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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP1S2
(E107fs)
Deletion
(frameshift variant +1 more)
Pettigrew syndrome
GPathogenic
AP1S2
Single nucleotide variant
(3 prime UTR variant)
Pettigrew syndrome
GUncertain significance
AP1S2
(F7fs)
Deletion
(frameshift variant +1 more)
Pettigrew syndrome
GLikely pathogenic
AP1S2
Single nucleotide variant
(splice donor variant)
Pettigrew syndrome
GPathogenic
AP1S2
Single nucleotide variant
(splice acceptor variant)
Pettigrew syndrome
GPathogenic
AP1S2
(E107fs)
Deletion
(frameshift variant +1 more)
Pettigrew syndrome
GLikely pathogenic
AP1S2
Single nucleotide variant
(splice donor variant)
Pettigrew syndrome
GPathogenic/Likely pathogenic
AP1S2
(R14*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
CUL4B
(R896Q +3 more)
Single nucleotide variant
(missense variant)
Pettigrew syndrome
GLikely pathogenic
AP1S2
(F94fs)
Deletion
(frameshift variant +1 more)
Pettigrew syndrome
GPathogenic
AP1S2
Single nucleotide variant
(intron variant)
Pettigrew syndrome
GPathogenic
AP1S2
Single nucleotide variant
(splice donor variant)
Pettigrew syndrome
GPathogenic
AP1S2
(E76*)
Single nucleotide variant
(nonsense +1 more)
Pettigrew syndrome
GPathogenic
AP1S2
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
AP1S2
Deletion
(splice acceptor variant)
Pettigrew syndrome
GPathogenic
AP1S2
(R52*)
Single nucleotide variant
(nonsense +1 more)
Pettigrew syndrome
+1 more
GPathogenic
AP1S2
(Q36*)
Single nucleotide variant
(nonsense +1 more)
Pettigrew syndrome
GPathogenic
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