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Items: 1 to 100 of 1667

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DARS2
(R609W +1 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
+1 more
GUncertain significance
DAB1
Insertion
Spinocerebellar ataxia type 37
GPathogenic
PNPT1
(A507S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
+5 more
GConflicting classifications of pathogenicity
ALS2
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 2, juvenile
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 2, juvenile
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 2, juvenile
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 2, juvenile
+1 more
GBenign
ALS2
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic Lateral Sclerosis, Recessive
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GLikely benign
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
ALS2
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 2, juvenile
+1 more
GBenign
ALS2
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 2, juvenile
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 2, juvenile
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 2, juvenile
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GBenign
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GLikely benign
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+2 more
GLikely benign
ALS2
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 2, juvenile
+2 more
GBenign/Likely benign
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-related disorder
+1 more
GUncertain significance
ALS2
(K1655T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ALS2
(R1653H)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
+2 more
GUncertain significance
ALS2
(R1653C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 2, juvenile
+3 more
GUncertain significance
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(splice acceptor variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
(Q1637R)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
(Q1637*)
Single nucleotide variant
(nonsense)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
(Q1633*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ALS2
(D1628G +1 more)
Single nucleotide variant
(missense variant)
ALS2-related disorder
GUncertain significance
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
(D1626E)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
(I1624T)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
(V1621I)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
(E1620K)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Deletion
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(splice donor variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely pathogenic
ALS2
Deletion
(splice donor variant)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
(R1613W)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
(R1610P +1 more)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
(R1611Q)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GConflicting classifications of pathogenicity
ALS2
(Y1607F)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
+1 more
GUncertain significance
ALS2
(L1606S +1 more)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
(P1603L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 2, juvenile
GLikely pathogenic
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
+5 more
GBenign/Likely benign
ALS2
(A1588V)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
(S1585fs)
Microsatellite
(frameshift variant)
Amyotrophic lateral sclerosis type 2, juvenile
GLikely pathogenic
ALS2
(Q1584L +1 more)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
(T1578I)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
(V1574fs)
Deletion
(frameshift variant)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
(D1570H +1 more)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ALS2
(T1547M)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
(T1546A)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
(V1543F)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
+2 more
GConflicting classifications of pathogenicity
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ALS2
Deletion
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GBenign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALS2
Single nucleotide variant
(synonymous variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
(P1531A +1 more)
Single nucleotide variant
(missense variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GUncertain significance
ALS2
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
+4 more
GBenign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
ALS2
(V1525fs)
Duplication
(frameshift variant)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic/Likely pathogenic
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