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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COASY
(P24L)
Single nucleotide variant
(missense variant +2 more)
Neurodegeneration with brain iron accumulation 6
GUncertain significance
COASY
(Y38C +1 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 6
GUncertain significance
COASY
(L116del +1 more)
Deletion
(inframe_deletion)
Neurodegeneration with brain iron accumulation 6
GUncertain significance
COASY
(R499C +1 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 6
+2 more
GPathogenic
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