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Items: 1 to 100 of 313

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAM2, NDUFV3
+1159 more
Copy number gain
See cases
GPathogenic
PDE9A-AS1, PDXK
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066843, LOC130066844
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653343, LOC126653344
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GUncertain significance
LINC00315, LINC00316
+1160 more
Copy number gain
See cases
GPathogenic
ATP5PF, ATP5PO
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653350, LOC126653351
+1159 more
Copy number gain
See cases
GPathogenic
LINC00111, LINC00112
+1160 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+643 more
Copy number loss
See cases
GPathogenic
TSPEAR-AS1, TSPEAR-AS2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066578, LOC130066579
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653316, LOC126653317
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066717, LOC130066718
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC125418051, LOC125418052
+1159 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+884 more
Copy number gain
See cases
GPathogenic
HSF2BP, HSPA13
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066756, LOC130066757
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
KRTAP12-3, KRTAP12-4
+1157 more
Copy number gain
See cases
GPathogenic
LOC107403153, LOC107548109
+1155 more
Copy number gain
See cases
GPathogenic
SON, SPATC1L
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066735, LOC130066736
+1156 more
Copy number loss
See cases
GPathogenic
ADAMTS1, ADAMTS5
+213 more
Copy number loss
See cases
GPathogenic
CCT8, CLDN17
+215 more
Copy number loss
Monosomy 21
GPathogenic
HUNK, LINC00159
+27 more
Copy number loss
See cases
GPathogenic
LOC130066532, SOD1
+1 more
Single nucleotide variant
not provided
GLikely benign
LOC130066532, SOD1
+1 more
Single nucleotide variant
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GLikely benign
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant)
not provided
+1 more
GBenign
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant)
Amyotrophic lateral sclerosis type 1
+1 more
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant)
Amyotrophic lateral sclerosis type 1
GBenign
SOD1, SOD1-DT
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 1
GBenign
SOD1, SOD1-DT
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant +1 more)
SOD1-related disorder
GLikely benign
SOD1, SOD1-DT
(K4E)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
(A5S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
(A5T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
+1 more
GPathogenic
SOD1, SOD1-DT
(A5V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
(V6M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(V6A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(C7G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(C7S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
(C7F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
(L9V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(L9Q)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1-DT, SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
SOD1, SOD1-DT
(D12Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(G13R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
(V15L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(V15M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic/Likely pathogenic
SOD1, SOD1-DT
(V15G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(G17C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1-DT, SOD1
(G17S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
(G17A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
+1 more
GPathogenic/Likely pathogenic
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SOD1, SOD1-DT
(I19F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(I19T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(N20I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(N20S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
+1 more
GConflicting classifications of pathogenicity
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
(F21C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1-DT, SOD1
(F21L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(E22K)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GConflicting classifications of pathogenicity
SOD1, SOD1-DT
(Q23P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(Q23L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic/Likely pathogenic
SOD1, SOD1-DT
(Q23H)
Single nucleotide variant
(missense variant)
SOD1-related disorder
+1 more
GLikely pathogenic
SOD1, SOD1-DT
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+1 more
GBenign/Likely benign
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GUncertain significance
LOC130066533, SOD1
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
SOD1
Single nucleotide variant
(intron variant)
not provided
GBenign
SOD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SOD1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+1 more
GBenign/Likely benign
SOD1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1
Duplication
(inframe_insertion)
not provided
GUncertain significance
SOD1
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
SOD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
SOD1
(K31N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1
(V32A)
Single nucleotide variant
(missense variant)
Spastic tetraplegia and axial hypotonia, progressive
+2 more
GConflicting classifications of pathogenicity
SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1
(W33R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOD1
(I36F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SOD1
(G38R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1
(G38R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
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