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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860498, WASHC5
Single nucleotide variant
(splice donor variant)
Ritscher-Schinzel syndrome 1
GPathogenic
CCDC22
(T17A)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GPathogenic
CCDC22
(Y557C)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GPathogenic
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