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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860498, WASHC5
Single nucleotide variant
(splice donor variant)
Ritscher-Schinzel syndrome 1
GPathogenic
WASHC5
(G696A +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
GPathogenic
WASHC5
(V626F +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+4 more
GPathogenic/Likely pathogenic
WASHC5
(L619F +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
WASHC5
(N471D +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
GPathogenic
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