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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KARS1
(K141Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 89
+1 more
GUncertain significance
KARS1
(P349A +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 89
GUncertain significance
KARS1, LOC126862402
(E297Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 89
GUncertain significance
KARS1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 89
GPathogenic
KARS1
(I110T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KARS1
Deletion
(intron variant)
not provided
+4 more
GBenign/Likely benign
KARS1, LOC126862402
(A526V +2 more)
Single nucleotide variant
(missense variant)
Leukodystrophy
+4 more
GConflicting classifications of pathogenicity
KARS1
(F291V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
Leukoencephalopathy
+1 more
GPathogenic
LOC126862402, KARS1
(R477H +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 89
GPathogenic
KARS1
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 89
GLikely benign
KARS1
(E120Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
KARS1
(T623S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 89
+2 more
GBenign
KARS1
(P200L +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
+7 more
GPathogenic/Likely pathogenic
KARS1
(D377N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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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