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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRBN, TRNT1
(C391R +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GLikely pathogenic
CRBN
(S213* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 2
+1 more
GLikely pathogenic
CRBN
(R144* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 2
+1 more
GPathogenic
CRBN
(E31K +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 2
GUncertain significance
CRBN
(M14L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CRBN
(A10G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 2
GUncertain significance
ARL8B, BHLHE40
+12 more
Copy number loss
not provided
GPathogenic
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