ClinVar for MedGen (Select 909039) - ClinVar

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Items: 26

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14418311.	NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) GRCh37: Chr11:44135775 GRCh38: Chr11:44114225	EXT2	R223W, R256W	Exostoses, multiple, type 2, Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome, not provided	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14217872.	NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) GRCh37: Chr11:44253909 GRCh38: Chr11:44232359	EXT2	R567W, R557W, R590W	Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13341003.	NM_207122.2(EXT2):c.939+2T>C GRCh37: Chr11:44146536 GRCh38: Chr11:44124986	EXT2		Seizures-scoliosis-macrocephaly syndrome	Likely pathogenic (Jul 29, 2019)	criteria provided, single submitter
Select item 13243574.	NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter) GRCh37: Chr11:44228353 GRCh38: Chr11:44206803	EXT2	W502, W512, W535*	Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome	Likely pathogenic (Sep 7, 2021)	criteria provided, single submitter
Select item 13197985.	NM_207122.2(EXT2):c.1305+2T>C GRCh37: Chr11:44193294 GRCh38: Chr11:44171744	EXT2		not provided, Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2	Likely pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9700876.	NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) GRCh37: Chr11:44193164 GRCh38: Chr11:44171614	EXT2	R393W, R426W	Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome	Uncertain significance (May 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8383137.	NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) GRCh37: Chr11:44257852 GRCh38: Chr11:44236302	EXT2	R682, R649, R659*	Exostoses, multiple, type 2, Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome, not provided	Conflicting interpretations of pathogenicity (May 31, 2023)	criteria provided, conflicting interpretations
Select item 8168858.	NM_207122.2(EXT2):c.1173G>A (p.Gln391=) GRCh37: Chr11:44151688 GRCh38: Chr11:44130138	EXT2		Seizures-scoliosis-macrocephaly syndrome	Likely pathogenic (Jun 21, 2018)	criteria provided, single submitter
Select item 7880709.	NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) GRCh37: Chr11:44129644 GRCh38: Chr11:44108094	EXT2	R128W, R161W	Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome, Multiple congenital exostosis	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 77219510.	NM_207122.2(EXT2):c.1527A>G (p.Leu509=) GRCh37: Chr11:44228374 GRCh38: Chr11:44206824	EXT2		Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2	Likely benign (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63861911.	NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys) GRCh37: Chr11:44255681 GRCh38: Chr11:44234131	EXT2	Y608C, Y641C, Y618C	Exostoses, multiple, type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 63837912.	NM_207122.2(EXT2):c.571A>G (p.Met191Val) GRCh37: Chr11:44130778 GRCh38: Chr11:44109228	EXT2	M191V, M224V	Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58000313.	NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) GRCh37: Chr11:44219466 GRCh38: Chr11:44197916	EXT2, LOC126861201	R498, R465, R475*	Exostoses, multiple, type 2, not provided, Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 54798914.	NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) GRCh37: Chr11:44148445 GRCh38: Chr11:44126895	EXT2	V340D, V373D	Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30458515.	NM_207122.2(EXT2):c.1017T>C (p.Cys339=) GRCh37: Chr11:44148443 GRCh38: Chr11:44126893	EXT2		Exostoses, multiple, type 1, Exostoses, multiple, type 2, Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 30457716.	NM_207122.2(EXT2):c.519G>C (p.Ala173=) GRCh37: Chr11:44129781 GRCh38: Chr11:44108231	EXT2		Exostoses, multiple, type 1, Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2, not provided, Exostoses, multiple, type 2	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 30457217.	NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) GRCh37: Chr11:44129273 GRCh38: Chr11:44107723	EXT2	S37L, S4L	Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 28816518.	NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) GRCh37: Chr11:44135806 GRCh38: Chr11:44114256	EXT2	Y233C, Y266C	Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2, not provided, Exostoses, multiple, type 2	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 27980519.	NM_207122.2(EXT2):c.906_907dup (p.His303fs) GRCh37: Chr11:44146500-44146501 GRCh38: Chr11:44124950-44124951	EXT2	H336fs, H303fs	not provided, Exostoses, multiple, type 2, Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome	Pathogenic (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21889420.	NM_207122.1(EXT2):c.[260T>G;283C>T] GRCh37: Chr11:44129522 Chr11:44129545 GRCh38: Chr11:44107972 Chr11:44107995	EXT2, EXT2	M120R, M87R, R95C, R128C	Seizures-scoliosis-macrocephaly syndrome	Pathogenic (Oct 1, 2015)	no assertion criteria provided
Select item 19863621.	NM_207122.2(EXT2):c.1080-18T>A GRCh37: Chr11:44151577 GRCh38: Chr11:44130027	EXT2		Exostoses, multiple, type 1, Seizures-scoliosis-macrocephaly syndrome, not specified, not provided, Exostoses, multiple, type 2	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13421822.	NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) GRCh37: Chr11:44193165 GRCh38: Chr11:44171615	EXT2	R393Q, R426Q	Seizures-scoliosis-macrocephaly syndrome, not provided, Exostoses, multiple, type 2	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 13421523.	NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) GRCh37: Chr11:44148448 GRCh38: Chr11:44126898	EXT2	P341L, P374L	Exostoses, multiple, type 2, Seizures-scoliosis-macrocephaly syndrome, not provided, Exostoses, multiple, type 2	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 13420524.	NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) GRCh37: Chr11:44255774 GRCh38: Chr11:44234224	EXT2	T639M, T672M, T649M	Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 247425.	NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) GRCh37: Chr11:44135787 GRCh38: Chr11:44114237	EXT2	D227N, D260N	Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2, not provided, Exostoses, multiple, type 2	Pathogenic (Jan 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 247226.	NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) GRCh37: Chr11:44129776 GRCh38: Chr11:44108226	EXT2	Q172, Q205	Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2, Hereditary cancer-predisposing syndrome, not provided, Exostoses, multiple, type 2	Pathogenic (May 19, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 26