U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PUS3, HYLS1
(M153K +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GUncertain significance
HYLS1, PUS3
(Q350* +1 more)
Single nucleotide variant
(nonsense +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GLikely pathogenic
HYLS1, PUS3
(A123fs)
Deletion
(frameshift variant +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GPathogenic/Likely pathogenic
Format
Sort by
Choose Destination