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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRPX2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
SRPX2
(S150F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
SRPX2
Single nucleotide variant
(synonymous variant)
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
+1 more
GBenign/Likely benign
SRPX2
(H231Q)
Single nucleotide variant
(missense variant)
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
+3 more
GConflicting classifications of pathogenicity
SRPX2
(N327S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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