SATB2[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 642

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59161	GRCh38/hg38 2q33.1(chr2:199278605-199372542)x3	SATB2	Copy number gain	See cases	GPathogenic
Select item 1287627	NM_001172509.2(SATB2):c.1740+197G>A	SATB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238001	NM_001172509.2(SATB2):c.1740+171A>G	SATB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223442	NM_001172509.2(SATB2):c.1740+126A>C	SATB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533054	NM_001172509.2(SATB2):c.1740+20_1740+29del	SATB2	Deletion (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1528889	NM_001172509.2(SATB2):c.1740+20G>A	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 469539	NC_000002.11:g.(?_200173463)_(200320780_?)dup	SATB2	Duplication	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1639396	NM_001172509.2(SATB2):c.1740+19C>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2901946	NM_001172509.2(SATB2):c.1740+17G>A	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2827600	NM_001172509.2(SATB2):c.1740+16C>A	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1576777	NM_001172509.2(SATB2):c.1740+16C>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2086213	NM_001172509.2(SATB2):c.1740+13G>A	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1546772	NM_001172509.2(SATB2):c.1740+12C>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2013495	NM_001172509.2(SATB2):c.1740+11C>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1664428	NM_001172509.2(SATB2):c.1740+9C>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1142573	NM_001172509.2(SATB2):c.1740+8T>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2701837	NM_001172509.2(SATB2):c.1735G>T (p.Val579Leu)	SATB2 (V579L)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
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 2007993	NM_001172509.2(SATB2):c.1731G>A (p.Glu577=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely 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 1645918	NM_001172509.2(SATB2):c.1728T>C (p.Pro576=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 986080	NM_001172509.2(SATB2):c.1728del (p.Glu577fs)	SATB2 (E577fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 978888	NM_001172509.2(SATB2):c.1727del (p.Pro576fs)	SATB2 (P576fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 2873262	NM_001172509.2(SATB2):c.1726C>A (p.Pro576Thr)	SATB2 (P576T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2848931	NM_001172509.2(SATB2):c.1726C>G (p.Pro576Ala)	SATB2 (P576A)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 838035	NM_001172509.2(SATB2):c.1711G>A (p.Val571Met)	SATB2 (V571M)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 1087816	NM_001172509.2(SATB2):c.1710C>T (p.His570=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1323551	NM_001172509.2(SATB2):c.1705dup (p.Gln569fs)	SATB2 (Q569fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2630791	NM_001172509.2(SATB2):c.1705C>G (p.Gln569Glu)	SATB2 (Q569E)	Single nucleotide variant (missense variant)	SATB2-related disorder	GUncertain significance
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 2120867	NM_001172509.2(SATB2):c.1702A>T (p.Met568Leu)	SATB2 (M568L)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1509816	NM_001172509.2(SATB2):c.1701C>T (p.Arg567=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 422062	NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys)	SATB2 (E566K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1077949	NM_001172509.2(SATB2):c.1695C>T (p.Ser565=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2841437	NM_001172509.2(SATB2):c.1681A>G (p.Arg561Gly)	SATB2 (R561G)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 834509	NM_001172509.2(SATB2):c.1671G>C (p.Glu557Asp)	SATB2 (E557D)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2840256	NM_001172509.2(SATB2):c.1662C>T (p.Val554=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 581209	NM_001172509.2(SATB2):c.1660G>A (p.Val554Ile)	SATB2 (V554I)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2130099	NM_001172509.2(SATB2):c.1658A>G (p.Asp553Gly)	SATB2 (D553G)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1129447	NM_001172509.2(SATB2):c.1656G>A (p.Arg552=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 523423	NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)	SATB2 (R552fs)	Microsatellite (frameshift variant)	Global developmental delay +6 more	GPathogenic
Select item 3011206	NM_001172509.2(SATB2):c.1642C>T (p.Pro548Ser)	SATB2 (P548S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3008494	NM_001172509.2(SATB2):c.1639C>T (p.Leu547Phe)	SATB2 (L547F)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance
