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Links from Gene

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OGDHL
(G179A +5 more)
Single nucleotide variant
(missense variant +1 more)
Yoon-Bellen neurodevelopmental syndrome
GUncertain significance
OGDHL
(G263R +5 more)
Single nucleotide variant
(missense variant +1 more)
Yoon-Bellen neurodevelopmental syndrome
GUncertain significance
OGDHL
Single nucleotide variant
(splice acceptor variant)
Yoon-Bellen neurodevelopmental syndrome
GLikely pathogenic
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