ClinVar for Gene (Select 6304) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068240	NM_002971.6(SATB1):c.967A>G (p.Met323Val)	SATB1 (M251V +1 more)	Single nucleotide variant (missense variant)	Developmental delay with dysmorphic facies and dental anomalies	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 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 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3060259	NM_002971.6(SATB1):c.1801CAG[6] (p.Gln607del)	SATB1 (Q535del +2 more)	Microsatellite (inframe deletion)	SATB1-related condition	GBenign
Select item 3056053	NM_002971.6(SATB1):c.1097C>T (p.Ser366Leu)	SATB1 (S294L +1 more)	Single nucleotide variant (missense variant)	SATB1-related condition	GLikely benign
Select item 3031979	NM_002971.6(SATB1):c.1922A>C (p.Asn641Thr)	SATB1 (N569T +2 more)	Single nucleotide variant (missense variant)	SATB1-related condition	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 3024705	NM_002971.6(SATB1):c.1794ACAGCA[1] (p.Gln606_Gln607del)	SATB1	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2692458	NM_002971.6(SATB1):c.260T>A (p.Ile87Asn)	SATB1 (I87N +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2672934	NM_002971.6(SATB1):c.430T>C (p.Tyr144His)	SATB1 (Y144H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671965	NM_002971.6(SATB1):c.944A>G (p.Gln315Arg)	SATB1 (Q243R +1 more)	Single nucleotide variant (missense variant)	Kohlschutter-Tonz syndrome-like	GUncertain significance
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 2663466	NM_002971.6(SATB1):c.1779+655_1779+703del	SATB1	Deletion (intron variant +1 more)	not provided	GUncertain significance
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 2653622	NM_002971.6(SATB1):c.111G>A (p.Gly37=)	SATB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653621	NM_002971.6(SATB1):c.117G>T (p.Pro39=)	SATB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653620	NM_002971.6(SATB1):c.120A>G (p.Leu40=)	SATB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653619	NM_002971.6(SATB1):c.212-3T>C	SATB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2653618	NM_002971.6(SATB1):c.255C>T (p.Asn85=)	SATB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653617	NM_002971.6(SATB1):c.640-6A>G	SATB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653616	NM_002971.6(SATB1):c.922G>A (p.Val308Ile)	SATB1 (V236I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2653615	NM_002971.6(SATB1):c.1308G>A (p.Pro436=)	SATB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653614	NM_002971.6(SATB1):c.1335G>A (p.Gln445=)	SATB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2653611	NM_002971.6(SATB1):c.1801CAG[8] (p.Gln607_Ala608insGln)	SATB1	Microsatellite (inframe_insertion)	not provided +1 more	GLikely benign
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 2636142	NM_002971.6(SATB1):c.1392C>G (p.Ile464Met)	SATB1 (I392M +1 more)	Single nucleotide variant (missense variant)	SATB1-related condition	GUncertain significance
Select item 2633405	NM_002971.6(SATB1):c.669T>G (p.Thr223=)	SATB1	Single nucleotide variant (synonymous variant)	SATB1-related condition	GUncertain significance
Select item 2632629	NM_002971.6(SATB1):c.1006C>T (p.Leu336Phe)	SATB1 (L264F +1 more)	Single nucleotide variant (missense variant)	SATB1-related condition	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 condition	GUncertain significance
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 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 2579351	NM_002971.6(SATB1):c.911A>T (p.His304Leu)	SATB1 (H232L +1 more)	Single nucleotide variant (missense variant)	not provided	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 2577709	NM_002971.6(SATB1):c.-24-2A>G	SATB1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
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 2572252	NM_002971.6(SATB1):c.962del (p.Leu321fs)	SATB1 (L249fs +1 more)	Deletion (frameshift variant)	Developmental delay with dysmorphic facies and dental anomalies	GPathogenic
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 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 2505920	NM_002971.6(SATB1):c.95G>A (p.Arg32His)	SATB1 (R32H)	Single nucleotide variant (missense variant +1 more)	Developmental delay with dysmorphic facies and dental anomalies +1 more	GUncertain significance
