SATB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 150855	GRCh38/hg38 3p24.3(chr3:17573510-18695830)x1	BALR6, LOC105376975 +17 more	Copy number loss	See cases	GUncertain significance
Select item 57700	GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3	BALR6, EFHB +39 more	Copy number gain	See cases	GUncertain significance
Select item 1298907	NM_002971.6(SATB1):c.2268C>T (p.Asp756=)	SATB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3157927	NM_002971.6(SATB1):c.2252T>C (p.Val751Ala)	SATB1 (V679A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2430441	NM_002971.6(SATB1):c.2224del (p.Ser742fs)	SATB1 (S670fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2689909	NM_002971.6(SATB1):c.2218C>A (p.Leu740Ile)	SATB1 (L668I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803371	NM_002971.6(SATB1):c.2218del (p.Leu740fs)	SATB1 (L668fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1316767	NM_002971.6(SATB1):c.2207del (p.Asn736fs)	SATB1 (N664fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2429855	NM_002971.6(SATB1):c.2194G>T (p.Val732Phe)	SATB1 (V660F +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2330019	NM_002971.6(SATB1):c.2156A>T (p.Tyr719Phe)	SATB1 (Y751F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065175	NM_002971.6(SATB1):c.2150C>T (p.Ala717Val)	SATB1 (A645V +2 more)	Single nucleotide variant (missense variant)	Developmental delay with dysmorphic facies and dental anomalies	GUncertain significance
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 1902522	NM_002971.6(SATB1):c.2130del (p.Gly711fs)	SATB1 (G743fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2285263	NM_002971.6(SATB1):c.2123A>T (p.Asp708Val)	SATB1 (D708V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064849	NM_002971.6(SATB1):c.2110G>A (p.Gly704Ser)	SATB1 (G632S +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1043592	NM_002971.6(SATB1):c.2080C>T (p.Gln694Ter)	SATB1 (Q694* +2 more)	Single nucleotide variant (nonsense)	Developmental delay with dysmorphic facies and dental anomalies	GPathogenic
Select item 2429028	NM_002971.6(SATB1):c.2009C>G (p.Pro670Arg)	SATB1 (P598R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711567	NM_002971.6(SATB1):c.1996G>A (p.Val666Met)	SATB1 (V594M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700168	NM_002971.6(SATB1):c.1876_1978del (p.Pro626fs)	SATB1 (P554fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1800945	NM_002971.6(SATB1):c.1946C>T (p.Thr649Ile)	SATB1 (T577I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800499	NM_002971.6(SATB1):c.1942C>T (p.Arg648Ter)	SATB1 (R576* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3316203	NM_002971.6(SATB1):c.1937G>A (p.Arg646Gln)	SATB1 (R678Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3316202	NM_002971.6(SATB1):c.1928A>G (p.Gln643Arg)	SATB1 (Q675R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1439873	NM_002971.6(SATB1):c.1924C>T (p.Arg642Ter)	SATB1 (R570* +2 more)	Single nucleotide variant (nonsense)	Developmental delay with dysmorphic facies and dental anomalies +1 more	GPathogenic
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 2171492	NM_002971.6(SATB1):c.1913A>G (p.Asp638Gly)	SATB1 (D638G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2400234	NM_002971.6(SATB1):c.1903G>T (p.Ala635Ser)	SATB1 (A667S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3357177	NM_002971.6(SATB1):c.1877C>A (p.Pro626Gln)	SATB1 (P554Q +2 more)	Single nucleotide variant (missense variant)	SATB1-related disorder	GLikely benign
Select item 2489743	NM_002971.6(SATB1):c.1877C>G (p.Pro626Arg)	SATB1 (P554R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335825	NM_002971.6(SATB1):c.1877del (p.Pro626fs)	SATB1 (P554fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1319279	NM_002971.6(SATB1):c.1876C>T (p.Pro626Ser)	SATB1 (P554S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653610	NM_002971.6(SATB1):c.1835_1837del (p.Pro612del)	SATB1 (P540del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2616752	NM_002971.6(SATB1):c.1829C>T (p.Pro610Leu)	SATB1 (P610L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615705	NM_002971.6(SATB1):c.1826C>A (p.Pro609Gln)	SATB1 (P609Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3235071	NM_002971.6(SATB1):c.1801CAG[14] (p.Gln607_Ala608insGlnGlnGlnGlnGlnGlnGln)	SATB1	Microsatellite (inframe_insertion)	Kohlschutter-Tonz syndrome-like +1 more	GUncertain significance
Select item 2653611	NM_002971.6(SATB1):c.1801CAG[8] (p.Gln607_Ala608insGln)	SATB1	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2385393	NM_002971.6(SATB1):c.1801CAG[9] (p.Gln607_Ala608insGlnGln)	SATB1	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 3060259	NM_002971.6(SATB1):c.1801CAG[6] (p.Gln607del)	SATB1 (Q535del +2 more)	Microsatellite	SATB1-related disorder	GBenign
Select item 3024705	NM_002971.6(SATB1):c.1794ACAGCA[1] (p.Gln606_Gln607del)	SATB1	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1701860	NM_002971.6(SATB1):c.1782del (p.Gln594fs)	SATB1 (Q522fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2663466	NM_002971.6(SATB1):c.1779+655_1779+703del	SATB1	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 2653613	NM_002971.6(SATB1):c.1779+680_1779+681delinsAA	SATB1	Indel (intron variant +1 more)	not provided	GUncertain significance
Select item 2653612	NM_002971.6(SATB1):c.1779+681T>A	SATB1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1341521	NM_002971.6(SATB1):c.1779+680G>A	SATB1	Single nucleotide variant (intron variant +1 more)	Kohlschutter-Tonz syndrome-like +1 more	GConflicting classifications of pathogenicity
