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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOX3
(S286G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX3
Duplication
(inframe_insertion)
Pulmonic stenosis
+28 more
GConflicting classifications of pathogenicity
SOX3
Indel
(inframe_insertion)
SOX3-related condition
+1 more
GConflicting classifications of pathogenicity
SOX3
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
SOX3
Deletion
(inframe_deletion)
Panhypopituitarism, X-linked
+4 more
GBenign/Likely benign
SOX3
Deletion
(inframe_deletion)
not specified
+1 more
GLikely benign
SOX3
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
SOX3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
SOX3
(G133V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SOX3
(P103T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
LOC108281134, SOX3
(V53L)
Single nucleotide variant
(missense variant)
History of neurodevelopmental disorder
+3 more
GConflicting classifications of pathogenicity
LOC108281134, SOX3
(A43T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
LOC108281134, SOX3
(P40S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108281134, SOX3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LOC108281134, SOX3
(I26T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
LOC108281134, SOX3
(R5Q)
Single nucleotide variant
(missense variant)
SOX3-related condition
+5 more
GBenign/Likely benign
LOC108281134, SOX3
Single nucleotide variant
not provided
GUncertain significance
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