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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP104
(R215*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder, autosomal recessive 77
GPathogenic
CEP104, LOC126805586
(L634fs)
Duplication
(frameshift variant)
Intellectual developmental disorder, autosomal recessive 77
GPathogenic
CEP104
(C786fs)
Insertion
(frameshift variant)
Intellectual developmental disorder, autosomal recessive 77
GPathogenic
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