"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500309	NM_002971.6(SATB1):c.2137G>T (p.Glu713Ter)	SATB1 (E641* +2 more)	Single nucleotide variant (nonsense)	Kohlschutter-Tonz syndrome-like	GLikely pathogenic
Select item 1679146	NM_002971.6(SATB1):c.1925G>A (p.Arg642Gln)	SATB1 (R570Q +2 more)	Single nucleotide variant (missense variant)	Developmental delay with dysmorphic facies and dental anomalies	GUncertain significance
Select item 2578423	NM_002971.6(SATB1):c.1896dup (p.Ser633fs)	SATB1 (S561fs +2 more)	Duplication (frameshift variant)	Developmental delay with dysmorphic facies and dental anomalies	GLikely pathogenic
Select item 3376133	NM_002971.6(SATB1):c.1597C>T (p.Arg533Cys)	SATB1 (R461C +1 more)	Single nucleotide variant (missense variant)	Developmental delay with dysmorphic facies and dental anomalies	GLikely pathogenic
Select item 1050816	NM_002971.6(SATB1):c.1219G>C (p.Glu407Gln)	SATB1 (E335Q +1 more)	Single nucleotide variant (missense variant)	Developmental delay with dysmorphic facies and dental anomalies +1 more	GPathogenic
Select item 1325808	NM_002971.6(SATB1):c.1139G>A (p.Arg380His)	SATB1 (R308H +1 more)	Single nucleotide variant (missense variant)	Kohlschutter-Tonz syndrome-like +1 more	GUncertain significance
Select item 1330209	GRCh37/hg19 3p24.3(chr3:18004128-19575641)x1	KCNH8, SATB1	Copy number loss	Developmental delay with dysmorphic facies and dental anomalies	GPathogenic

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