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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX6
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHD7
(F2015fs)
Deletion
(frameshift variant +1 more)
Iris coloboma
GPathogenic
TMEM67
Duplication
(inframe_insertion +1 more)
Nystagmus
+3 more
GLikely pathogenic
TFAP2A
(K340fs +2 more)
Deletion
(frameshift variant)
Hypertelorism
+13 more
GPathogenic
TMEM67
(R172* +1 more)
Single nucleotide variant
(nonsense +1 more)
RHYNS syndrome
+11 more
GPathogenic/Likely pathogenic
PRR12
(P304fs)
Duplication
(frameshift variant)
Neuroocular syndrome
+5 more
GPathogenic
PRR12
(L1501fs)
Deletion
(frameshift variant)
Abnormality of vision
+4 more
GPathogenic
PRR12
(E640*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
+5 more
GPathogenic
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