ClinVar for MedGen (Select 1614787) - ClinVar

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Items: 39

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25064861.	NM_001220.5(CAMK2B):c.601+1G>A GRCh37: Chr7:44282848 GRCh38: Chr7:44243249	CAMK2B		Intellectual disability, autosomal dominant 54	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 24443642.	NM_001220.5(CAMK2B):c.331G>C (p.Ala111Pro) GRCh37: Chr7:44294151 GRCh38: Chr7:44254552	CAMK2B	A111P	Intellectual disability, autosomal dominant 54	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24397043.	NM_001220.5(CAMK2B):c.1639G>C (p.Glu547Gln) GRCh37: Chr7:44260459 GRCh38: Chr7:44220860	CAMK2B	E330Q, E360Q, E384Q, E398Q, E399Q, E423Q, E547Q	Intellectual disability, autosomal dominant 54	Uncertain significance (Jan 27, 2023)	criteria provided, single submitter
Select item 24397034.	NM_001220.5(CAMK2B):c.161-5C>G GRCh37: Chr7:44302668 GRCh38: Chr7:44263069	CAMK2B		Intellectual disability, autosomal dominant 54	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 18062315.	NM_001220.5(CAMK2B):c.1837G>C (p.Asp613His) GRCh37: Chr7:44259825 GRCh38: Chr7:44220226	CAMK2B	D396H, D426H, D439H, D450H, D464H, D465H, D489H, D613H	Intellectual disability, autosomal dominant 54	Uncertain significance (May 25, 2020)	criteria provided, single submitter
Select item 18058676.	NM_001220.5(CAMK2B):c.863_864del (p.Val288fs) GRCh37: Chr7:44281338-44281339 GRCh38: Chr7:44241739-44241740	CAMK2B	V288fs	Intellectual disability, autosomal dominant 54	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 18054567.	NM_001220.5(CAMK2B):c.1310del (p.Pro437fs) GRCh37: Chr7:44269016 GRCh38: Chr7:44229417	CAMK2B	P437fs	Intellectual disability, autosomal dominant 54	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 18041328.	NM_001220.5(CAMK2B):c.342-2A>G GRCh37: Chr7:44286793 GRCh38: Chr7:44247194	CAMK2B		Intellectual disability, autosomal dominant 54	Uncertain significance (Nov 23, 2022)	criteria provided, single submitter
Select item 17122809.	NM_001220.5(CAMK2B):c.1573A>G (p.Ile525Val) GRCh37: Chr7:44266139 GRCh38: Chr7:44226540	CAMK2B	I525V	Intellectual disability, autosomal dominant 54	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 170810910.	NM_001220.5(CAMK2B):c.760A>T (p.Thr254Ser) GRCh37: Chr7:44281876 GRCh38: Chr7:44242277	CAMK2B	T254S	Intellectual disability, autosomal dominant 54	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 168739111.	NM_001220.5(CAMK2B):c.23C>A (p.Thr8Asn) GRCh37: Chr7:44364998 GRCh38: Chr7:44325399	CAMK2B	T8N	Intellectual disability, autosomal dominant 54	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 166535212.	NM_001220.5(CAMK2B):c.1059+15G>A GRCh37: Chr7:44274223 GRCh38: Chr7:44234624	CAMK2B		not provided, Intellectual disability, autosomal dominant 54	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157558213.	NM_001220.5(CAMK2B):c.1260G>A (p.Arg420=) GRCh37: Chr7:44269066 GRCh38: Chr7:44229467	CAMK2B		Intellectual disability, autosomal dominant 54, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156429014.	NM_001220.5(CAMK2B):c.51C>T (p.Tyr17=) GRCh37: Chr7:44364970 GRCh38: Chr7:44325371	CAMK2B		not provided, Intellectual disability, autosomal dominant 54	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142874915.	NM_001220.5(CAMK2B):c.1825G>A (p.Val609Ile) GRCh37: Chr7:44259837 GRCh38: Chr7:44220238	CAMK2B	V609I, V461I, V485I, V392I, V422I, V435I, V446I, V460I	not provided, Intellectual disability, autosomal dominant 54	Uncertain significance (Nov 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134175416.	NM_001220.5(CAMK2B):c.1399G>A (p.Glu467Lys) GRCh37: Chr7:44268464 GRCh38: Chr7:44228865	CAMK2B	E467K	Intellectual disability, autosomal dominant 54, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (May 25, 2023)	criteria provided, conflicting interpretations
Select item 133382217.	NM_001220.5(CAMK2B):c.696+1G>A GRCh37: Chr7:44282158 GRCh38: Chr7:44242559	CAMK2B		Intellectual disability, autosomal dominant 54, not provided	Conflicting interpretations of pathogenicity (Jan 19, 2023)	criteria provided, conflicting interpretations
Select item 132855118.	NM_001220.5(CAMK2B):c.1343C>T (p.Pro448Leu) GRCh37: Chr7:44268520 GRCh38: Chr7:44228921	CAMK2B	P448L	Intellectual disability, autosomal dominant 54	Uncertain significance (Apr 15, 2021)	criteria provided, single submitter
