ClinVar for Gene (Select 6304) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381640	NM_002971.6(SATB1):c.115C>T (p.Pro39Ser)	SATB1 (P39S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3376339	NM_002971.6(SATB1):c.904A>G (p.Asn302Asp)	SATB1 (N230D +1 more)	Single nucleotide variant (missense variant)	Developmental delay with dysmorphic facies and dental anomalies	GUncertain significance
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 3373273	NM_002971.6(SATB1):c.344_348delinsAGCAATGTCAATTGCTATGTCAATGGCATAGCAATGACAGCA (p.Leu115_Leu116delinsTer)	SATB1	Indel (nonsense)	not provided	GUncertain significance
Select item 3372348	NM_002971.6(SATB1):c.1585T>A (p.Cys529Ser)	SATB1 (C457S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369042	NM_002971.6(SATB1):c.1135G>A (p.Val379Ile)	SATB1 (V307I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368665	NM_002971.6(SATB1):c.515+2T>C	SATB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3368271	NM_002971.6(SATB1):c.552G>T (p.Trp184Cys)	SATB1 (W112C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364526	NM_002971.6(SATB1):c.137G>A (p.Gly46Glu)	SATB1 (G46E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3363883	NM_002971.6(SATB1):c.625T>C (p.Cys209Arg)	SATB1 (C137R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363322	NM_002971.6(SATB1):c.507G>T (p.Gln169His)	SATB1 (Q169H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361716	NM_002971.6(SATB1):c.1724A>C (p.His575Pro)	SATB1 (H503P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3351692	NM_002971.6(SATB1):c.68C>T (p.Pro23Leu)	SATB1 (P23L)	Single nucleotide variant (missense variant +1 more)	SATB1-related disorder	GLikely benign
Select item 3345864	NM_002971.6(SATB1):c.1206+3C>T	SATB1	Single nucleotide variant (intron variant)	SATB1-related disorder	GLikely benign
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 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 3341406	NM_002971.6(SATB1):c.54C>A (p.Asn18Lys)	SATB1 (N18K)	Single nucleotide variant (missense variant +1 more)	Developmental delay with dysmorphic facies and dental anomalies	GUncertain significance
Select item 3341301	NM_002971.6(SATB1):c.67C>G (p.Pro23Ala)	SATB1 (P23A)	Single nucleotide variant (missense variant +1 more)	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 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 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 3316201	NM_002971.6(SATB1):c.1237dup (p.Glu413fs)	SATB1 (E341fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
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 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 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 3251262	NM_002971.6(SATB1):c.1779+578C>T	SATB1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
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 3157929	NM_002971.6(SATB1):c.803A>C (p.Asn268Thr)	SATB1 (N196T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157928	NM_002971.6(SATB1):c.794A>G (p.Asn265Ser)	SATB1 (N193S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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	SATB1-related disorder	GBenign
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 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 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	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	GBenign
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	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 disorder	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 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 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 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

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