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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(F2378L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+5 more
GConflicting classifications of pathogenicity
SPG11
(R2318C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GUncertain significance
SPG11
(L2300R +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+2 more
GConflicting classifications of pathogenicity
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
+1 more
GConflicting classifications of pathogenicity
SPG11
Insertion
(inframe_insertion)
Hereditary spastic paraplegia 11
+2 more
GUncertain significance
SPG11
(R2034*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
SPG11
(R2031*)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 11
+3 more
GPathogenic
SPG11
(N1989S)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
(A1687T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
SPG11
(E1630*)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 5
+1 more
GPathogenic
SPG11
(Q1330R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
GUncertain significance
SPG11
(K1025fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
+1 more
GPathogenic
SPG11
(R966H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+5 more
GUncertain significance
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
+2 more
GPathogenic/Likely pathogenic
SPG11
(R651*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SPG11
(M245fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2X
+6 more
GPathogenic
SPG11
(R93fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
+3 more
GPathogenic
SPG11
(F84L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SPG11
(G6R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
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