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 1809702	NM_001172509.2(SATB2):c.1634T>C (p.Leu545Pro)	SATB2 (L545P)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1805185	NM_001172509.2(SATB2):c.1628G>A (p.Arg543His)	SATB2 (R543H)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1008181	NM_001172509.2(SATB2):c.1627C>T (p.Arg543Cys)	SATB2 (R543C)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 431132	NM_001172509.2(SATB2):c.1627del (p.Arg543fs)	SATB2 (R543fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1809709	NM_001172509.2(SATB2):c.1624dup (p.Arg542fs)	SATB2 (R542fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1381732	NM_001172509.2(SATB2):c.1625G>A (p.Arg542His)	SATB2 (R542H)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1626328	NM_001172509.2(SATB2):c.1624C>T (p.Arg542Cys)	SATB2 (R542C)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 978891	NM_001172509.2(SATB2):c.1610_1611del (p.Asn537fs)	SATB2 (N537fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 691258	NM_001172509.2(SATB2):c.1610del (p.Asn537fs)	SATB2 (N537fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2507242	NM_001172509.2(SATB2):c.1609A>G (p.Asn537Asp)	SATB2 (N537D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1776300	NM_001172509.2(SATB2):c.1606G>T (p.Glu536Ter)	SATB2 (E536*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1147074	NM_001172509.2(SATB2):c.1600C>T (p.Leu534Phe)	SATB2 (L534F)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1044366	NM_001172509.2(SATB2):c.1595G>A (p.Arg532His)	SATB2 (R532H)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1174112	NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys)	SATB2 (R532C)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance
Select item 870946	NM_001172509.2(SATB2):c.1593C>A (p.Asn531Lys)	SATB2 (N531K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 469544	NM_001172509.2(SATB2):c.1592dup (p.Asn531fs)	SATB2 (N531fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1722999	NM_001172509.2(SATB2):c.1590A>C (p.Glu530Asp)	SATB2 (E530D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1119292	NM_001172509.2(SATB2):c.1577A>T (p.Asn526Ile)	SATB2 (N526I)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2577951	NM_001172509.2(SATB2):c.1573G>A (p.Glu525Lys)	SATB2 (E525K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 772578	NM_001172509.2(SATB2):c.1572G>A (p.Lys524=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GLikely benign
Select item 2101013	NM_001172509.2(SATB2):c.1569G>A (p.Trp523Ter)	SATB2 (W523*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome +1 more	GPathogenic/Likely pathogenic
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 1208890	NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys)	SATB2 (R522C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3010211	NM_001172509.2(SATB2):c.1558C>T (p.Leu520=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2692304	NM_001172509.2(SATB2):c.1558C>G (p.Leu520Val)	SATB2 (L520V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2505259	NM_001172509.2(SATB2):c.1555G>A (p.Glu519Lys)	SATB2 (E519K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1129853	NM_001172509.2(SATB2):c.1551G>T (p.Leu517=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GLikely benign
Select item 1126904	NM_001172509.2(SATB2):c.1551G>A (p.Leu517=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1338898	NM_001172509.2(SATB2):c.1544G>A (p.Gly515Asp)	SATB2 (G515D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 545530	NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser)	SATB2 (G515S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 587756	NM_001172509.2(SATB2):c.1543-4A>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome +2 more	GBenign
Select item 1489636	NM_001172509.2(SATB2):c.1543-6C>G	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2637597	NM_001172509.2(SATB2):c.1543-8C>G	SATB2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1570369	NM_001172509.2(SATB2):c.1543-10C>G	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2084561	NM_001172509.2(SATB2):c.1543-18G>A	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2168991	NM_001172509.2(SATB2):c.1543-19C>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1669917	NM_001172509.2(SATB2):c.1543-20G>A	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1175463	NM_001172509.2(SATB2):c.1543-119G>A	SATB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190448	NM_001172509.2(SATB2):c.1543-218A>C	SATB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59162	GRCh38/hg38 2q33.1(chr2:199309935-199403802)x3	SATB2	Copy number gain	See cases	GPathogenic
Select item 1288552	NM_001172509.2(SATB2):c.1542+294_1542+295insTATGTGTG	SATB2	Microsatellite (intron variant)	not provided	GBenign
Select item 1286654	NM_001172509.2(SATB2):c.1542+295G>A	SATB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267281	NM_001172509.2(SATB2):c.1542+294_1542+295insTATGTG	SATB2	Microsatellite (intron variant)	not provided	GBenign
Select item 1242828	NM_001172509.2(SATB2):c.1542+294_1542+295insTATG	SATB2	Insertion (intron variant)	not provided	GBenign
Select item 1229123	NM_001172509.2(SATB2):c.1542+294_1542+295insTATATGTGTGTG	SATB2	Microsatellite (intron variant)	not provided	GBenign
Select item 1220464	NM_001172509.2(SATB2):c.1542+294_1542+295insTATATGTGTGTGTG	SATB2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1572108	NM_001172509.2(SATB2):c.1542+18A>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1615059	NM_001172509.2(SATB2):c.1542+13T>A	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 469543	NM_001172509.2(SATB2):c.1542+9T>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3344466	NM_001172509.2(SATB2):c.1542+2T>G	SATB2	Single nucleotide variant (splice donor variant)	SATB2-related disorder	GLikely pathogenic
Select item 978889	NM_001172509.2(SATB2):c.1538G>A (p.Ser513Asn)	SATB2 (S513N)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 761793	NM_001172509.2(SATB2):c.1530A>G (p.Ala510=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 758524	NM_001172509.2(SATB2):c.1524G>C (p.Val508=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1774412	NM_001172509.2(SATB2):c.1520A>C (p.Lys507Thr)	SATB2 (K507T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 7