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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108281177, SOX2
+1 more
(G21fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
SOX2-OT, LOC108281177
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LOC108281177, SOX2
+1 more
(N24fs)
Deletion
(frameshift variant)
SOX2-related condition
+3 more
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
LOC108281177, SOX2
+1 more
(T26A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC108281177, SOX2
+1 more
Indel
(inframe_indel)
not provided
GUncertain significance
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+2 more
GBenign
LOC108281177, SOX2
+1 more
(Y160*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+1 more
GPathogenic
LOC108281177, SOX2
+1 more
(Q175*)
Duplication
(nonsense)
not provided
GPathogenic
SOX2, SOX2-OT
(M217I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
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