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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBA2
(R516W +1 more)
Single nucleotide variant
(missense variant)
ACCES syndrome
GUncertain significance
UBA2
Single nucleotide variant
(splice acceptor variant)
ACCES syndrome
GPathogenic
UBA2
Single nucleotide variant
(splice donor variant)
ACCES syndrome
GPathogenic
UBA2
(R59G)
Single nucleotide variant
(5 prime UTR variant +1 more)
ACCES syndrome
GUncertain significance
UBA2
(R373fs)
Deletion
(frameshift variant)
ACCES syndrome
GPathogenic
UBA2
(E205fs)
Deletion
(frameshift variant)
ACCES syndrome
GPathogenic
UBA2
(F109fs)
Deletion
(frameshift variant)
ACCES syndrome
GPathogenic
UBA2
(Y442fs)
Duplication
(frameshift variant)
ACCES syndrome
GPathogenic
UBA2
(E483K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC130064190, UBA2
(G24V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
UBA2
(R122G)
Single nucleotide variant
(missense variant)
Ectrodactyly
GUncertain significance
UBA2
(R122*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
UBA2
(W273fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
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