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

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

Search results

Items: 1 to 100 of 192

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60107	GRCh38/hg38 2p23.1-22.3(chr2:31368632-32087629)x1	DPY30, LINC01946 +19 more	Copy number loss	See cases	GPathogenic
Select item 60108	GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1	BIRC6, DPY30 +28 more	Copy number loss	See cases	GPathogenic
Select item 671069	NM_014946.3(SPAST):c.-423C>A	LOC129933454, SPAST	Single nucleotide variant	not provided	GBenign
Select item 1177858	NC_000002.12:g.32063480G>C	SPAST	Single nucleotide variant	not provided	GLikely benign
Select item 335826	NM_014946.4(SPAST):c.-41C>T	SPAST	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 4 +2 more	GLikely benign
Select item 1703982	NM_014946.4(SPAST):c.-4G>A	SPAST	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2055101	NM_014946.4(SPAST):c.11C>G (p.Pro4Arg)	SPAST (P4R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 392495	NM_014946.4(SPAST):c.19C>A (p.Arg7=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4 +1 more	GConflicting classifications of pathogenicity
Select item 1303472	NM_014946.4(SPAST):c.29A>G (p.Lys10Arg)	SPAST (K10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367733	NM_014946.4(SPAST):c.56C>G (p.Pro19Arg)	SPAST (P19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363774	NM_014946.4(SPAST):c.58G>C (p.Val20Leu)	SPAST (V20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682523	NM_014946.4(SPAST):c.68G>A (p.Arg23Lys)	SPAST (R23K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +2 more	GBenign/Likely benign
Select item 391244	NM_014946.4(SPAST):c.98C>T (p.Pro33Leu)	SPAST (P33L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2576942	NM_014946.4(SPAST):c.124C>A (p.Pro42Thr)	SPAST (P42T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5671	NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	SPAST (S44L)	Single nucleotide variant (missense variant)	not specified +4 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)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 897739	NM_014946.4(SPAST):c.137A>G (p.His46Arg)	SPAST (H46R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GConflicting classifications of pathogenicity
Select item 388650	NM_014946.4(SPAST):c.171G>C (p.Leu57=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4 +1 more	GLikely benign
Select item 568338	NM_014946.4(SPAST):c.179G>A (p.Gly60Asp)	SPAST (G60D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1707912	NM_014946.4(SPAST):c.183C>G (p.Phe61Leu)	SPAST (F61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497977	NM_014946.4(SPAST):c.194G>A (p.Arg65His)	SPAST (R65H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697872	NM_014946.4(SPAST):c.243C>G (p.Arg81=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4 +1 more	GBenign/Likely benign
Select item 3369686	NM_014946.4(SPAST):c.255C>T (p.Ala85=)	SPAST	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 220021	NM_014946.4(SPAST):c.289C>A (p.Pro97Thr)	SPAST (P97T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 383520	NM_014946.4(SPAST):c.327G>C (p.Pro109=)	SPAST	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 523792	NM_014946.4(SPAST):c.334G>T (p.Glu112Ter)	SPAST (E112*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4 +1 more	GPathogenic/Likely pathogenic
Select item 3343705	NM_014946.4(SPAST):c.382T>G (p.Ser128Ala)	SPAST (S128A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340614	NM_014946.4(SPAST):c.403G>T (p.Glu135Ter)	SPAST (E135*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 381666	NM_014946.4(SPAST):c.415+1G>T	SPAST	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 507011	NM_014946.4(SPAST):c.415+12G>A	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4 +1 more	GBenign/Likely benign
Select item 512095	NM_014946.4(SPAST):c.415+17G>T	SPAST	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1178241	NM_014946.4(SPAST):c.416-268A>T	SPAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681654	NM_014946.4(SPAST):c.416-240A>G	SPAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217915	NM_014946.4(SPAST):c.416-153C>T	SPAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215360	NM_014946.4(SPAST):c.416-66C>A	SPAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198993	NM_014946.4(SPAST):c.416-31C>G	SPAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695579	NM_014946.4(SPAST):c.419G>A (p.Gly140Glu)	SPAST (G139E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1695506	NM_014946.4(SPAST):c.486dup (p.Ile163fs)	SPAST (I162fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 335829	NM_014946.4(SPAST):c.484G>A (p.Val162Ile)	SPAST (V162I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1800493	NM_014946.4(SPAST):c.496G>T (p.Gly166Ter)	SPAST (G165* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1256730	NM_014946.4(SPAST):c.502+53T>C	SPAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242835	NM_014946.4(SPAST):c.502+70TATT[6]	SPAST	Microsatellite (intron variant)	not provided	GBenign
Select item 1218845	NM_014946.4(SPAST):c.502+284ATT[11]	SPAST	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1282838	NM_014946.4(SPAST):c.502+284ATT[9]	SPAST	Microsatellite (intron variant)	not provided	GBenign
