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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PUF60
(D493G +9 more)
Single nucleotide variant
(missense variant)
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
GPathogenic
PUF60
(Q315* +9 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PUF60
(Q152fs +9 more)
Microsatellite
(frameshift variant)
8q24.3 microdeletion syndrome
+1 more
GPathogenic
PUF60
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GPathogenic
PUF60
(K106fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
GPathogenic
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