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Links from MedGen

Items: 1 to 100 of 158

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS2, POLR1C
(R625C)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(R322C)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 8
GPathogenic
AARS2, POLR1C
(S361F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(intron variant +1 more)
Combined oxidative phosphorylation defect type 8
GPathogenic
AARS2, POLR1C
(V264M)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 8
GLikely pathogenic
POLR1C, AARS2
(R854H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
AARS2
Copy number loss
Combined oxidative phosphorylation defect type 8
Gnot provided
AARS2, POLR1C
Single nucleotide variant
(intron variant +1 more)
Combined oxidative phosphorylation defect type 8
GPathogenic
AARS2, POLR1C
Insertion
(intron variant)
Combined oxidative phosphorylation defect type 8
+2 more
GBenign
POLR1C, AARS2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 8
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 8
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
Leukoencephalopathy, progressive, with ovarian failure
+2 more
GBenign
AARS2, POLR1C
(I339V)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, with ovarian failure
+2 more
GBenign
AARS2, POLR1C
(S282C)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GPathogenic
AARS2, POLR1C
(R93*)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 8
GPathogenic
AARS2, POLR1C
(P217S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(Q158K)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(A386V)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+3 more
GUncertain significance
AARS2, POLR1C
(W153*)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 8
GLikely pathogenic
AARS2, POLR1C
(Q962*)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 8
GPathogenic
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(Q669K)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GLikely benign
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(E314K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
POLR1C, AARS2
(L350P)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(A741T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
POLR1C, AARS2
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GBenign
POLR1C, AARS2
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(I766S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(R28G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(S879W)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(E891K)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(R901G)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(intron variant +1 more)
Combined oxidative phosphorylation defect type 8
GLikely pathogenic
AARS2, POLR1C
(D227N)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+1 more
GUncertain significance
AARS2, POLR1C
(L844P)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GLikely pathogenic
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(intron variant +1 more)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(Q463*)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(intron variant +1 more)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(Q676P)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GPathogenic
AARS2, POLR1C
Single nucleotide variant
(intron variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(A786T)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GPathogenic
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(A8S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(A9T)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+2 more
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(intron variant)
Leukoencephalopathy, progressive, with ovarian failure
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(G254A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(R262Q)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+2 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(P291L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(V323M)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+1 more
GUncertain significance
AARS2, POLR1C
(R329C)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GConflicting classifications of pathogenicity
AARS2, POLR1C
(M362L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
AARS2, POLR1C
(R482W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AARS2, POLR1C
(D512H)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency
+1 more
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
AARS2-related disorder
+2 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 8
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(R554H)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+2 more
GLikely benign
AARS2, POLR1C
(R561T)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+1 more
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
AARS2, POLR1C
(R711H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(R756C)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+1 more
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Leukoencephalopathy, progressive, with ovarian failure
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 8
+1 more
GConflicting classifications of pathogenicity
POLR1C, AARS2
(G932S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+1 more
GUncertain significance
AARS2, POLR1C
(A954T)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Leukoencephalopathy, progressive, with ovarian failure
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
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