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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRADD
(W131*)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, autosomal recessive 34
+1 more
GPathogenic
CRADD
(R168Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CRADD
(I106F)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 34
GUncertain significance
CRADD
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 34
GUncertain significance
CRADD
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 34
GUncertain significance
CRADD
(R166H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CRADD
(F164C)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 34
GPathogenic
CRADD
(R170H)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GPathogenic
CRADD
(R170C)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 34
GPathogenic
CRADD
(G128R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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