Related gene-specific medical variations for Gene (Select 23314) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255052	NM_001172509.2(SATB2):c.1994A>G (p.Asn665Ser)	LOC126806462, SATB2 (N665S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 3247348	NC_000002.11:g.(?_200188506)_(200193653_?)dup	SATB2	Duplication	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3247346	NC_000002.11:g.(?_200136934)_(200320760_?)del	SATB2	Deletion	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 3236861	NM_001172509.2(SATB2):c.1743dup (p.Leu582fs)	LOC126806462, SATB2 (L582fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
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 3157931	NM_001172509.2(SATB2):c.1795G>T (p.Glu599Ter)	LOC126806462, SATB2 (E599*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3067608	NM_001172509.2(SATB2):c.1787C>G (p.Pro596Arg)	LOC126806462, SATB2 (P596R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065811	NM_001172509.2(SATB2):c.353T>C (p.Ile118Thr)	SATB2 (I118T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3065059	NM_001172517.1(SATB2):c.-140-2A>G	SATB2	Single nucleotide variant (splice acceptor variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 3063580	NM_001172509.2(SATB2):c.1022_1029del (p.Asn341fs)	SATB2 (N341fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 3062110	NM_001172509.2(SATB2):c.1976TCA[1] (p.Ile660del)	LOC126806462, SATB2 (I660del)	Microsatellite (inframe_deletion)	SATB2 associated disorder	GPathogenic
Select item 3061240	NM_001172509.2(SATB2):c.1842del (p.Lys614fs)	LOC126806462, SATB2 (K614fs)	Deletion (frameshift variant)	SATB2-related disorder	GPathogenic
Select item 3007629	NM_001172509.2(SATB2):c.2020G>A (p.Gly674Arg)	LOC126806462, SATB2 (G674R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2957332	NM_001172509.2(SATB2):c.1779T>C (p.Ser593=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2917860	NM_001172509.2(SATB2):c.2026C>A (p.Leu676Met)	LOC126806462, SATB2 (L676M)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2876811	NM_001172509.2(SATB2):c.2104G>A (p.Asp702Asn)	LOC126806462, SATB2 (D702N)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2874167	NM_001172509.2(SATB2):c.2031A>C (p.Lys677Asn)	LOC126806462, SATB2 (K677N)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2858653	NM_001172509.2(SATB2):c.1940C>A (p.Thr647Asn)	LOC126806462, SATB2 (T647N)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2858394	NM_001172509.2(SATB2):c.1881G>A (p.Gly627=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2846444	NM_001172509.2(SATB2):c.1843C>A (p.Pro615Thr)	LOC126806462, SATB2 (P615T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2829622	NM_001172509.2(SATB2):c.1865C>T (p.Ser622Phe)	LOC126806462, SATB2 (S622F)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2823343	NM_001172509.2(SATB2):c.1808C>T (p.Pro603Leu)	LOC126806462, SATB2 (P603L)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2822522	NM_001172509.2(SATB2):c.2167del (p.Ser723fs)	LOC126806462, SATB2 (S723fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2801296	NM_001172509.2(SATB2):c.1741-11T>G	LOC126806462, SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2789501	NM_001172509.2(SATB2):c.2010G>A (p.Val670=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	SATB2-related disorder +1 more	GLikely benign
Select item 2763011	NM_001172509.2(SATB2):c.2089G>A (p.Glu697Lys)	LOC126806462, SATB2 (E697K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2754514	NM_001172509.2(SATB2):c.1962C>T (p.Leu654=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2748605	NM_001172509.2(SATB2):c.1806C>G (p.Pro602=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2737199	NM_001172509.2(SATB2):c.2184C>A (p.Ala728=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2735206	NM_001172509.2(SATB2):c.2105A>G (p.Asp702Gly)	LOC126806462, SATB2 (D702G)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2707967	NM_001172509.2(SATB2):c.1795G>A (p.Glu599Lys)	LOC126806462, SATB2 (E599K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2706022	NM_001172509.2(SATB2):c.2015A>G (p.His672Arg)	LOC126806462, SATB2 (H672R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2690694	NM_001172509.2(SATB2):c.1741-2A>C	LOC126806462, SATB2	Single nucleotide variant (splice acceptor variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 2671963	NM_001172509.2(SATB2):c.913C>T (p.Gln305Ter)	SATB2 (Q305*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2671617	Single allele	SATB2	Duplication	not provided	GUncertain significance
