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Items: 1 to 100 of 1425

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059466, LOC130059467
+1738 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+599 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
LOC128772417, LOC128772418
+939 more
Copy number gain
See cases
GPathogenic
ACD, ACSF3
+1429 more
Copy number gain
See cases
GPathogenic
LOC130059153, LOC130059154
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+869 more
Copy number gain
See cases
GPathogenic
AARS1, AP1G1
+263 more
Copy number loss
See cases
GPathogenic
AARS1, ADAMTS18
+572 more
Copy number gain
See cases
GPathogenic
AARS1, CLEC18A
+57 more
Copy number loss
See cases
GUncertain significance
AARS1, CALB2
+84 more
Copy number gain
See cases
GUncertain significance
AARS1, ADAT1
+295 more
Copy number loss
See cases
GPathogenic
AARS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2N
+1 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2N
GLikely benign
AARS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2N
GBenign
AARS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
AARS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1, COG4
+27 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(stop lost)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(K967N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AARS1
(K967M)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
AARS1
(G964R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(L961P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(Q960H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AARS1
(Q960P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(F958S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GLikely pathogenic
AARS1
(F958fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
AARS1
(S957Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(S957C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(T956S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(T956I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(A955P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(Q953H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(E950V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(Q949E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(G946V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(T941R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(T941I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(A940V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(A940S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(Q939H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(G931S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GBenign/Likely benign
AARS1
(G929S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(G929R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(S924A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
AARS1
(Q922L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(W919*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2N
+2 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(E918K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(S917R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Duplication
(splice acceptor variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
AARS1
Deletion
(nonsense)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(G913V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(G913D)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
+2 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(R912Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(N911S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
AARS1
(A910T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(N908K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Deletion
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Deletion
(intron variant)
not provided
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(Q907R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(P906A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
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