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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR3A, LOC126860971
(D148*)
Duplication
(nonsense)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
LOC126860971, POLR3A
(R140*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC126860971, POLR3A
(K123del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
POLR3A, LOC126860971
(P91L)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
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