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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KARS1, LOC126862402
(C340S +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
GUncertain significance
KARS1
(I162T +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
KARS1
(S203L +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
GUncertain significance
KARS1
(L287P +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
GLikely pathogenic
KARS1
(C378Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KARS1
(K141Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 89
+1 more
GUncertain significance
KARS1
(P349R +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
GLikely pathogenic
KARS1
(P113A +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
GUncertain significance
KARS1
(A29P +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
+2 more
GConflicting classifications of pathogenicity
KARS1
(I238N +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
GUncertain significance
KARS1
(E525K +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
GPathogenic
KARS1
(R438W +2 more)
Single nucleotide variant
(missense variant)
KARS1-related disorder
GLikely pathogenic
KARS1
(T403M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KARS1
Deletion
(intron variant)
Charcot-Marie-Tooth disease recessive intermediate B
+4 more
GBenign/Likely benign
KARS1
(R258S +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
+2 more
GConflicting classifications of pathogenicity
KARS1
(E120Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate B
+5 more
GUncertain significance
KARS1
(P200L +2 more)
Single nucleotide variant
(missense variant)
KARS1-related disorder
+6 more
GPathogenic/Likely pathogenic
KARS1
(Y173H +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
+1 more
GConflicting classifications of pathogenicity
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