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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARS2, LARS2-AS1
(I360fs)
Deletion
(frameshift variant)
Perrault syndrome 4
GPathogenic
LARS2, LARS2-AS1
(R453Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARS2, LARS2-AS1
(T519M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARS2, LARS2-AS1
(T522N)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
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