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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THAP12
(K730N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
THAP12
(T577A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
THAP12
(M313V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
THAP12
(D266N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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