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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SATB1
Microsatellite
(inframe_insertion)
Kohlschutter-Tonz syndrome-like
+1 more
GUncertain significance
SATB1
(Q243R +1 more)
Single nucleotide variant
(missense variant)
Kohlschutter-Tonz syndrome-like
GUncertain significance
SATB1
(E641* +2 more)
Single nucleotide variant
(nonsense)
Kohlschutter-Tonz syndrome-like
GLikely pathogenic
SATB1
(S237fs +1 more)
Duplication
(frameshift variant)
Kohlschutter-Tonz syndrome-like
GLikely pathogenic
SATB1
(V101M +1 more)
Single nucleotide variant
(missense variant)
Kohlschutter-Tonz syndrome-like
GUncertain significance
SATB1
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SATB1
(R308H +1 more)
Single nucleotide variant
(missense variant)
Kohlschutter-Tonz syndrome-like
+1 more
GUncertain significance
SATB1
(E335Q +1 more)
Single nucleotide variant
(missense variant)
Developmental delay with dysmorphic facies and dental anomalies
+1 more
GPathogenic
SATB1
(Q525R +1 more)
Single nucleotide variant
(missense variant)
Kohlschutter-Tonz syndrome-like
GLikely pathogenic
SATB1
(E407G +1 more)
Single nucleotide variant
(missense variant)
Kohlschutter-Tonz syndrome-like
GPathogenic
SATB1
(E530K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SATB1
(Q348R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
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