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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108281134, SOX3
(P64del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
SOX3
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+2 more
GBenign/Likely benign
SOX3
Deletion
(inframe_deletion)
not specified
+3 more
GBenign/Likely benign
LOC108281134, SOX3
(R5Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SOX3
Duplication
(inframe_insertion)
Panhypopituitarism, X-linked
GPathogenic
SOX3
Insertion
Panhypopituitarism, X-linked
GPathogenic
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