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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKRF, UBE2A
Copy number loss
Syndromic X-linked intellectual disability Nascimento type
GPathogenic
UBE2A
(Q114* +2 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Nascimento type
GLikely pathogenic
UBE2A
(P118T +2 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Nascimento type
GUncertain significance
UBE2A
(F13L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Syndromic X-linked intellectual disability Nascimento type
GUncertain significance
UBE2A
(V108fs +2 more)
Microsatellite
(frameshift variant)
Syndromic X-linked intellectual disability Nascimento type
GLikely pathogenic
UBE2A
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Nascimento type
GLikely pathogenic
UBE2A
(R95C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UBE2A
(E29K +1 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Nascimento type
GUncertain significance
UBE2A
Deletion
(splice acceptor variant)
Syndromic X-linked intellectual disability Nascimento type
GLikely pathogenic
UBE2A
(D68del +2 more)
Microsatellite
(inframe_deletion)
Syndromic X-linked intellectual disability Nascimento type
GLikely pathogenic
UBE2A
(T99A +2 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Nascimento type
GUncertain significance
UBE2A
Deletion
(5 prime UTR variant +1 more)
Syndromic X-linked intellectual disability Nascimento type
GLikely pathogenic
UBE2A
Copy number loss
Syndromic X-linked intellectual disability Nascimento type
GPathogenic
UBE2A
(R135W +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
UBE2A
(Q125fs +2 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Nascimento type
GLikely pathogenic
UBE2A
(G23R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Syndromic X-linked intellectual disability Nascimento type
GPathogenic
UBE2A
(R11Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Syndromic X-linked intellectual disability Nascimento type
GPathogenic
UBE2A
(Q128* +2 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Nascimento type
GPathogenic
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