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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TELO2
(P260L)
Single nucleotide variant
(missense variant)
TELO2-related intellectual disability-neurodevelopmental disorder
+1 more
GConflicting classifications of pathogenicity
TELO2
(C367F)
Single nucleotide variant
(missense variant)
TELO2-related intellectual disability-neurodevelopmental disorder
+2 more
GConflicting classifications of pathogenicity
TELO2
(R609H)
Single nucleotide variant
(missense variant)
TELO2-related intellectual disability-neurodevelopmental disorder
+1 more
GPathogenic/Likely pathogenic
TELO2
(Q172*)
Single nucleotide variant
(splice donor variant +1 more)
TELO2-related intellectual disability-neurodevelopmental disorder
GPathogenic
TELO2
(D720V)
Single nucleotide variant
(missense variant)
TELO2-related intellectual disability-neurodevelopmental disorder
+1 more
GConflicting classifications of pathogenicity
TELO2
(V766M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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