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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MROH6
(N635I)
Single nucleotide variant
(missense variant)
Autosomal recessive non-syndromic intellectual disability
GUncertain significance
EEF1D
(W316*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive non-syndromic intellectual disability
GPathogenic
ZFTRAF1, TMEM276
+1 more
(R87S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive non-syndromic intellectual disability
GUncertain significance
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