Allelic Variants - 604277

SPASTIN; SPAST

Allelic Variants (22 Selected Examples) :

All ClinVar Variants

Number	Phenotype	Mutation	SNP	gnomAD	ClinVar
.0001	SPASTIC PARAPLEGIA 4	SPAST, SER362CYS	rs121908509 Ensembl NCBI UCSC	-	RCV000006011
.0002	SPASTIC PARAPLEGIA 4	SPAST, CYS448TYR	rs121908510 Ensembl NCBI UCSC	-	RCV000006012...
.0003	SPASTIC PARAPLEGIA 4	SPAST, 1-BP DEL, 1520T	rs587777751 Ensembl NCBI UCSC	-	RCV000006013
.0004	SPASTIC PARAPLEGIA 4	SPAST, ARG499CYS	rs121908511 Ensembl NCBI UCSC	rs121908511	RCV000006014...
.0005	SPASTIC PARAPLEGIA 4	SPAST, IVS15AS, A-G, -2	rs587777752 Ensembl NCBI UCSC	-	RCV000006015...
.0006	REMOVED FROM DATABASE	-	-	-	-
.0007	SPASTIC PARAPLEGIA 4	SPAST, LYS229TER	rs1318536893 Ensembl NCBI UCSC	rs1318536893	RCV001391488
.0008	SPASTIC PARAPLEGIA 4	SPAST, 1-BP INS, 578A	rs587777753 Ensembl NCBI UCSC	-	RCV000006017
.0009	SPASTIC PARAPLEGIA 4	SPAST, ASP441GLY	rs121908512 Ensembl NCBI UCSC	-	RCV000006018...
.0010	SPASTIC PARAPLEGIA 4	SPAST, IVS16DS, G-C, +1	rs587777754 Ensembl NCBI UCSC	-	RCV000006019
.0011	SPASTIC PARAPLEGIA 4	SPAST, IVS9DS, A-G, +4	rs587777755 Ensembl NCBI UCSC	-	RCV000006020...
.0012	SPASTIC PARAPLEGIA 4	SPAST, IVS11, 1-BP INS, +2T	rs587777756 Ensembl NCBI UCSC	-	RCV000006021...
.0013	SPASTIC PARAPLEGIA 4	SPAST, ILE344LYS	rs121908513 Ensembl NCBI UCSC	-	RCV000006022
.0014	SPASTIC PARAPLEGIA 4	SPAST, ASN386SER	rs121908514 Ensembl NCBI UCSC	-	RCV000006023...
.0015	SPASTIC PARAPLEGIA 4, MODIFIER OF	SPAST, SER44LEU	rs121908515 Ensembl NCBI UCSC	rs121908515	RCV000006025...
.0016	SPASTIC PARAPLEGIA 4	SPAST, ASP470VAL	rs121908516 Ensembl NCBI UCSC	-	RCV000006024
.0017	SPASTIC PARAPLEGIA 4, MODIFIER OF	SPAST, PRO45GLN	rs121908517 Ensembl NCBI UCSC	rs121908517	RCV000006026...
.0018	SPASTIC PARAPLEGIA 4	SPAST, ARG562GLY	rs121908518 Ensembl NCBI UCSC	-	RCV000006027
.0019	SPASTIC PARAPLEGIA 4	SPAST, 2.3-KB DEL	-	-	RCV000006028
.0020	SPASTIC PARAPLEGIA 4	SPAST, 30-BP DEL, NT1216	rs587777757 Ensembl NCBI UCSC	-	RCV000006029...
.0021	SPASTIC PARAPLEGIA 4	SPAST, SER445ARG	rs121908519 Ensembl NCBI UCSC	-	RCV000006030
.0022	SPASTIC PARAPLEGIA 4	SPAST, EX10-12DUP	-	-	RCV000006031

604277

SPASTIN; SPAST

Allelic Variants (22 Selected Examples :

Number	Phenotype	Mutation	SNP	gnomAD	ClinVar
.0001	SPASTIC PARAPLEGIA 4	SPAST, SER362CYS	rs121908509	-	RCV000006011
.0002	SPASTIC PARAPLEGIA 4	SPAST, CYS448TYR	rs121908510	-	RCV000006012, RCV004589497
.0003	SPASTIC PARAPLEGIA 4	SPAST, 1-BP DEL, 1520T	rs587777751	-	RCV000006013
.0004	SPASTIC PARAPLEGIA 4	SPAST, ARG499CYS	rs121908511	rs121908511	RCV000006014, RCV000415256, RCV000523541, RCV001847585
.0005	SPASTIC PARAPLEGIA 4	SPAST, IVS15AS, A-G, -2	rs587777752	-	RCV000006015, RCV001091365
.0006	REMOVED FROM DATABASE	-	-	-	-
.0007	SPASTIC PARAPLEGIA 4	SPAST, LYS229TER	rs1318536893	rs1318536893	RCV001391488
.0008	SPASTIC PARAPLEGIA 4	SPAST, 1-BP INS, 578A	rs587777753	-	RCV000006017
.0009	SPASTIC PARAPLEGIA 4	SPAST, ASP441GLY	rs121908512	-	RCV000006018, RCV001849258, RCV004719628
.0010	SPASTIC PARAPLEGIA 4	SPAST, IVS16DS, G-C, +1	rs587777754	-	RCV000006019
.0011	SPASTIC PARAPLEGIA 4	SPAST, IVS9DS, A-G, +4	rs587777755	-	RCV000006020, RCV003225018
.0012	SPASTIC PARAPLEGIA 4	SPAST, IVS11, 1-BP INS, +2T	rs587777756	-	RCV000006021, RCV001508982
.0013	SPASTIC PARAPLEGIA 4	SPAST, ILE344LYS	rs121908513	-	RCV000006022
.0014	SPASTIC PARAPLEGIA 4	SPAST, ASN386SER	rs121908514	-	RCV000006023, RCV001847586
.0015	SPASTIC PARAPLEGIA 4, MODIFIER OF	SPAST, SER44LEU	rs121908515	rs121908515	RCV000006025, RCV000197924, RCV000368675, RCV000440604, RCV001794433, RCV001847587, RCV003924803
.0016	SPASTIC PARAPLEGIA 4	SPAST, ASP470VAL	rs121908516	-	RCV000006024
.0017	SPASTIC PARAPLEGIA 4, MODIFIER OF	SPAST, PRO45GLN	rs121908517	rs121908517	RCV000006026, RCV000584902, RCV000845266, RCV001847588
.0018	SPASTIC PARAPLEGIA 4	SPAST, ARG562GLY	rs121908518	-	RCV000006027
.0019	SPASTIC PARAPLEGIA 4	SPAST, 2.3-KB DEL	-	-	RCV000006028
.0020	SPASTIC PARAPLEGIA 4	SPAST, 30-BP DEL, NT1216	rs587777757	-	RCV000006029, RCV000497406, RCV001847589
.0021	SPASTIC PARAPLEGIA 4	SPAST, SER445ARG	rs121908519	-	RCV000006030
.0022	SPASTIC PARAPLEGIA 4	SPAST, EX10-12DUP	-	-	RCV000006031

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