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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MBD5
(R215H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MBD5
(S460L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
+2 more
GConflicting classifications of pathogenicity
MBD5
(R491T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MBD5
(S1033I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
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