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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KARS1
(V343A +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 89
+1 more
GConflicting classifications of pathogenicity
KARS1
(Y112* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 89
GPathogenic