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Links from MedGen

Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS1
(D199V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease axonal type 2N
GLikely pathogenic
AARS1
(H605Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GLikely pathogenic
AARS1
(E363Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
(R326P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GPathogenic
AARS1
(S731W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GPathogenic
AARS1
(W104*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic/Likely pathogenic
AARS1
(K365E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1
(D394Y)
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
(W919*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2N
+2 more
GUncertain significance
AARS1
(T505M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
(E337K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
AARS1
(N657D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
AARS1
(D482Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
(R391C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
AARS1
(K762R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+1 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
AARS1
(D316Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2N
GLikely benign
AARS1
(E705K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
AARS1
(M370I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
AARS1
(G459R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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
GUncertain significance
AARS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2N
GBenign
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2N
+1 more
GConflicting classifications of pathogenicity
AARS1
(E545K)
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
+1 more
GBenign/Likely benign
AARS1
(T348M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2N
+1 more
GBenign/Likely benign
AARS1
(A144T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+3 more
GConflicting classifications of pathogenicity
AARS1
(Q206H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+1 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2N
+2 more
GConflicting classifications of pathogenicity
ATL3
(I446M +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
AARS1
(M242I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
AARS1
(T608M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GConflicting classifications of pathogenicity
AARS1
(Q588*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
(R326W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GConflicting classifications of pathogenicity
AARS1
(N71S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GUncertain significance
AARS1
(F110L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GLikely pathogenic
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2N
+1 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2N
+2 more
GConflicting classifications of pathogenicity
AARS1
(R320H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2N
+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
(N340S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+2 more
GLikely benign
AARS1
Single nucleotide variant
(synonymous variant)
AARS1-related disorder
+4 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
AARS1
Single nucleotide variant
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
(E22K)
Single nucleotide variant
(missense variant)
AARS1-related disorder
+3 more
GBenign/Likely benign
AARS1
(T31A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+1 more
GUncertain significance
AARS1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2N
+3 more
GBenign/Likely benign
AARS1
(A269G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
(G275D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
AARS1
(A302T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2N
+1 more
GConflicting classifications of pathogenicity
AARS1
(I374V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
AARS1
(Y418C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2N
+1 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2N
+2 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
AARS1
(E537D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
AARS1
(R616C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+3 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2N
+2 more
GConflicting classifications of pathogenicity
AARS1
(P710L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
AARS1
(K747R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
(R793T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(synonymous variant)
AARS1-related disorder
+5 more
GConflicting classifications of pathogenicity
AARS1
(A866T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
AARS1
(N911S)
Single nucleotide variant
(missense variant)
AARS1-related disorder
+5 more
GConflicting classifications of pathogenicity
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
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
+1 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+3 more
GBenign
AARS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+8 more
GBenign/Likely benign
AARS1
(S494I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GConflicting classifications of pathogenicity
AARS1
(R729Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
AARS1
(D173G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GConflicting classifications of pathogenicity
AARS1
(R633C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
AARS1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
AARS1
(K820R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GLikely benign
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