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Items: 1 to 100 of 577

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD66, C6orf201
+2580 more
Copy number gain
See cases
GPathogenic
AARS2, ABCC10
+435 more
Copy number loss
See cases
GPathogenic
LOC123620117, LOC123620118
+324 more
Copy number loss
See cases
GPathogenic
LOC132089385, LOC132089386
+221 more
Copy number loss
See cases
GPathogenic
AARS2, CAPN11
+85 more
Copy number gain
See cases
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
GBenign
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GBenign
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Insertion
(3 prime UTR variant)
Combined oxidative phosphorylation deficiency
GBenign
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
GBenign
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
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GBenign
AARS2, POLR1C
Deletion
(3 prime UTR variant)
Combined oxidative phosphorylation deficiency
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
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
GBenign
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Deletion
(3 prime UTR variant)
Combined oxidative phosphorylation deficiency
GUncertain significance
AARS2, POLR1C
Deletion
(3 prime UTR variant)
Combined oxidative phosphorylation deficiency
GBenign
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
Duplication
(3 prime UTR variant)
Combined oxidative phosphorylation deficiency
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
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
GBenign
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
Insertion
(3 prime UTR variant)
Combined oxidative phosphorylation deficiency
GBenign
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Insertion
(3 prime UTR variant)
Combined oxidative phosphorylation deficiency
GBenign
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
GBenign
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
GBenign
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GBenign
AARS2, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 8
GBenign
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
(3 prime UTR variant)
not provided
GBenign
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
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(Q984H)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AARS2, POLR1C
(D969Y)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
POLR1C, AARS2
(G965R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AARS2, POLR1C
(Q962*)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 8
GPathogenic
AARS2, POLR1C
(R958*)
Inversion
(nonsense +1 more)
not provided
GPathogenic
AARS2, POLR1C
(R958*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GLikely pathogenic
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
Leukoencephalopathy, progressive, with ovarian failure
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(no sequence alteration)
not specified
GBenign
AARS2, POLR1C
(A954V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(A954T)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(M950I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AARS2, POLR1C
(T938P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR1C, AARS2
(G932S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+1 more
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AARS2, POLR1C
Insertion
(intron variant)
not provided
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AARS2, POLR1C
(Q928R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AARS2, POLR1C
(T910fs)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR1C, AARS2
(T910M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AARS2, POLR1C
(T910R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AARS2, POLR1C
(P908S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(Q906H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AARS2, POLR1C
(R901Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
AARS2, POLR1C
(R901G)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
(R901W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AARS2, POLR1C
Single nucleotide variant
(intron variant +1 more)
Combined oxidative phosphorylation defect type 8
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
Inversion
(intron variant)
not provided
GUncertain significance
AARS2, POLR1C
Single nucleotide variant
(intron variant)
Leukoencephalopathy, progressive, with ovarian failure
+2 more
GBenign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AARS2, POLR1C
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
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