"SATB1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631838	NM_002971.6(SATB1):c.1937G>T (p.Arg646Leu)	SATB1 (R574L +2 more)	Single nucleotide variant (missense variant)	SATB1-related disorder	GUncertain significance
Select item 3031979	NM_002971.6(SATB1):c.1922A>C (p.Asn641Thr)	SATB1 (N569T +2 more)	Single nucleotide variant (missense variant)	SATB1-related disorder	GUncertain significance
Select item 2653611	NM_002971.6(SATB1):c.1801CAG[8] (p.Gln607_Ala608insGln)	SATB1	Microsatellite (inframe_insertion)	SATB1-related disorder +1 more	GLikely benign
Select item 3060259	NM_002971.6(SATB1):c.1801CAG[6] (p.Gln607del)	SATB1 (Q535del +2 more)	Microsatellite (inframe deletion)	SATB1-related disorder	GBenign
Select item 2636142	NM_002971.6(SATB1):c.1392C>G (p.Ile464Met)	SATB1 (I392M +1 more)	Single nucleotide variant (missense variant)	SATB1-related disorder	GUncertain significance
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 3056053	NM_002971.6(SATB1):c.1097C>T (p.Ser366Leu)	SATB1 (S294L +1 more)	Single nucleotide variant (missense variant)	SATB1-related disorder	GLikely benign
Select item 2632629	NM_002971.6(SATB1):c.1006C>T (p.Leu336Phe)	SATB1 (L264F +1 more)	Single nucleotide variant (missense variant)	SATB1-related disorder	GUncertain significance
Select item 2653616	NM_002971.6(SATB1):c.922G>A (p.Val308Ile)	SATB1 (V236I +1 more)	Single nucleotide variant (missense variant)	SATB1-related disorder +1 more	GUncertain significance
Select item 2633405	NM_002971.6(SATB1):c.669T>G (p.Thr223=)	SATB1	Single nucleotide variant (synonymous variant)	SATB1-related disorder	GUncertain significance
Select item 1695066	NM_002971.6(SATB1):c.300G>A (p.Leu100=)	SATB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign