ClinVar for MedGen (Select 862965) - ClinVar

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Items: 66

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26619121.	NM_003108.4(SOX11):c.160A>G (p.Asn54Asp) GRCh37: Chr2:5833013 GRCh38: Chr2:5692881	SOX11	N54D	Intellectual disability, autosomal dominant 27	Likely pathogenic (Dec 14, 2022)	no assertion criteria provided
Select item 24995522.	NM_003108.4(SOX11):c.353A>G (p.Tyr118Cys) GRCh37: Chr2:5833206 GRCh38: Chr2:5693074	SOX11	Y118C	Intellectual disability, autosomal dominant 27	Likely pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 24430313.	NM_003108.4(SOX11):c.151C>G (p.Arg51Gly) GRCh37: Chr2:5833004 GRCh38: Chr2:5692872	SOX11	R51G	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 24430304.	NM_003108.4(SOX11):c.148A>C (p.Lys50Gln) GRCh37: Chr2:5833001 GRCh38: Chr2:5692869	SOX11	K50Q	Intellectual disability, autosomal dominant 27	Pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 24430295.	NM_003108.4(SOX11):c.150G>C (p.Lys50Asn) GRCh37: Chr2:5833003 GRCh38: Chr2:5692871	SOX11	K50N	Intellectual disability, autosomal dominant 27	Pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 24430286.	NM_003108.4(SOX11):c.146T>A (p.Ile49Asn) GRCh37: Chr2:5832999 GRCh38: Chr2:5692867	SOX11	I49N	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 24430277.	NM_003108.4(SOX11):c.820A>T (p.Lys274Ter) GRCh37: Chr2:5833673 GRCh38: Chr2:5693541	SOX11	K274*	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 24430268.	NM_003108.4(SOX11):c.425C>G (p.Ala142Gly) GRCh37: Chr2:5833278 GRCh38: Chr2:5693146	SOX11	A142G	Intellectual disability, autosomal dominant 27	Uncertain significance (Mar 9, 2023)	criteria provided, single submitter
Select item 24430259.	NM_003108.4(SOX11):c.359C>A (p.Pro120His) GRCh37: Chr2:5833212 GRCh38: Chr2:5693080	SOX11	P120H	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244302410.	NM_003108.4(SOX11):c.337T>C (p.Tyr113His) GRCh37: Chr2:5833190 GRCh38: Chr2:5693058	SOX11	Y113H	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244302311.	NM_003108.4(SOX11):c.139G>A (p.Gly47Ser) GRCh37: Chr2:5832992 GRCh38: Chr2:5692860	SOX11	G47S	Intellectual disability, autosomal dominant 27	Uncertain significance (Mar 9, 2023)	criteria provided, single submitter
Select item 244302212.	NM_003108.4(SOX11):c.527C>A (p.Ala176Glu) GRCh37: Chr2:5833380 GRCh38: Chr2:5693248	SOX11	A176E	Intellectual disability, autosomal dominant 27	Uncertain significance (Mar 9, 2023)	criteria provided, single submitter
Select item 244302113.	NM_003108.4(SOX11):c.326A>C (p.His109Pro) GRCh37: Chr2:5833179 GRCh38: Chr2:5693047	SOX11	H109P	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244302014.	NM_003108.4(SOX11):c.317G>C (p.Arg106Pro) GRCh37: Chr2:5833170 GRCh38: Chr2:5693038	SOX11	R106P	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244301915.	NM_003108.4(SOX11):c.294C>G (p.Phe98Leu) GRCh37: Chr2:5833147 GRCh38: Chr2:5693015	SOX11	F98L	Intellectual disability, autosomal dominant 27	Uncertain significance (Mar 9, 2023)	criteria provided, single submitter
