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Items: 1 to 100 of 1144

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860963, LOC126860964
+1008 more
Copy number gain
See cases
GPathogenic
ADAMTS14, ADK
+580 more
Copy number gain
See cases
GPathogenic
DLG5, DLG5-AS1
+17 more
Copy number gain
See cases
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Deletion
(3 prime UTR variant)
Pol III-related leukodystrophy
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Deletion
(3 prime UTR variant)
Pol III-related leukodystrophy
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Deletion
(3 prime UTR variant)
Pol III-related leukodystrophy
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Pol III-related leukodystrophy
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukodystrophy
+1 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
POLR3A
(T1390I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3A
(E1383D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3A
(T1381A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A
(D1380N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3A
(L1377V)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(P1376S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A
(P1376T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
POLR3A
(R1375S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3A
(D1369E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3A
Single nucleotide variant
(synonymous variant)
POLR3A-related condition
GLikely benign
POLR3A
(F1360S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A
(G1358E)
Single nucleotide variant
(missense variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
GLikely pathogenic
POLR3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
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