Select item 2505266	NM_002971.6(SATB1):c.676G>T (p.Ala226Ser)	SATB1 (A154S +1 more)	Single nucleotide variant (missense variant)	not provided	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 2502031	NM_002971.6(SATB1):c.680del (p.Asn227fs)	SATB1 (N155fs +1 more)	Deletion (frameshift variant)	not provided	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 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 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 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 2442580	NM_002971.6(SATB1):c.679A>G (p.Asn227Asp)	SATB1 (N155D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442136	NM_002971.6(SATB1):c.431dup (p.Tyr144Ter)	SATB1 (Y144* +1 more)	Duplication (nonsense)	Developmental delay with dysmorphic facies and dental anomalies	GLikely pathogenic
Select item 2431895	NM_002971.6(SATB1):c.259A>G (p.Ile87Val)	SATB1 (I15V +1 more)	Single nucleotide variant (missense variant)	Developmental delay with dysmorphic facies and dental anomalies	GUncertain significance
Select item 2430441	NM_002971.6(SATB1):c.2224del (p.Ser742fs)	SATB1 (S670fs +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 2429489	NM_002971.6(SATB1):c.315G>A (p.Met105Ile)	SATB1 (M105I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429048	NM_002971.6(SATB1):c.923dup (p.Ser309fs)	SATB1 (S237fs +1 more)	Duplication (frameshift variant)	Kohlschutter-Tonz syndrome-like	GLikely pathogenic
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 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 2385393	NM_002971.6(SATB1):c.1801CAG[9] (p.Gln607_Ala608insGlnGln)	SATB1	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
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 2287873	NM_002971.6(SATB1):c.788G>T (p.Gly263Val)	SATB1 (G191V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2270636	NM_002971.6(SATB1):c.804_806delinsGGGA (p.Asn268fs)	SATB1 (N268fs +1 more)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
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 1902522	NM_002971.6(SATB1):c.2130del (p.Gly711fs)	SATB1 (G743fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1805953	NM_002971.6(SATB1):c.301G>A (p.Val101Met)	SATB1 (V101M +1 more)	Single nucleotide variant (missense variant)	Kohlschutter-Tonz syndrome-like	GUncertain significance
Select item 1804038	NM_002971.6(SATB1):c.542C>T (p.Pro181Leu)	SATB1 (P109L +1 more)	Single nucleotide variant (missense variant)	Developmental delay with dysmorphic facies and dental anomalies	GLikely pathogenic
Select item 1803371	NM_002971.6(SATB1):c.2218del (p.Leu740fs)	SATB1 (L668fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
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 1711929	NM_002971.6(SATB1):c.1205A>G (p.Gln402Arg)	SATB1 (Q330R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
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 1706288	NM_002971.6(SATB1):c.273C>G (p.Cys91Trp)	SATB1 (C19W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 1701860	NM_002971.6(SATB1):c.1782del (p.Gln594fs)	SATB1 (Q522fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1700168	NM_002971.6(SATB1):c.1876_1978del (p.Pro626fs)	SATB1 (P554fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1699824	NM_002971.6(SATB1):c.1055_1056del (p.Pro352fs)	SATB1 (P280fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1698158	NM_002971.6(SATB1):c.487G>A (p.Val163Met)	SATB1 (V163M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695647	NM_002971.6(SATB1):c.541C>G (p.Pro181Ala)	SATB1 (P109A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695066	NM_002971.6(SATB1):c.300G>A (p.Leu100=)	SATB1	Single nucleotide variant (synonymous variant)	SATB1-related condition +1 more	GBenign/Likely benign
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 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
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 1342323	NM_002971.6(SATB1):c.468G>C (p.Met156Ile)	SATB1 (M156I +1 more)	Single nucleotide variant (missense variant)	SATB1-related neurodevelopmental disorder	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 1335825	NM_002971.6(SATB1):c.1877del (p.Pro626fs)	SATB1 (P554fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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
Select item 1326529	NM_002971.6(SATB1):c.1206+1G>T	SATB1	Single nucleotide variant (splice donor 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 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 1318846	NM_002971.6(SATB1):c.1576G>A (p.Gly526Arg)	SATB1 (G454R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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