"Ambry Genetics"[submitter] AND "SATB2"[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1673223	NM_001172509.2(SATB2):c.2177C>T (p.Ala726Val)	LOC126806462, SATB2 (A726V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 469553	NM_001172509.2(SATB2):c.2176G>A (p.Ala726Thr)	LOC126806462, SATB2 (A726T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 938268	NM_001172509.2(SATB2):c.2174C>T (p.Ala725Val)	LOC126806462, SATB2 (A725V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance
Select item 589091	NM_001172509.2(SATB2):c.2172G>C (p.Lys724Asn)	LOC126806462, SATB2 (K724N)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GBenign/Likely benign
Select item 2298927	NM_001172509.2(SATB2):c.2161G>A (p.Asp721Asn)	LOC126806462, SATB2 (D721N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1035050	NM_001172509.2(SATB2):c.2158G>A (p.Ala720Thr)	LOC126806462, SATB2 (A720T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance
Select item 1786763	NM_001172509.2(SATB2):c.2151G>A (p.Glu717=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 469552	NM_001172509.2(SATB2):c.2121C>T (p.Ser707=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 578465	NM_001172509.2(SATB2):c.2109C>T (p.Ser703=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 469550	NM_001172509.2(SATB2):c.2103C>T (p.Asn701=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 469549	NM_001172509.2(SATB2):c.2088C>T (p.Thr696=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 546548	NM_001172509.2(SATB2):c.1946C>T (p.Ser649Leu)	LOC126806462, SATB2 (S649L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 702795	NM_001172509.2(SATB2):c.1935C>T (p.Ile645=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	SATB2-related condition +3 more	GLikely benign
Select item 3157932	NM_001172509.2(SATB2):c.1901A>G (p.His634Arg)	LOC126806462, SATB2 (H634R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 469546	NM_001172509.2(SATB2):c.1851T>C (p.Ser617=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 588573	NM_001172509.2(SATB2):c.1842G>A (p.Lys614=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1780822	NM_001172509.2(SATB2):c.1825_1826dup (p.Asp609fs)	LOC126806462, SATB2 (D609fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 469545	NM_001172509.2(SATB2):c.1818G>T (p.Pro606=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 930870	NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)	LOC126806462, SATB2 (P603fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3157931	NM_001172509.2(SATB2):c.1795G>T (p.Glu599Ter)	LOC126806462, SATB2 (E599*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1165541	NM_001172509.2(SATB2):c.1776G>A (p.Glu592=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2466835	NM_001172509.2(SATB2):c.1768G>A (p.Ala590Thr)	LOC126806462, SATB2 (A590T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1089810	NM_001172509.2(SATB2):c.1761T>C (p.Ser587=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GLikely benign
Select item 1586541	NM_001172509.2(SATB2):c.1734G>A (p.Pro578=)	SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2097617	NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)	SATB2 (P578T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GBenign/Likely benign
Select item 521878	NM_001172509.2(SATB2):c.1730_1731del (p.Glu577fs)	SATB2 (E577fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 986080	NM_001172509.2(SATB2):c.1728del (p.Glu577fs)	SATB2 (E577fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 589354	NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)	SATB2 (M568I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 581209	NM_001172509.2(SATB2):c.1660G>A (p.Val554Ile)	SATB2 (V554I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1776922	NM_001172509.2(SATB2):c.1635G>T (p.Leu545=)	SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1776300	NM_001172509.2(SATB2):c.1606G>T (p.Glu536Ter)	SATB2 (E536*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 588708	NM_001172509.2(SATB2):c.1582A>G (p.Ser528Gly)	SATB2 (S528G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775357	NM_001172509.2(SATB2):c.1565G>T (p.Arg522Leu)	SATB2 (R522L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 587756	NM_001172509.2(SATB2):c.1543-4A>C	SATB2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign
Select item 1774412	NM_001172509.2(SATB2):c.1520A>C (p.Lys507Thr)	SATB2 (K507T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986170	NM_001172509.2(SATB2):c.1477C>T (p.Gln493Ter)	SATB2 (Q493*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 537284	NM_001172509.2(SATB2):c.1434C>T (p.Gly478=)	SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 964503	NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser)	SATB2 (G478S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 838898	NM_001172509.2(SATB2):c.1420A>G (p.Ile474Val)	SATB2 (I474V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 522269	NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)	SATB2 (R459*)	Single nucleotide variant (nonsense)	Isolated cleft palate +4 more	GPathogenic
