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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860498, WASHC5
(V1107M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+4 more
GBenign/Likely benign
LOC126860498, WASHC5
(I1099T +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+3 more
GUncertain significance