Select item 2663379	NM_001172509.2(SATB2):c.2045C>A (p.Ser682Tyr)	LOC126806462, SATB2 (S682Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637962	NM_001172509.2(SATB2):c.346+3A>T	SATB2	Single nucleotide variant (intron variant)	SATB2-associated syndrome	GUncertain significance
Select item 2627304	NM_001172509.2(SATB2):c.2129T>A (p.Met710Lys)	LOC126806462, SATB2 (M710K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582477	NM_001172509.2(SATB2):c.115dup (p.Ser39fs)	SATB2 (S39fs)	Duplication (frameshift variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2578385	GRCh37/hg19 2q33.1(chr2:200188260-200214121)x1	SATB2	Copy number loss	SATB2 associated disorder	Gnot provided
Select item 2576537	NM_001172509.2(SATB2):c.2104del (p.Asp702fs)	LOC126806462, SATB2 (D702fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2573336	NM_001172509.2(SATB2):c.430C>T (p.Gln144Ter)	SATB2 (Q144*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2573022	NM_001172509.2(SATB2):c.1486A>G (p.Lys496Glu)	SATB2 (K496E)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2505510	NM_001172509.2(SATB2):c.1961T>G (p.Leu654Arg)	LOC126806462, SATB2 (L654R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2443993	NM_001172509.2(SATB2):c.1423_1424insCTTAAT (p.Lys475delinsThrTer)	SATB2	Insertion (nonsense)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2435659	NM_001172509.2(SATB2):c.734A>G (p.Tyr245Cys)	SATB2 (Y245C)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2435658	NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)	SATB2 (E185D)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2435656	NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)	SATB2 (K53R)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2430097	NM_001172509.2(SATB2):c.1166G>C (p.Arg389Pro)	SATB2 (R389P)	Single nucleotide variant (missense variant)	Developmental disorder	GPathogenic
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 2194338	NM_001172509.2(SATB2):c.2049G>A (p.Ala683=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2161699	NM_001172509.2(SATB2):c.1817C>T (p.Pro606Leu)	LOC126806462, SATB2 (P606L)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2134576	NM_001172509.2(SATB2):c.1905T>C (p.Asp635=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2085751	NM_001172509.2(SATB2):c.1741G>A (p.Val581Ile)	LOC126806462, SATB2 (V581I)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance
Select item 2007588	NM_001172509.2(SATB2):c.2119T>C (p.Ser707Pro)	LOC126806462, SATB2 (S707P)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance
Select item 1967969	NM_001172509.2(SATB2):c.2024A>C (p.Lys675Thr)	LOC126806462, SATB2 (K675T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1941769	NM_001172509.2(SATB2):c.2038C>G (p.Leu680Val)	LOC126806462, SATB2 (L680V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
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 1809708	NM_001172509.2(SATB2):c.1105_1106insT (p.Arg369fs)	SATB2 (R369fs)	Insertion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1809707	NM_001172509.2(SATB2):c.1016del (p.Phe339fs)	SATB2 (F339fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1809706	NM_001172509.2(SATB2):c.805G>T (p.Glu269Ter)	SATB2 (E269*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1809705	NM_001172509.2(SATB2):c.642_643dup (p.Ser215fs)	SATB2 (S215fs)	Microsatellite (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1809704	NM_001172509.2(SATB2):c.622dup (p.Ser208fs)	SATB2 (S208fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1809703	NM_001172509.2(SATB2):c.138del (p.Arg46fs)	SATB2 (R46fs)	Deletion (frameshift variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
