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Items: 1 to 100 of 1010

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABI2, AGPS
+697 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
LOC129935413, LOC129935414
+1097 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
ABCA12, ABCB6
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
FAM117B, FAM237A
+509 more
Copy number loss
See cases
GPathogenic
LOC126806461, LOC126806467
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ALS2
+279 more
Copy number loss
See cases
GPathogenic
AOX1, BOLL
+145 more
Copy number loss
See cases
GLikely pathogenic
ALS2, AOX1
+117 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+298 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
ALS2, C2CD6
+11 more
Copy number loss
See cases
GPathogenic
ALS2, CDK15
+25 more
Copy number gain
See cases
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+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)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+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
GBenign
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GLikely benign
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GBenign
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GBenign
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+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)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GLikely benign
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(3 prime UTR variant)
ALS2-Related Disorders
+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 Disorders
+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)
not provided
+3 more
GUncertain significance
ALS2
(Y1649S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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)
not provided
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALS2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
Single nucleotide variant
(synonymous variant)
not provided
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)
Infantile-onset ascending hereditary spastic paralysis
+1 more
GConflicting classifications of pathogenicity
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
(R1611W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
ALS2
(Y1607F)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+1 more
GUncertain significance
ALS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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)
ALS2-Related Disorders
+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
(synonymous variant)
Hereditary spastic paraplegia
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)
not provided
GBenign
ALS2
Single nucleotide variant
(intron variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely benign
ALS2
(E1556G +1 more)
Single nucleotide variant
(missense variant)
Tip-toe gait
GLikely pathogenic
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