Select item 1277089	NM_014946.4(SPAST):c.503-118A>T	SPAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223618	NM_014946.4(SPAST):c.503-117A>T	SPAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 265647	NM_014946.4(SPAST):c.508C>T (p.Gln170Ter)	SPAST (Q170* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 372769	NM_014946.4(SPAST):c.571del (p.Arg191fs)	SPAST (R190fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3372103	NM_014946.4(SPAST):c.572G>A (p.Arg191His)	SPAST (R190H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335830	NM_014946.4(SPAST):c.586+9_586+12del	SPAST	Deletion (intron variant)	Spastic paraplegia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 1327277	NM_014946.4(SPAST):c.664A>G (p.Asn222Asp)	SPAST (N221D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 898891	NM_014946.4(SPAST):c.679T>G (p.Ser227Ala)	SPAST (S227A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 1710857	NM_014946.4(SPAST):c.682+5G>T	SPAST	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1242371	NM_014946.4(SPAST):c.682+112T>C	SPAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258425	NM_014946.4(SPAST):c.682+175G>A	SPAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246814	NM_014946.4(SPAST):c.683-146C>T	SPAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 197814	NM_014946.4(SPAST):c.683-9C>T	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4 +1 more	GBenign/Likely benign
Select item 844578	NM_014946.4(SPAST):c.712C>A (p.Pro238Thr)	SPAST (P205T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 448453	NM_014946.4(SPAST):c.734C>G (p.Ser245Ter)	SPAST (S245* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4 +1 more	GPathogenic
Select item 1449731	NM_014946.4(SPAST):c.742C>T (p.Arg248Cys)	SPAST (R215C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1683942	NM_014946.4(SPAST):c.782C>T (p.Ser261Leu)	SPAST (S228L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507741	NM_014946.4(SPAST):c.816A>G (p.Leu272=)	SPAST	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 489004	NM_014946.4(SPAST):c.841G>T (p.Gly281Ter)	SPAST (G281* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 335833	NM_014946.4(SPAST):c.865C>T (p.His289Tyr)	SPAST (H289Y +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GBenign
Select item 586667	NM_014946.4(SPAST):c.867_868del (p.His289fs)	SPAST (H288fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4 +1 more	GPathogenic
Select item 468575	NM_014946.4(SPAST):c.870G>A (p.Lys290=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4 +1 more	GPathogenic/Likely pathogenic
Select item 674637	NM_014946.4(SPAST):c.870+60A>C	SPAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200804	NM_014946.4(SPAST):c.870+122A>G	SPAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343837	NM_014946.4(SPAST):c.870+131_870+132insT	SPAST	Insertion (intron variant)	not provided	GBenign
Select item 1293141	NM_014946.4(SPAST):c.870+150dup	SPAST	Duplication (intron variant)	not provided	GBenign
Select item 1260824	NM_014946.4(SPAST):c.870+149_870+150dup	SPAST	Duplication (intron variant)	not provided	GBenign
Select item 671073	NM_014946.4(SPAST):c.870+283C>T	SPAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684075	NM_014946.4(SPAST):c.871-289C>G	SPAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515231	NM_014946.4(SPAST):c.871-12G>A	SPAST	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 392516	NM_014946.4(SPAST):c.871-1G>C	SPAST	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 4 +1 more	GPathogenic/Likely pathogenic
Select item 219840	NM_014946.4(SPAST):c.879G>A (p.Pro293=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 422380	NM_014946.4(SPAST):c.911dup (p.Thr305fs)	SPAST (T273fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1706866	NM_014946.4(SPAST):c.918T>C (p.Thr306=)	SPAST	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 511631	NM_014946.4(SPAST):c.942G>A (p.Leu314=)	SPAST	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1208438	NM_014946.4(SPAST):c.950T>G (p.Phe317Cys)	SPAST (F284C +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 1111773	NM_014946.4(SPAST):c.965G>A (p.Ser322Asn)	SPAST (S289N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1207626	NM_014946.4(SPAST):c.1005-128C>T	SPAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 335834	NM_014946.4(SPAST):c.1005-5C>A	SPAST	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1308049	NM_014946.4(SPAST):c.1037G>A (p.Gly346Asp)	SPAST (G313D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503807	NM_014946.4(SPAST):c.1056del (p.Ala353fs)	SPAST (A320fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1700548	NM_014946.4(SPAST):c.1061T>C (p.Leu354Ser)	SPAST (L321S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378020	NM_014946.4(SPAST):c.1072G>T (p.Val358Phe)	SPAST (V325F +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 512772	NM_014946.4(SPAST):c.1077T>C (p.Ile359=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4 +1 more	GLikely benign
Select item 387072	NM_014946.4(SPAST):c.1087C>T (p.Leu363=)	SPAST	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 681411	NM_014946.4(SPAST):c.1098+19C>G	SPAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279505	NM_014946.4(SPAST):c.1098+118A>G	SPAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258790	NM_014946.4(SPAST):c.1098+127A>G	SPAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432721	NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg)	SPAST (L371R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3340341	NM_014946.4(SPAST):c.1130G>A (p.Gly377Glu)	SPAST (G344E +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2504198	NM_014946.4(SPAST):c.1153G>A (p.Gly385Arg)	SPAST (G352R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 450255	NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn)	SPAST (K388N +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GPathogenic
Select item 208644	NM_014946.4(SPAST):c.1168A>G (p.Met390Val)	SPAST (M390V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 430454	NM_014946.4(SPAST):c.1169T>C (p.Met390Thr)	SPAST (M390T +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 430448	NM_014946.4(SPAST):c.1170G>A (p.Met390Ile)	SPAST (M390I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 383910	NM_014946.4(SPAST):c.1173+17A>C	SPAST	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign

<< First< Prev

Page of 2