U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HUWE1
(D188N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(R2085H +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+2 more
GPathogenic/Likely pathogenic
ATRX
(N1730Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(T451I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
Format
Sort by
Choose Destination