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Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4B1, AP4B1-AS1
(R393* +2 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1, AP4B1-AS1
(T219fs +2 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
SPAST
(G37W)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
SPAST
(V118L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
SPAST
(T164A +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
SPAST
(S240C +3 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
SPAST
(G245V +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+1 more
GUncertain significance
SPAST
(K279N +3 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
SPAST
(F284S +3 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
SPAST
Single nucleotide variant
(intron variant)
Spastic paraplegia
GUncertain significance
SPAST
(T550I +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
+1 more
GConflicting classifications of pathogenicity
SPAST
Deletion
(splice acceptor variant)
Spastic paraplegia
GUncertain significance
SPAST
(E534K +4 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
SPAST
(N579H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
SPAST
(S562N +3 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
SPAST
(A570V +3 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+2 more
GUncertain significance
REEP1
(R149W +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 31
+1 more
GUncertain significance
REEP1
(D62Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
REEP1
(T22P +2 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
SLC19A3
(R9G)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GUncertain significance
KIF1A
Microsatellite
(inframe_insertion +1 more)
not provided
+1 more
GUncertain significance
KIF1A
Single nucleotide variant
(splice donor variant)
Spastic paraplegia
GPathogenic
KIF1A
Single nucleotide variant
(intron variant)
Spastic paraplegia
+3 more
GUncertain significance
KIF1A
(R316Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+4 more
GConflicting classifications of pathogenicity
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+5 more
GConflicting classifications of pathogenicity
KIF1A
Microsatellite
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KIF1A
Single nucleotide variant
(splice donor variant)
Spastic paraplegia
GPathogenic
KIF1A
(G78S)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GPathogenic/Likely pathogenic
KIF1A
Deletion
Spastic paraplegia
GPathogenic
SLC33A1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP2U1
(R240H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 56
+2 more
GConflicting classifications of pathogenicity
CYP2U1
(P459L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
CYP2U1
(R488W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ARSI
(R336*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
GUncertain significance
ERLIN2
(Q63K)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
CYP7B1
(R486C)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 5A
+4 more
GPathogenic/Likely pathogenic
CYP7B1
(R452Q)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
(R452*)
Single nucleotide variant
(nonsense +1 more)
Spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
CYP7B1
(R417C)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+2 more
GPathogenic
CYP7B1
(F407S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+1 more
GUncertain significance
CYP7B1
(P398L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(R388Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
CYP7B1
(R388*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic
CYP7B1
(S354N)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(T297A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
CYP7B1
(Y275*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 5A
+3 more
GPathogenic
CYP7B1
(G147D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
+2 more
GConflicting classifications of pathogenicity
CYP7B1
(R112*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
CYP7B1
Single nucleotide variant
(splice acceptor variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
WASHC5, WASHC5-AS1
(P770S +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GUncertain significance
VCP
(R95C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
GBA2
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
GBA2
(R314C)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
GBA2
(R215H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
GBA2
(L206P)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
BICD2
(G839R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
BICD2
(K508del)
Microsatellite
(inframe_deletion)
Spastic paraplegia
GPathogenic
BICD2
(R231C)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
+1 more
GConflicting classifications of pathogenicity
SETX
(K992R)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
KIF5A
Duplication
(inframe_insertion +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(R204W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GPathogenic/Likely pathogenic
KIF5A
(R204Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+4 more
GPathogenic/Likely pathogenic
KIF5A
(E251K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
KIF5A
(I166V +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
(R280C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GPathogenic/Likely pathogenic
KIF5A
(R280H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+4 more
GPathogenic/Likely pathogenic
KIF5A
(R208W +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
(R323W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
KIF5A
(E441fs +1 more)
Deletion
(frameshift variant)
Spastic paraplegia
GUncertain significance
KIF5A
(R627Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+1 more
GConflicting classifications of pathogenicity
B4GALNT1
(K279N +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
SACS
(R4325* +1 more)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
SACS
(K4161fs +1 more)
Deletion
(frameshift variant)
Spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
SACS
(R3792* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SACS
(I3608fs +1 more)
Microsatellite
(frameshift variant)
Spastic paraplegia
+2 more
GPathogenic
SACS
(P2070Q +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
SACS
(S1718fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+4 more
GPathogenic
SACS
(G306fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
+1 more
GPathogenic
ATL1
(R239C)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1D
+3 more
GPathogenic/Likely pathogenic
ZFYVE26
(Q2337R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
ZFYVE26
Deletion
(nonsense)
Spastic paraplegia
+1 more
GPathogenic
ZFYVE26
(Q1808*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
+1 more
GPathogenic
ZFYVE26
(A1215fs)
Insertion
(frameshift variant)
Spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
ZFYVE26
(Q1128*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
ZFYVE26
(Y657*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic
ZFYVE26
(C377fs)
Deletion
(frameshift variant)
Spastic paraplegia
GConflicting classifications of pathogenicity
LOC130056709, NIPA1
(V37M)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GUncertain significance
NIPA1
(G106R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SPG11
(K1222fs)
Insertion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
FA2H
(G217R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
FA2H
(E78K)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
SPG7
Deletion
(splice acceptor variant)
Hereditary spastic paraplegia 7
+10 more
GPathogenic
CPT1C
(A431G +2 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CPT1C
(V702M +4 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
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