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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOX3
(R422H)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, with panhypopituitarism
GUncertain significance
LOC108281134, SOX3
(K85Q)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, with panhypopituitarism
GUncertain significance
SOX3
(A113T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC108281134, SOX3
(N7S)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, with panhypopituitarism
GUncertain significance
SOX3
(V264G)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, with panhypopituitarism
GUncertain significance
LOC108281134, SOX3
(R5P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SOX3
(S150Y)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, with panhypopituitarism
GLikely pathogenic
SOX3
Deletion
(inframe_deletion)
not specified
+4 more
GBenign/Likely benign
LOC108281134, SOX3
(R5Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
SOX3
Duplication
(inframe_insertion)
Intellectual disability, X-linked, with panhypopituitarism
+28 more
GConflicting classifications of pathogenicity
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