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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DPYSL5
Single nucleotide variant
(5 prime UTR variant)
Ritscher-Schinzel syndrome 4
GUncertain significance
DPYSL5
(S108F)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 4
GUncertain significance