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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPC4
(R351*)
Single nucleotide variant
(nonsense)
Keipert syndrome
GPathogenic
CDH11
(L77F)
Single nucleotide variant
(missense variant +1 more)
Teebi hypertelorism syndrome 2
GLikely pathogenic
U2AF2
(P157L)
Single nucleotide variant
(missense variant)
Leukodystrophy
GLikely pathogenic
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