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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806462, SATB2
(E692*)
Single nucleotide variant
(nonsense)
Chromosome 2q32-q33 deletion syndrome
Gnot provided
LOC126806462, SATB2
(H673fs)
Duplication
(frameshift variant)
Chromosome 2q32-q33 deletion syndrome
Gnot provided
LOC126806462, SATB2
(S649fs)
Duplication
(frameshift variant)
Chromosome 2q32-q33 deletion syndrome
Gnot provided
SATB2
(R459*)
Single nucleotide variant
(nonsense)
Chromosome 2q32-q33 deletion syndrome
+4 more
GPathogenic
SATB2
(R429Q)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
+1 more
GPathogenic
SATB2
(E396Q)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
Gnot provided
SATB2
(Q391*)
Single nucleotide variant
(nonsense)
Chromosome 2q32-q33 deletion syndrome
Gnot provided
SATB2
(R389C)
Single nucleotide variant
(missense variant)
SATB2 associated disorder
+3 more
GPathogenic/Likely pathogenic
SATB2
(V381G)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
Gnot provided
SATB2
(R283*)
Single nucleotide variant
(nonsense)
SATB2 associated disorder
+4 more
GPathogenic
SATB2
(Q250*)
Single nucleotide variant
(nonsense)
Chromosome 2q32-q33 deletion syndrome
Gnot provided
SATB2
(R239*)
Single nucleotide variant
(nonsense)
Chromosome 2q32-q33 deletion syndrome
+2 more
GPathogenic
SATB2
Single nucleotide variant
(splice donor variant)
Chromosome 2q32-q33 deletion syndrome
Gnot provided
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