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Links from MedGen

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS1
(E661*)
Duplication
(nonsense)
Developmental and epileptic encephalopathy, 29
GPathogenic
AARS1
(R330Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GUncertain significance
AARS1
(R296Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
+1 more
GUncertain significance
AARS1
(T96I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GUncertain significance
AARS1
(A78S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GUncertain significance
AARS1
(N47K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GUncertain significance
AARS1
(K81E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GUncertain significance
AARS1
(L54P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
AARS1
(R633fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 29
GLikely pathogenic
AARS1
(S29F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GUncertain significance
AARS1
(Y690fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 29
GPathogenic
AARS1
(R750W)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
+2 more
GUncertain significance
AARS1
(P596S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GUncertain significance
AARS1
(C525Y)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GLikely pathogenic
AARS1
(S188L)
Inversion
(missense variant)
Developmental and epileptic encephalopathy, 29
GPathogenic
AARS1
(E99G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GPathogenic
AARS1
(N657D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
AARS1
(G581S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
+1 more
GConflicting classifications of pathogenicity
AARS1
(Y25C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
+2 more
GUncertain significance
AARS1
(V666A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
+2 more
GConflicting classifications of pathogenicity
AARS1
(R330*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 29
+1 more
GPathogenic
AARS1
(T260A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
+1 more
GConflicting classifications of pathogenicity
AARS1
(M242I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
AARS1
(F958S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GLikely pathogenic
AARS1
(R320H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
+5 more
GUncertain significance
AARS1
(Y334F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GConflicting classifications of pathogenicity
AARS1
(D87N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AARS1
Duplication
(intron variant)
not specified
+4 more
GLikely benign
AARS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+8 more
GBenign/Likely benign
AARS1
(G913D)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
+2 more
GConflicting classifications of pathogenicity
AARS1
(R729Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
AARS1
(K967M)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
AARS1
(P234S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+7 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(intron variant)
Leukoencephalopathy, hereditary diffuse, with spheroids 2
+7 more
GBenign/Likely benign
AARS1
(R751G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
AARS1
(K81T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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