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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC47
(N188fs)
Deletion
(frameshift variant)
Trichohepatoneurodevelopmental syndrome
GPathogenic
CCDC47
Duplication
(nonsense +1 more)
Trichohepatoneurodevelopmental syndrome
GLikely pathogenic
CCDC47
Single nucleotide variant
(intron variant)
Trichohepatoneurodevelopmental syndrome
GUncertain significance
CCDC47
Single nucleotide variant
(intron variant)
Trichohepatoneurodevelopmental syndrome
GBenign
CCDC47
Single nucleotide variant
(intron variant)
Trichohepatoneurodevelopmental syndrome
GBenign
CCDC47
(E190fs)
Deletion
(frameshift variant)
Trichohepatoneurodevelopmental syndrome
GLikely pathogenic
CCDC47
(L382fs)
Deletion
(frameshift variant)
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair
GLikely pathogenic
CCDC47
(R271*)
Single nucleotide variant
(nonsense)
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair
GLikely pathogenic
CCDC47
(S389fs)
Deletion
(frameshift variant)
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair
GLikely pathogenic
CCDC47
(R397*)
Single nucleotide variant
(nonsense)
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair
+1 more
GPathogenic/Likely pathogenic
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