ClinVar for MedGen (Select 436765) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3730189	NM_001172509.2(SATB2):c.758T>C (p.Met253Thr)	SATB2 (M253T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3729216	NM_001172509.2(SATB2):c.474-2_474-1del	SATB2	Deletion (splice acceptor variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 3728680	NM_001172509.2(SATB2):c.1131G>T (p.Val377=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3725293	NM_001172509.2(SATB2):c.1848G>A (p.Arg616=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3718328	NM_001172509.2(SATB2):c.93G>C (p.Val31=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3716917	NM_001172509.2(SATB2):c.1542+15A>G	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3715848	NM_001172509.2(SATB2):c.757A>G (p.Met253Val)	SATB2 (M253V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3711810	NM_001172509.2(SATB2):c.64G>A (p.Asp22Asn)	SATB2 (D22N)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3710786	NM_001172509.2(SATB2):c.1018C>G (p.Leu340Val)	SATB2 (L340V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3706973	NM_001172509.2(SATB2):c.1174-16T>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3704647	NM_001172509.2(SATB2):c.170-20C>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3701245	NM_001172509.2(SATB2):c.169+14G>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3700691	NM_001172509.2(SATB2):c.358C>T (p.Leu120=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3699304	NM_001172509.2(SATB2):c.387T>C (p.Ser129=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3690890	NM_001172509.2(SATB2):c.1137A>G (p.Gln379=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3690448	NM_001172509.2(SATB2):c.435T>C (p.Asp145=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3687393	NM_001172509.2(SATB2):c.474-20A>G	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3683393	NM_001172509.2(SATB2):c.1386+19G>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3682429	NM_001172509.2(SATB2):c.1846C>T (p.Arg616Trp)	LOC126806462, SATB2 (R616W)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3679225	NM_001172509.2(SATB2):c.701-4A>G	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 3672851	NM_001172509.2(SATB2):c.2107A>G (p.Ser703Gly)	LOC126806462, SATB2 (S703G)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3672019	NM_001172509.2(SATB2):c.1086A>G (p.Pro362=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3670910	NM_001172509.2(SATB2):c.1741-7T>A	LOC126806462, SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3669956	NM_001172509.2(SATB2):c.1299C>T (p.Tyr433=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3669180	NM_001172509.2(SATB2):c.2130G>A (p.Met710Ile)	LOC126806462, SATB2 (M710I)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3668778	NM_001172509.2(SATB2):c.597+4A>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3666602	NM_001172509.2(SATB2):c.1061C>G (p.Thr354Ser)	SATB2 (T354S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3665921	NM_001172509.2(SATB2):c.1069T>C (p.Ser357Pro)	SATB2 (S357P)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3665083	NM_001172509.2(SATB2):c.465A>G (p.Gln155=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3664689	NM_001172509.2(SATB2):c.191G>T (p.Cys64Phe)	SATB2 (C64F)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3664433	NM_001172509.2(SATB2):c.1912C>T (p.Leu638=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3661444	NM_001172509.2(SATB2):c.470A>G (p.Gln157Arg)	SATB2 (Q157R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3654619	NM_001172509.2(SATB2):c.2101A>G (p.Asn701Asp)	LOC126806462, SATB2 (N701D)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 3651046	NM_001172509.2(SATB2):c.139C>A (p.Pro47Thr)	SATB2 (P47T)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3649675	NM_001172509.2(SATB2):c.546G>A (p.Leu182=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3648622	NM_001172509.2(SATB2):c.2056G>A (p.Val686Met)	LOC126806462, SATB2 (V686M)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3648522	NM_001172509.2(SATB2):c.2115dup (p.Gly706fs)	LOC126806462, SATB2 (G706fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3647196	NM_001172509.2(SATB2):c.216T>A (p.Ser72=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3643531	NM_001172509.2(SATB2):c.136A>T (p.Arg46Trp)	SATB2 (R46W)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3639382	NM_001172509.2(SATB2):c.1975A>G (p.Ile659Val)	LOC126806462, SATB2 (I659V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3631234	NM_001172509.2(SATB2):c.898C>T (p.Pro300Ser)	SATB2 (P300S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3629957	NM_001172509.2(SATB2):c.751C>T (p.Arg251Cys)	SATB2 (R251C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3627951	NM_001172509.2(SATB2):c.570A>G (p.Thr190=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3620636	NM_001172509.2(SATB2):c.598-14A>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3618821	NM_001172509.2(SATB2):c.471A>G (p.Gln157=)	SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3616438	NM_001172509.2(SATB2):c.2178A>T (p.Ala726=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3614365	NM_001172509.2(SATB2):c.2031A>G (p.Lys677=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3614140	NM_001172509.2(SATB2):c.230A>G (p.Asn77Ser)	SATB2 (N77S)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3612617	NM_001172509.2(SATB2):c.2179C>T (p.Pro727Ser)	LOC126806462, SATB2 (P727S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 3611638	NM_001172509.2(SATB2):c.1542+13del	SATB2	Deletion (intron variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 3606264	NM_001172509.2(SATB2):c.1174-17T>C	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3572966	NM_001172509.2(SATB2):c.235_239delinsC (p.Glu79fs)	SATB2 (E79fs)	Indel (frameshift variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 3572890	NM_001172509.2(SATB2):c.1600del (p.Leu534fs)	SATB2 (L534fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 3544391	NM_001172509.2(SATB2):c.701-2A>C	SATB2	Single nucleotide variant (splice acceptor variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 3437461	NM_001172509.2(SATB2):c.1864T>G (p.Ser622Ala)	LOC126806462, SATB2 (S622A)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance
Select item 3382843	NM_001172509.2(SATB2):c.701-2A>G	SATB2	Single nucleotide variant (splice acceptor variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 3382838	NM_001172509.2(SATB2):c.1225dup (p.Gln409fs)	SATB2 (Q409fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 3382829	NM_001172509.2(SATB2):c.54_55insCTCC (p.Gly19fs)	SATB2 (G19fs)	Insertion (frameshift variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 3377024	NM_001172509.2(SATB2):c.988C>T (p.Gln330Ter)	SATB2 (Q330*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 3370502	NM_001172509.2(SATB2):c.1174-4T>G	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3370478	NM_001172509.2(SATB2):c.1763dup (p.Pro589fs)	LOC126806462, SATB2 (P589fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 3366930	NM_001172509.2(SATB2):c.1126A>C (p.Ser376Arg)	SATB2 (S376R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 3363140	NM_012086.5(GTF3C3):c.2469G>C (p.Gln823His)	GTF3C3 (Q823H)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
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 3064231	NM_001172509.2(SATB2):c.1135del (p.Gln379fs)	SATB2 (Q379fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
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 3026190	NM_001172509.2(SATB2):c.300G>A (p.Ala100=)	SATB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 +1 more	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

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