Select item 131034819.	NM_001220.5(CAMK2B):c.1597+1G>A GRCh37: Chr7:44266114 GRCh38: Chr7:44226515	CAMK2B		Intellectual disability, autosomal dominant 54, not provided	Uncertain significance (Apr 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119269220.	NM_001220.5(CAMK2B):c.*2+103dup GRCh37: Chr7:44259554-44259555 GRCh38: Chr7:44219955-44219956	CAMK2B		Intellectual disability, autosomal dominant 54	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 119257321.	NM_001220.5(CAMK2B):c.573T>C (p.Tyr191=) GRCh37: Chr7:44282877 GRCh38: Chr7:44243278	CAMK2B		not provided, Intellectual disability, autosomal dominant 54	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119257222.	NM_001220.5(CAMK2B):c.582T>C (p.Pro194=) GRCh37: Chr7:44282868 GRCh38: Chr7:44243269	CAMK2B		not provided, Intellectual disability, autosomal dominant 54	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119257123.	NM_001220.5(CAMK2B):c.819+115T>C GRCh37: Chr7:44281702 GRCh38: Chr7:44242103	CAMK2B		Intellectual disability, autosomal dominant 54	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 119257024.	NM_001220.5(CAMK2B):c.820-93A>T GRCh37: Chr7:44281475 GRCh38: Chr7:44241876	CAMK2B		Intellectual disability, autosomal dominant 54	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 119256925.	NM_001220.5(CAMK2B):c.1176+106dup GRCh37: Chr7:44272314-44272315 GRCh38: Chr7:44232715-44232716	CAMK2B		Intellectual disability, autosomal dominant 54	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 119256826.	NM_001220.5(CAMK2B):c.1597+38C>T GRCh37: Chr7:44266077 GRCh38: Chr7:44226478	CAMK2B		Intellectual disability, autosomal dominant 54	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 119256727.	NM_001220.5(CAMK2B):c.1791G>A (p.Pro597=) GRCh37: Chr7:44259871 GRCh38: Chr7:44220272	CAMK2B		not provided, Intellectual disability, autosomal dominant 54	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119256628.	NM_001220.5(CAMK2B):c.1956C>T (p.Asn652=) GRCh37: Chr7:44259706 GRCh38: Chr7:44220107	CAMK2B		not provided, Intellectual disability, autosomal dominant 54	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119256529.	NM_001220.5(CAMK2B):c.*2+97dup GRCh37: Chr7:44259561-44259562 GRCh38: Chr7:44219962-44219963	CAMK2B		Intellectual disability, autosomal dominant 54	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 116766430.	NM_001220.5(CAMK2B):c.651G>A (p.Glu217=) GRCh37: Chr7:44282204 GRCh38: Chr7:44242605	CAMK2B		not provided, Intellectual disability, autosomal dominant 54	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 109870631.	NM_001220.5(CAMK2B):c.197G>A (p.Arg66His) GRCh37: Chr7:44302627 GRCh38: Chr7:44263028	CAMK2B	R66H	Intellectual disability, autosomal dominant 54	Uncertain significance (Jul 17, 2020)	criteria provided, single submitter
Select item 97644032.	NM_001220.5(CAMK2B):c.1655del (p.Gly552fs) GRCh37: Chr7:44260443 GRCh38: Chr7:44220844	CAMK2B	G335fs, G365fs, G389fs, G403fs, G404fs, G428fs, G552fs	Intellectual disability, autosomal dominant 54	Uncertain significance (Jan 17, 2020)	criteria provided, single submitter
Select item 56018033.	NM_001220.5(CAMK2B):c.852A>T (p.Arg284Ser) GRCh37: Chr7:44281350 GRCh38: Chr7:44241751	CAMK2B	R284S	Intellectual disability, autosomal dominant 54	Pathogenic (Aug 28, 2018)	no assertion criteria provided
Select item 56017934.	NM_001220.5(CAMK2B):c.638C>T (p.Pro213Leu) GRCh37: Chr7:44282217 GRCh38: Chr7:44242618	CAMK2B	P213L	not provided	Pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 43092535.	NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu) GRCh37: Chr7:44281301 GRCh38: Chr7:44241702	CAMK2B	K301E	Inborn genetic diseases	Likely pathogenic (Nov 7, 2017)	criteria provided, single submitter
Select item 43092336.	NM_001220.5(CAMK2B):c.709G>A (p.Glu237Lys) GRCh37: Chr7:44281927 GRCh38: Chr7:44242328	CAMK2B	E237K	not provided	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 43092237.	NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) GRCh37: Chr7:44283125 GRCh38: Chr7:44243526	CAMK2B	P139L	Intellectual disability, autosomal dominant 54, Inborn genetic diseases, Abnormality of the nervous system, not provided	Pathogenic/Likely pathogenic (Feb 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43092138.	NM_001220.5(CAMK2B):c.328G>A (p.Glu110Lys) GRCh37: Chr7:44294154 GRCh38: Chr7:44254555	CAMK2B	E110K	not provided, Intellectual disability, autosomal dominant 54	Pathogenic (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43092039.	NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) GRCh37: Chr7:44323805 GRCh38: Chr7:44284206	CAMK2B	R29*	Intellectual disability, autosomal dominant 54, not provided	Pathogenic (Sep 2, 2020)	criteria provided, multiple submitters, no conflicts

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Items: 39