ClinVar for MedGen (Select 436765) - 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 3254899	NM_001172509.2(SATB2):c.530A>G (p.Asn177Ser)	SATB2 (N177S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
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 3233390	NM_012086.5(GTF3C3):c.1390+3A>G	GTF3C3	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
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 3024331	NM_001172509.2(SATB2):c.866T>G (p.Leu289Ter)	SATB2 (L289*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 3012854	NM_001172509.2(SATB2):c.597+20G>A	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
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 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 3008494	NM_001172509.2(SATB2):c.1639C>T (p.Leu547Phe)	SATB2 (L547F)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
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 3005174	NM_001172509.2(SATB2):c.1003A>G (p.Ile335Val)	SATB2 (I335V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3000854	NM_001172509.2(SATB2):c.700+20T>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2997176	NM_001172509.2(SATB2):c.848G>A (p.Arg283Gln)	SATB2 (R283Q)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2995940	NM_001172509.2(SATB2):c.634G>T (p.Ala212Ser)	SATB2 (A212S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2991896	NM_001172509.2(SATB2):c.678T>C (p.Tyr226=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2971854	NM_001172509.2(SATB2):c.47G>C (p.Arg16Pro)	SATB2 (R16P)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2971310	NM_001172509.2(SATB2):c.982G>T (p.Ala328Ser)	SATB2 (A328S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2958605	NM_001172509.2(SATB2):c.346+11C>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
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 2919299	NM_001172509.2(SATB2):c.663G>A (p.Glu221=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2917890	NM_001172509.2(SATB2):c.598-13T>C	SATB2	Single nucleotide variant (intron 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 2913773	NM_001172509.2(SATB2):c.164T>C (p.Val55Ala)	SATB2 (V55A)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2911477	NM_001172509.2(SATB2):c.170-17G>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2907330	NM_001172509.2(SATB2):c.879G>A (p.Met293Ile)	SATB2 (M293I)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2903643	NM_001172509.2(SATB2):c.927A>G (p.Gln309=)	SATB2	Single nucleotide variant (synonymous 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 2901134	NM_001172509.2(SATB2):c.1328C>T (p.Pro443Leu)	SATB2 (P443L)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2898670	NM_001172509.2(SATB2):c.723C>T (p.Asn241=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2897638	NM_001172509.2(SATB2):c.170-11T>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2897136	NM_001172509.2(SATB2):c.1349C>T (p.Ser450Leu)	SATB2 (S450L)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2896924	NM_001172509.2(SATB2):c.474-11C>G	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2896209	NM_001172509.2(SATB2):c.1174-18T>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2894998	NM_001172509.2(SATB2):c.1321A>G (p.Met441Val)	SATB2 (M441V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2891000	NM_001172509.2(SATB2):c.972C>T (p.Ser324=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2888706	NM_001172509.2(SATB2):c.996T>A (p.Pro332=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2886789	NM_001172509.2(SATB2):c.1350G>A (p.Ser450=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
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 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 2868554	NM_001172509.2(SATB2):c.1007A>G (p.Asn336Ser)	SATB2 (N336S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2866715	NM_001172509.2(SATB2):c.347-4G>A	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2866712	NM_001172509.2(SATB2):c.1481_1491del (p.Glu494fs)	SATB2 (E494fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2866461	NM_001172509.2(SATB2):c.78T>G (p.Pro26=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2866165	NM_001172509.2(SATB2):c.51G>A (p.Arg17=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2864820	NM_001172509.2(SATB2):c.1053A>G (p.Pro351=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2858960	NM_001172509.2(SATB2):c.169+9C>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
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 2851721	NM_001172509.2(SATB2):c.75dup (p.Pro26fs)	SATB2 (P26fs)	Duplication (frameshift variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2851297	NM_001172509.2(SATB2):c.215C>G (p.Ser72Cys)	SATB2 (S72C)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance
Select item 2850897	NM_001172509.2(SATB2):c.994C>A (p.Pro332Thr)	SATB2 (P332T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
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 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 2843915	NM_001172509.2(SATB2):c.1290T>C (p.Asp430=)	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 2840854	NM_001172509.2(SATB2):c.1019del (p.Leu340fs)	SATB2 (L340fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
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 2838014	NM_001172509.2(SATB2):c.8G>C (p.Arg3Pro)	SATB2 (R3P)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2837975	NM_001172509.2(SATB2):c.912A>T (p.Pro304=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2835574	NM_001172509.2(SATB2):c.118C>A (p.Pro40Thr)	SATB2 (P40T)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2833028	NM_001172509.2(SATB2):c.117C>T (p.Ser39=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2831648	NM_001172509.2(SATB2):c.598-4T>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2830155	NM_001172509.2(SATB2):c.473+17A>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
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 2829593	NM_001172509.2(SATB2):c.1074G>T (p.Val358=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2828751	NM_001172509.2(SATB2):c.927A>C (p.Gln309His)	SATB2 (Q309H)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
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 2826336	NM_001172509.2(SATB2):c.91G>A (p.Val31Met)	SATB2 (V31M)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2823923	NM_001172509.2(SATB2):c.170-2A>G	SATB2	Single nucleotide variant (splice acceptor variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
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 2820987	NM_001172509.2(SATB2):c.346G>A (p.Gly116Arg)	SATB2 (G116R)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2817191	NM_001172509.2(SATB2):c.143A>C (p.Asn48Thr)	SATB2 (N48T)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2813164	NM_001172509.2(SATB2):c.15C>G (p.Ser5Arg)	SATB2 (S5R)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2810584	NM_001172509.2(SATB2):c.1497G>A (p.Lys499=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2806963	NM_001172509.2(SATB2):c.762_765dup (p.Pro256fs)	SATB2 (P256fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2805809	NM_001172509.2(SATB2):c.6G>A (p.Glu2=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2803996	NM_001172509.2(SATB2):c.1405A>C (p.Thr469Pro)	SATB2 (T469P)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
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 2797730	NM_001172509.2(SATB2):c.729A>G (p.Ser243=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2794143	NM_001172509.2(SATB2):c.1173+10G>A	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2793604	NM_001172509.2(SATB2):c.474-14G>A	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 2785763	NM_001172509.2(SATB2):c.779A>C (p.Gln260Pro)	SATB2 (Q260P)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2778364	NM_001172509.2(SATB2):c.365G>A (p.Arg122Lys)	SATB2 (R122K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2777114	NM_001172509.2(SATB2):c.1291C>T (p.Arg431Cys)	SATB2 (R431C)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2768916	NM_001172509.2(SATB2):c.14G>A (p.Ser5Asn)	SATB2 (S5N)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2766618	NM_001172509.2(SATB2):c.909T>C (p.Ser303=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	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 2760902	NM_001172509.2(SATB2):c.1075G>C (p.Glu359Gln)	SATB2 (E359Q)	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 2738419	NM_001172509.2(SATB2):c.1008C>T (p.Asn336=)	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

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