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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108281134, SOX3
(A54T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC108281134, SOX3
(V53L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC108281134, SOX3
(E46K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC108281134, SOX3
(A43T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
LOC108281134, SOX3
(R5Q)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, with panhypopituitarism
+3 more
GBenign/Likely benign
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