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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USP53
(R415* +4 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
+1 more
GPathogenic/Likely pathogenic
ZNF808
(Y414* +1 more)
Duplication
(nonsense)
See cases
GLikely pathogenic
UBE3C
(D667fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
+1 more
GPathogenic/Likely pathogenic
HECTD4
(Q2123* +1 more)
Single nucleotide variant
(nonsense)
See cases
GLikely pathogenic
PDIA6
(R232fs +4 more)
Deletion
(frameshift variant)
See cases
GLikely pathogenic
FRA10AC1
(R161*)
Single nucleotide variant
(nonsense +1 more)
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
+1 more
GPathogenic
NEMF
Duplication
(nonsense)
See cases
GPathogenic
WNT7B
(R98*)
Single nucleotide variant
(nonsense)
Matthew-Wood syndrome
+1 more
GPathogenic
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