Select item 244301816.	NM_003108.4(SOX11):c.259T>C (p.Trp87Arg) GRCh37: Chr2:5833112 GRCh38: Chr2:5692980	SOX11	W87R	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244301717.	NM_003108.4(SOX11):c.250G>A (p.Gly84Ser) GRCh37: Chr2:5833103 GRCh38: Chr2:5692971	SOX11	G84S	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244301618.	NM_003108.4(SOX11):c.223C>G (p.His75Asp) GRCh37: Chr2:5833076 GRCh38: Chr2:5692944	SOX11	H75D	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244301519.	NM_003108.4(SOX11):c.191G>T (p.Arg64Leu) GRCh37: Chr2:5833044 GRCh38: Chr2:5692912	SOX11	R64L	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244301420.	NM_003108.4(SOX11):c.176G>A (p.Trp59Ter) GRCh37: Chr2:5833029 GRCh38: Chr2:5692897	SOX11	W59*	Intellectual disability, autosomal dominant 27	Pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244301321.	NM_003108.4(SOX11):c.190C>A (p.Arg64Ser) GRCh37: Chr2:5833043 GRCh38: Chr2:5692911	SOX11	R64S	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244301222.	NM_003108.4(SOX11):c.157A>G (p.Met53Val) GRCh37: Chr2:5833010 GRCh38: Chr2:5692878	SOX11	M53V	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244301123.	NM_003108.4(SOX11):c.158T>G (p.Met53Arg) GRCh37: Chr2:5833011 GRCh38: Chr2:5692879	SOX11	M53R	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244301024.	NM_003108.4(SOX11):c.159G>A (p.Met53Ile) GRCh37: Chr2:5833012 GRCh38: Chr2:5692880	SOX11	M53I	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244300925.	NM_003108.4(SOX11):c.155C>T (p.Pro52Leu) GRCh37: Chr2:5833008 GRCh38: Chr2:5692876	SOX11	P52L	Intellectual disability, autosomal dominant 27, not provided	Pathogenic/Likely pathogenic (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 244300826.	NM_003108.4(SOX11):c.152G>T (p.Arg51Leu) GRCh37: Chr2:5833005 GRCh38: Chr2:5692873	SOX11	R51L	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 244300727.	NM_003108.4(SOX11):c.87C>A (p.Cys29Ter) GRCh37: Chr2:5832940 GRCh38: Chr2:5692808	SOX11	C29*	Intellectual disability, autosomal dominant 27	Pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 243625528.	NM_003108.4(SOX11):c.1153G>T (p.Ala385Ser) GRCh37: Chr2:5834006 GRCh38: Chr2:5693874	SOX11	A385S	Intellectual disability, autosomal dominant 27	Uncertain significance (Mar 26, 2021)	criteria provided, single submitter
Select item 243625429.	NM_003108.4(SOX11):c.400G>T (p.Ala134Ser) GRCh37: Chr2:5833253 GRCh38: Chr2:5693121	SOX11	A134S	Intellectual disability, autosomal dominant 27	Uncertain significance (Mar 23, 2020)	criteria provided, single submitter
Select item 243175130.	NM_003108.4(SOX11):c.657C>A (p.Cys219Ter) GRCh37: Chr2:5833510 GRCh38: Chr2:5693378	SOX11	C219*	Intellectual disability, autosomal dominant 27	Likely pathogenic (Jan 6, 2023)	criteria provided, single submitter
Select item 243090731.	NM_003108.4(SOX11):c.191G>C (p.Arg64Pro) GRCh37: Chr2:5833044 GRCh38: Chr2:5692912	SOX11	R64P	Intellectual disability, autosomal dominant 27, not provided	Likely pathogenic (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 180577632.	NM_003108.4(SOX11):c.724G>C (p.Glu242Gln) GRCh37: Chr2:5833577 GRCh38: Chr2:5693445	SOX11	E242Q	Intellectual disability, autosomal dominant 27	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 180406033.	NM_003108.4(SOX11):c.250G>C (p.Gly84Arg) GRCh37: Chr2:5833103 GRCh38: Chr2:5692971	SOX11	G84R	Intellectual disability, autosomal dominant 27	Pathogenic (Jun 5, 2020)	criteria provided, single submitter
Select item 180405934.	NM_003108.4(SOX11):c.146T>G (p.Ile49Ser) GRCh37: Chr2:5832999 GRCh38: Chr2:5692867	SOX11	I49S	Intellectual disability, autosomal dominant 27	Likely pathogenic (Aug 18, 2020)	criteria provided, single submitter
Select item 180258635.	NM_003108.4(SOX11):c.159G>T (p.Met53Ile) GRCh37: Chr2:5833012 GRCh38: Chr2:5692880	SOX11	M53I	Intellectual disability, autosomal dominant 27	Likely pathogenic (Nov 29, 2022)	criteria provided, single submitter
