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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A5
(A89E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia
+2 more
GBenign/Likely benign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia
+1 more
GBenign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia
+1 more
GBenign
SLC6A5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia
+2 more
GBenign
SLC6A5
(Y471C +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GBenign
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