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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS2, POLR1C
(S332N)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, progressive, with ovarian failure
GUncertain significance
AARS2, POLR1C
(R826*)
Single nucleotide variant
(nonsense +1 more)
Leukoencephalopathy, progressive, with ovarian failure
GLikely pathogenic
AARS2, POLR1C
(T871fs)
Duplication
(frameshift variant +1 more)
Leukoencephalopathy, progressive, with ovarian failure
GPathogenic
POLR1C, AARS2
(M268I)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, progressive, with ovarian failure
GLikely pathogenic
AARS2, POLR1C
Single nucleotide variant
(intron variant)
Leukoencephalopathy, progressive, with ovarian failure
GLikely pathogenic
AARS2, POLR1C
(P303T)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, progressive, with ovarian failure
GUncertain significance
AARS2, POLR1C
(Y565*)
Single nucleotide variant
(nonsense +1 more)
Leukoencephalopathy, progressive, with ovarian failure
GLikely pathogenic
AARS2, POLR1C
(L30fs)
Duplication
(frameshift variant +1 more)
Leukoencephalopathy, progressive, with ovarian failure
GPathogenic
AARS2, POLR1C
(N563Y)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, progressive, with ovarian failure
GUncertain significance
AARS2, POLR1C
Insertion
(intron variant)
not provided
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AARS2, POLR1C
(I339V)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+2 more
GBenign
AARS2, POLR1C
(A386V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
AARS2, POLR1C
(T129P)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, with ovarian failure
GLikely pathogenic
AARS2, POLR1C
(C149Y)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, with ovarian failure
GLikely pathogenic
AARS2, POLR1C
(W624*)
Single nucleotide variant
(nonsense)
Leukoencephalopathy, progressive, with ovarian failure
GPathogenic
AARS2, POLR1C
(Q261fs)
Deletion
(frameshift variant)
Leukoencephalopathy, progressive, with ovarian failure
+1 more
GLikely pathogenic
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
POLR1C, AARS2
(R199C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
POLR1C, AARS2
Deletion
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(E405K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR1C, AARS2
(G965R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AARS2, POLR1C
(R521*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
AARS2, POLR1C
(F50C)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, with ovarian failure
GPathogenic
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
AARS2, POLR1C
(R471Q)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, with ovarian failure
+3 more
GBenign/Likely benign
AARS2, POLR1C
(D287E)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
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