Select item 170538636.	NM_003108.4(SOX11):c.190C>T (p.Arg64Cys) GRCh37: Chr2:5833043 GRCh38: Chr2:5692911	SOX11	R64C	Intellectual disability, autosomal dominant 27	Conflicting interpretations of pathogenicity (Mar 9, 2023)	criteria provided, conflicting interpretations
Select item 168622237.	NM_003108.4(SOX11):c.170T>C (p.Met57Thr) GRCh37: Chr2:5833023 GRCh38: Chr2:5692891	SOX11	M57T	Intellectual disability, autosomal dominant 27, not provided	Pathogenic/Likely pathogenic (Mar 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 168545138.	NM_003108.4(SOX11):c.167T>G (p.Phe56Cys) GRCh37: Chr2:5833020 GRCh38: Chr2:5692888	SOX11	F56C	Intellectual disability, autosomal dominant 27	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167956939.	NM_003108.4(SOX11):c.1153G>A (p.Ala385Thr) GRCh37: Chr2:5834006 GRCh38: Chr2:5693874	SOX11	A385T	Intellectual disability, autosomal dominant 27	Uncertain significance (Apr 30, 2021)	criteria provided, single submitter
Select item 149356340.	NM_003108.4(SOX11):c.151C>T (p.Arg51Trp) GRCh37: Chr2:5833004 GRCh38: Chr2:5692872	SOX11	R51W	Intellectual disability, autosomal dominant 27, not provided	Conflicting interpretations of pathogenicity (Mar 9, 2023)	criteria provided, conflicting interpretations
Select item 134234141.	NM_003108.4(SOX11):c.701A>G (p.Glu234Gly) GRCh37: Chr2:5833554 GRCh38: Chr2:5693422	SOX11	E234G	Intellectual disability, autosomal dominant 27, not provided	Uncertain significance (Jan 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133878542.	NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs) GRCh37: Chr2:5833503-5833504 GRCh38: Chr2:5693371-5693372	SOX11	K218fs	Intellectual disability, autosomal dominant 27	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133280543.	NM_003108.4(SOX11):c.239C>T (p.Ser80Phe) GRCh37: Chr2:5833092 GRCh38: Chr2:5692960	SOX11	S80F	Intellectual disability, autosomal dominant 27	Likely pathogenic	criteria provided, single submitter
Select item 132020644.	NM_003108.4(SOX11):c.886G>T (p.Glu296Ter) GRCh37: Chr2:5833739 GRCh38: Chr2:5693607	SOX11	E296*	Intellectual disability, autosomal dominant 27	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 130127245.	NM_003108.4(SOX11):c.142C>G (p.His48Asp) GRCh37: Chr2:5832995 GRCh38: Chr2:5692863	SOX11	H48D	Intellectual disability, autosomal dominant 27, not provided	Uncertain significance (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 129700146.	NM_003108.4(SOX11):c.309GCGGCT[3] (p.104RL[3]) GRCh37: Chr2:5833161-5833162 GRCh38: Chr2:5693029-5693030	SOX11		Intellectual disability, autosomal dominant 27	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 118436647.	NM_003108.4(SOX11):c.727C>G (p.Pro243Ala) GRCh37: Chr2:5833580 GRCh38: Chr2:5693448	SOX11	P243A	Intellectual disability, autosomal dominant 27	Uncertain significance (Jun 11, 2020)	criteria provided, single submitter
Select item 106742448.	NM_003108.4(SOX11):c.168C>G (p.Phe56Leu) GRCh37: Chr2:5833021 GRCh38: Chr2:5692889	SOX11	F56L	not provided, Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106726049.	NM_003108.4(SOX11):c.152G>A (p.Arg51Gln) GRCh37: Chr2:5833005 GRCh38: Chr2:5692873	SOX11	R51Q	not provided, Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103287450.	NM_003108.4(SOX11):c.787C>A (p.Pro263Thr) GRCh37: Chr2:5833640 GRCh38: Chr2:5693508	SOX11	P263T	Intellectual disability, autosomal dominant 27	Uncertain significance (Jun 11, 2018)	criteria provided, single submitter
Select item 103287351.	NM_003108.4(SOX11):c.1147G>T (p.Gly383Cys) GRCh37: Chr2:5834000 GRCh38: Chr2:5693868	SOX11	G383C	Intellectual disability, autosomal dominant 27	Uncertain significance (Jun 19, 2018)	criteria provided, single submitter