Select item 1304745	NM_002971.6(SATB1):c.1779+665G>A	SATB1 (G621S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3343798	NM_002971.6(SATB1):c.1779+638G>C	SATB1 (G612R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251262	NM_002971.6(SATB1):c.1779+578C>T	SATB1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2503404	NM_002971.6(SATB1):c.1745C>A (p.Pro582His)	SATB1 (P510H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706405	NM_002971.6(SATB1):c.1720G>C (p.Val574Leu)	SATB1 (V502L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2524596	NM_002971.6(SATB1):c.1718C>T (p.Ala573Val)	SATB1 (A573V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255189	NM_002971.6(SATB1):c.1657C>T (p.Arg553Ter)	SATB1 (R481* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3255504	NM_002971.6(SATB1):c.1630A>G (p.Thr544Ala)	SATB1 (T472A +1 more)	Single nucleotide variant (missense variant)	Developmental delay with dysmorphic facies and dental anomalies +1 more	GUncertain significance
Select item 1043590	NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys)	SATB1 (E530K +1 more)	Single nucleotide variant (missense variant)	Kohlschutter-Tonz syndrome-like +1 more	GPathogenic/Likely pathogenic
Select item 1318846	NM_002971.6(SATB1):c.1576G>A (p.Gly526Arg)	SATB1 (G454R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 147343	GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1	EFHB, KAT2B +53 more	Copy number loss	See cases	GUncertain significance
Select item 1043595	NM_002971.6(SATB1):c.1574A>G (p.Gln525Arg)	SATB1 (Q525R +1 more)	Single nucleotide variant (missense variant)	Kohlschutter-Tonz syndrome-like	GLikely pathogenic
Select item 2624230	NM_002971.6(SATB1):c.1523G>A (p.Arg508His)	SATB1 (R436H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690693	NM_002971.6(SATB1):c.1522C>T (p.Arg508Cys)	SATB1 (R436C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3363947	NM_002971.6(SATB1):c.1480A>G (p.Ile494Val)	SATB1 (I422V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1230415	NM_002971.6(SATB1):c.1386C>A (p.Pro462=)	SATB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2444648	NM_002971.6(SATB1):c.1374G>A (p.Met458Ile)	SATB1 (M386I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063581	NM_002971.6(SATB1):c.1366_1371dup (p.Ala457_Met458insSerAla)	SATB1	Duplication (inframe_insertion)	Developmental delay with dysmorphic facies and dental anomalies	GUncertain significance
Select item 3338613	NM_002971.6(SATB1):c.1353C>A (p.Ser451Arg)	SATB1 (S379R +1 more)	Single nucleotide variant (missense variant)	SATB1-related disorder	GLikely pathogenic
Select item 2653614	NM_002971.6(SATB1):c.1335G>A (p.Gln445=)	SATB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2653615	NM_002971.6(SATB1):c.1308G>A (p.Pro436=)	SATB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708508	NM_002971.6(SATB1):c.1280G>A (p.Arg427Gln)	SATB1 (R355Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 985375	NM_002971.6(SATB1):c.1259A>G (p.Gln420Arg)	SATB1 (Q348R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2574990	NM_002971.6(SATB1):c.1247A>C (p.Lys416Thr)	SATB1 (K344T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252991	NM_002971.6(SATB1):c.1246A>G (p.Lys416Glu)	SATB1 (K344E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316201	NM_002971.6(SATB1):c.1237dup (p.Glu413fs)	SATB1 (E341fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3157926	NM_002971.6(SATB1):c.1229G>A (p.Arg410Gln)	SATB1 (R338Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1043589	NM_002971.6(SATB1):c.1228C>T (p.Arg410Ter)	SATB1 (R410* +1 more)	Single nucleotide variant (nonsense)	Developmental delay with dysmorphic facies and dental anomalies	GPathogenic
Select item 1043593	NM_002971.6(SATB1):c.1220A>G (p.Glu407Gly)	SATB1 (E407G +1 more)	Single nucleotide variant (missense variant)	Kohlschutter-Tonz syndrome-like	GPathogenic
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 3345864	NM_002971.6(SATB1):c.1206+3C>T	SATB1	Single nucleotide variant (intron variant)	SATB1-related disorder	GLikely benign
Select item 1326529	NM_002971.6(SATB1):c.1206+1G>T	SATB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1711929	NM_002971.6(SATB1):c.1205A>G (p.Gln402Arg)	SATB1 (Q330R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3342922	NM_002971.6(SATB1):c.1195A>G (p.Asn399Asp)	SATB1 (N327D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025122	NM_002971.6(SATB1):c.1173G>A (p.Ala391=)	SATB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664030	NM_002971.6(SATB1):c.1152dup (p.Arg385fs)	SATB1 (R313fs +1 more)	Duplication (frameshift variant)	Developmental delay with dysmorphic facies and dental anomalies	GPathogenic
Select item 2663113	NM_002971.6(SATB1):c.1141G>A (p.Asp381Asn)	SATB1 (D309N +1 more)	Single nucleotide variant (missense variant)	not provided	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 2476728	NM_002971.6(SATB1):c.1074T>G (p.Asn358Lys)	SATB1 (N286K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536033	NM_002971.6(SATB1):c.1066T>C (p.Ser356Pro)	SATB1 (S284P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699824	NM_002971.6(SATB1):c.1055_1056del (p.Pro352fs)	SATB1 (P280fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 689721	NM_002971.6(SATB1):c.1004_1005del (p.Arg335fs)	SATB1 (R263fs +1 more)	Deletion (frameshift variant)	Developmental delay with dysmorphic facies and dental anomalies	GPathogenic

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