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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTBN4
(L152R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
LOC130064467, SPTBN4
(P2384fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GLikely pathogenic