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 1809701	NM_001172509.2(SATB2):c.344_346+1dup	SATB2	Duplication (splice donor variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1801210	NM_001172509.2(SATB2):c.1741-1G>A	LOC126806462, SATB2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 1780822	NM_001172509.2(SATB2):c.1825_1826dup (p.Asp609fs)	LOC126806462, SATB2 (D609fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1718206	NM_001172509.2(SATB2):c.1918C>T (p.Pro640Ser)	LOC126806462, SATB2 (P640S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1696761	NM_001172509.2(SATB2):c.700+5290A>G	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1695525	NM_001172509.2(SATB2):c.2015A>T (p.His672Leu)	LOC126806462, SATB2 (H672L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693293	NM_001172509.2(SATB2):c.334G>A (p.Ala112Thr)	SATB2 (A112T)	Single nucleotide variant (missense variant +1 more)	SATB2 associated disorder	GUncertain significance
Select item 1690330	NM_001172509.2(SATB2):c.1474C>T (p.Gln492Ter)	SATB2 (Q492*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1673223	NM_001172509.2(SATB2):c.2177C>T (p.Ala726Val)	LOC126806462, SATB2 (A726V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1670726	NM_001172509.2(SATB2):c.1741-16C>T	LOC126806462, SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1655788	NM_001172509.2(SATB2):c.1771A>C (p.Lys591Gln)	LOC126806462, SATB2 (K591Q)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 1526942	GRCh37/hg19 2q33.1(chr2:200165950-200205229)	SATB2	Copy number loss	not specified	GPathogenic
Select item 1517098	NM_001172509.2(SATB2):c.2164A>C (p.Lys722Gln)	LOC126806462, SATB2 (K722Q)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1513034	NM_001172509.2(SATB2):c.1774G>A (p.Glu592Lys)	LOC126806462, SATB2 (E592K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1484782	NM_001172509.2(SATB2):c.1970A>G (p.His657Arg)	LOC126806462, SATB2 (H657R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 1475244	NM_001172509.2(SATB2):c.1751G>A (p.Arg584Lys)	LOC126806462, SATB2 (R584K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1385085	NM_001172509.2(SATB2):c.2130G>C (p.Met710Ile)	LOC126806462, SATB2 (M710I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354101	NM_001172509.2(SATB2):c.2190T>A (p.Ile730=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1352856	NM_001172509.2(SATB2):c.1852C>T (p.Arg618Cys)	LOC126806462, SATB2 (R618C)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1341312	GRCh37/hg19 2q33.1(chr2:200245985-200406185)x1	SATB2	Copy number loss	not provided	GPathogenic
Select item 1331319	NM_001172509.2(SATB2):c.2122G>A (p.Glu708Lys)	LOC126806462, SATB2 (E708K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323551	NM_001172509.2(SATB2):c.1705dup (p.Gln569fs)	SATB2 (Q569fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1315184	NM_001172509.2(SATB2):c.2137G>A (p.Val713Met)	LOC126806462, SATB2 (V713M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307290	NM_001172509.2(SATB2):c.1743_1745dup (p.Leu582dup)	LOC126806462, SATB2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1222694	NM_001172509.2(SATB2):c.1741-213A>G	LOC126806462, SATB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185716	NM_001172509.2(SATB2):c.1800G>A (p.Ala600=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1178171	NM_001172509.2(SATB2):c.1741-271G>T	LOC126806462, SATB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1172597	NM_001172509.2(SATB2):c.1924C>T (p.Gln642Ter)	LOC126806462, SATB2 (Q642*)	Single nucleotide variant (nonsense)	Cerebellar ataxia	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 1160959	NM_001172509.2(SATB2):c.1853G>A (p.Arg618His)	LOC126806462, SATB2 (R618H)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1160132	NM_001172509.2(SATB2):c.1806C>T (p.Pro602=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1159767	NM_001172509.2(SATB2):c.1999C>A (p.Arg667=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1158579	NM_001172509.2(SATB2):c.1827C>T (p.Asp609=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign

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