Select item 102967152.	NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) GRCh37: Chr2:5833553 GRCh38: Chr2:5693421	SOX11	E234*	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99698653.	NM_003108.4(SOX11):c.538G>A (p.Ala180Thr) GRCh37: Chr2:5833391 GRCh38: Chr2:5693259	SOX11	A180T	Intellectual disability, autosomal dominant 27	Uncertain significance (May 26, 2020)	criteria provided, single submitter
Select item 97489354.	NM_003108.4(SOX11):c.359C>T (p.Pro120Leu) GRCh37: Chr2:5833212 GRCh38: Chr2:5693080	SOX11	P120L	Intellectual disability, autosomal dominant 27	Likely pathogenic	criteria provided, single submitter
Select item 97062855.	NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) GRCh37: Chr2:5833079 GRCh38: Chr2:5692947	SOX11	N76D	Intellectual disability, autosomal dominant 27, not provided	Conflicting interpretations of pathogenicity (Mar 9, 2023)	criteria provided, conflicting interpretations
Select item 87038856.	NM_003108.4(SOX11):c.305C>T (p.Ala102Val) GRCh37: Chr2:5833158 GRCh38: Chr2:5693026	SOX11	A102V	Intellectual disability, autosomal dominant 27	Likely pathogenic (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80769457.	NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser) GRCh37: Chr2:5833206 GRCh38: Chr2:5693074	SOX11	Y118S	Intellectual disability, autosomal dominant 27	Pathogenic (Jul 30, 2018)	criteria provided, single submitter
Select item 80164858.	NM_003108.4(SOX11):c.1109C>T (p.Ser370Phe) GRCh37: Chr2:5833962 GRCh38: Chr2:5693830	SOX11	S370F	Intellectual disability, autosomal dominant 27	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 66657159.	NM_003108.4(SOX11):c.1216del (p.Ser406fs) GRCh37: Chr2:5834069 GRCh38: Chr2:5693937	SOX11	S406fs	Intellectual disability, autosomal dominant 27	Likely pathogenic (Sep 4, 2018)	criteria provided, single submitter
Select item 62006960.	NM_003108.4(SOX11):c.322A>G (p.Lys108Glu) GRCh37: Chr2:5833175 GRCh38: Chr2:5693043	SOX11	K108E	Intellectual disability, autosomal dominant 27	Likely pathogenic (Dec 28, 2017)	criteria provided, single submitter
Select item 59874761.	NM_003108.4(SOX11):c.293del (p.Phe98fs) GRCh37: Chr2:5833145 GRCh38: Chr2:5693013	SOX11	F98fs	Intellectual disability, autosomal dominant 27	Likely pathogenic (Sep 21, 2018)	criteria provided, single submitter
Select item 52093662.	NM_003108.4(SOX11):c.791C>A (p.Ser264Ter) GRCh37: Chr2:5833644 GRCh38: Chr2:5693512	SOX11	S264*	Inborn genetic diseases, Intellectual disability, autosomal dominant 27	Pathogenic (Dec 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42067563.	NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) GRCh37: Chr2:5833152 GRCh38: Chr2:5693020	SOX11	R100P	Intellectual disability, autosomal dominant 27, not provided	Pathogenic/Likely pathogenic (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37439664.	NM_003108.4(SOX11):c.1286G>A (p.Trp429Ter) GRCh37: Chr2:5834139 GRCh38: Chr2:5694007	SOX11	W429*	Intellectual disability, autosomal dominant 27	Pathogenic (May 1, 2016)	no assertion criteria provided
Select item 13953065.	NM_003108.4(SOX11):c.178T>C (p.Ser60Pro) GRCh37: Chr2:5833031 GRCh38: Chr2:5692899	SOX11	S60P	Intellectual disability, autosomal dominant 27	Pathogenic (Jun 2, 2014)	no assertion criteria provided
Select item 13952966.	NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) GRCh37: Chr2:5833200 GRCh38: Chr2:5693068	SOX11	Y116C	Intellectual disability, autosomal dominant 27	Uncertain significance (Oct 30, 2017)	criteria provided, single submitter

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Items: 66