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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR1C
(R191Q)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 11
+1 more
GConflicting classifications of pathogenicity
POLR1C, RSPH9
(M92I)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
RSPH9, POLR1C
(R156* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
POLR1C, VEGFA
(R325* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
AARS2, POLR1C
(T910fs)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
AARS2, POLR1C
(R722Q)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+1 more
GUncertain significance
AARS2, POLR1C
(V507L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR1C, AARS2
(G254A)
Single nucleotide variant
(missense variant)
AARS2-related condition
+2 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(C218fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
AARS2, POLR1C
(R199C)
Single nucleotide variant
(missense variant)
Generalized muscle weakness
+4 more
GPathogenic/Likely pathogenic
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