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 397539	NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe)	SPAST (L339F +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GLikely pathogenic
Select item 1344039	NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg)	SPAST (P351R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GPathogenic/Likely pathogenic
Select item 5669	NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser)	SPAST (N386S +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GPathogenic
Select item 1344040	NM_014946.4(SPAST):c.1208_1212del (p.Thr402_Phe403insTer)	SPAST	Deletion (nonsense)	Hereditary spastic paraplegia	GPathogenic
Select item 1344041	NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu)	SPAST (F370L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1344042	NM_014946.4(SPAST):c.1215_1218del (p.Asn405fs)	SPAST (N372fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia	GPathogenic
Select item 5675	NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)	SPAST (I406V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 226113	NM_014946.4(SPAST):c.1245+1G>A	SPAST	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 1344044	NM_014946.4(SPAST):c.1267G>T (p.Val423Leu)	SPAST (V390L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344043	NM_014946.4(SPAST):c.1267G>C (p.Val423Leu)	SPAST (V390L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 188179	NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)	SPAST (R431* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4 +2 more	GPathogenic
Select item 1344045	NM_014946.4(SPAST):c.1321+1G>T	SPAST	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia	GPathogenic
Select item 1344046	NM_014946.4(SPAST):c.1322-3T>G	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344047	NM_014946.4(SPAST):c.1328T>G (p.Val443Gly)	SPAST (V410G +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1344048	NM_014946.4(SPAST):c.1345G>T (p.Glu449Ter)	SPAST (E416* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 662160	NM_014946.4(SPAST):c.1361dup (p.His455fs)	SPAST (H423fs +3 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4 +1 more	GPathogenic
Select item 1344049	NM_014946.4(SPAST):c.1361A>G (p.Glu454Gly)	SPAST (E421G +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 240948	NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)	SPAST (R460C +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +2 more	GPathogenic
Select item 987211	NM_014946.4(SPAST):c.1379G>A (p.Arg460His)	SPAST (R427H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1344050	NM_014946.4(SPAST):c.1382del (p.Leu461fs)	SPAST (L428fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia	GPathogenic
Select item 1344051	NM_014946.4(SPAST):c.1388C>A (p.Thr463Asn)	SPAST (T430N +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 943601	NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys)	SPAST (E431K +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 848809	NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter)	SPAST (E463* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4 +1 more	GPathogenic
Select item 1344052	NM_014946.4(SPAST):c.1433A>T (p.Asp478Val)	SPAST (D445V +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 417628	NM_014946.4(SPAST):c.1477G>C (p.Asp493His)	SPAST (D493H +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 568108	NM_014946.4(SPAST):c.1493+2_1493+5del	SPAST	Deletion (splice donor variant)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 5660	NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)	SPAST (R499C +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +3 more	GPathogenic/Likely pathogenic
Select item 240950	NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	SPAST (R499H +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 219575	NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)	SPAST (R503W +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +2 more	GPathogenic/Likely pathogenic
Select item 1344054	NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp)	SPAST (E479D +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1344053	NM_014946.4(SPAST):c.1536+5G>A	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 515232	NM_014946.4(SPAST):c.1617-3C>T	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 219608	NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)	SPAST (G559D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 448449	NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)	SPAST (R562* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 4 +2 more	GPathogenic
Select item 217004	NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)	SPAST (R562Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +3 more	GPathogenic/Likely pathogenic
Select item 1344056	NM_014946.4(SPAST):c.1689_1690insACTAAAACC (p.Glu563_Leu564insThrLysThr)	SPAST	Insertion (inframe_insertion +1 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 212290	NM_014946.4(SPAST):c.1735A>C (p.Asn579His)	SPAST (N579H +3 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 988982	NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)	SPAST (R548* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1344057	NM_014946.4(SPAST):c.1775_1777del (p.Ile592del)	SPAST (I559del +3 more)	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344058	NM_014946.4(SPAST):c.1840del (p.Thr614fs)	SPAST (T581fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia	GPathogenic
Select item 801666	NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)	SPAST (T581I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +1 more	GPathogenic/Likely pathogenic
Select item 335839	NM_014946.4(SPAST):c.*98A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity

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Items: 72