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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WASHC5
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 8
GLikely pathogenic
WASHC5, WASHC5-AS1
(K950R +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 1
+1 more
GUncertain significance
WASHC5, WASHC5-AS1
(T697A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 8
+2 more
GUncertain significance
WASHC5
(R605C +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 1
GUncertain significance
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