Select item 587771	NM_001172509.2(SATB2):c.1311_1314dup (p.Arg439fs)	SATB2 (R439fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 469542	NM_001172509.2(SATB2):c.1257G>A (p.Gln419=)	SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 521523	NM_001172509.2(SATB2):c.1253T>G (p.Met418Arg)	SATB2 (M418R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1002627	NM_001172509.2(SATB2):c.1247G>A (p.Arg416Lys)	SATB2 (R416K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3157930	NM_001172509.2(SATB2):c.1205_1219del (p.Glu402_Thr406del)	SATB2	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 588166	NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro)	SATB2 (R399P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 521185	NM_001172509.2(SATB2):c.1196del (p.Arg399fs)	SATB2 (R399fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 986051	NM_001172509.2(SATB2):c.1174-1G>A	SATB2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 571732	NM_001172509.2(SATB2):c.1173+4C>A	SATB2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1723662	NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)	SATB2 (R389H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 381575	NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)	SATB2 (R389C)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +3 more	GPathogenic/Likely pathogenic
Select item 537279	NM_001172509.2(SATB2):c.1071C>T (p.Ser357=)	SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2608058	NM_001172509.2(SATB2):c.881G>A (p.Ser294Asn)	SATB2 (S294N)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 373586	NM_001172509.2(SATB2):c.868C>T (p.Gln290Ter)	SATB2 (Q290*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 589397	NM_001172509.2(SATB2):c.862G>T (p.Ala288Ser)	SATB2 (A288S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 537273	NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr)	SATB2 (A288T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +2 more	GBenign/Likely benign
Select item 208673	NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)	SATB2 (R283*)	Single nucleotide variant (nonsense)	SATB2 associated disorder +4 more	GPathogenic
Select item 1341602	NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala)	SATB2 (P281A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 521394	NM_001172509.2(SATB2):c.808_809del (p.Gln270fs)	SATB2 (Q270fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1205443	NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro)	SATB2 (S263P)	Single nucleotide variant (missense variant)	SATB2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 944821	NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys)	SATB2 (N257K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 469563	NM_001172509.2(SATB2):c.756A>G (p.Pro252=)	SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 537270	NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu)	SATB2 (D244E)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 589489	NM_001172509.2(SATB2):c.598-4del	SATB2	Deletion (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 756669	NM_001172509.2(SATB2):c.420C>T (p.Ala140=)	SATB2	Single nucleotide variant (synonymous variant)	SATB2-related condition +2 more	GLikely benign
Select item 469559	NM_001172509.2(SATB2):c.408C>T (p.Asp136=)	SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 469558	NM_001172509.2(SATB2):c.405C>T (p.Pro135=)	SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 573402	NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter)	SATB2 (Q115*)	Single nucleotide variant (nonsense +1 more)	Chromosome 2q32-q33 deletion syndrome +1 more	GPathogenic
Select item 537277	NM_001172509.2(SATB2):c.306G>A (p.Leu102=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	Chromosome 2q32-q33 deletion syndrome +2 more	GBenign/Likely benign
Select item 3157933	NM_001172509.2(SATB2):c.302T>C (p.Leu101Pro)	SATB2 (L101P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2192229	NM_001172509.2(SATB2):c.266A>G (p.Lys89Arg)	SATB2 (K89R)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1793073	NM_001172509.2(SATB2):c.255C>T (p.Val85=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2400506	NM_001172509.2(SATB2):c.244G>T (p.Ala82Ser)	SATB2 (A82S)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome +2 more	GUncertain significance
Select item 469551	NM_001172509.2(SATB2):c.210C>T (p.Asp70=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 469547	NM_001172509.2(SATB2):c.195C>T (p.Val65=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 2247391	NM_001172509.2(SATB2):c.163G>A (p.Val55Met)	SATB2 (V55M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 967319	NM_001172509.2(SATB2):c.163G>C (p.Val55Leu)	SATB2 (V55L)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome +2 more	GLikely benign
Select item 2556510	NM_001172509.2(SATB2):c.157A>G (p.Lys53Glu)	SATB2 (K53E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1164336	NM_001172509.2(SATB2):c.151G>A (p.Val51Met)	SATB2 (V51M)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome +1 more	GBenign/Likely benign
Select item 588693	NM_001172509.2(SATB2):c.150C>T (p.Ala50=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3157934	NM_001172509.2(SATB2):c.97C>T (p.Arg33Trp)	SATB2 (R33W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589615	NM_001172509.2(SATB2):c.42C>G (p.Pro14=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign

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Items: 82