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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMTC3
(Y20C)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
TMTC3
(R177fs +4 more)
Duplication
(frameshift variant +1 more)
Lissencephaly 8
GLikely pathogenic
TMTC3
(G222C +4 more)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly 8
GUncertain significance
TMTC3
(E374A +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
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