ClinVar for MedGen (Select 1614787) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691761	NM_001220.5(CAMK2B):c.903G>A (p.Lys301=)	CAMK2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 2664914	NM_001220.5(CAMK2B):c.1567C>T (p.Pro523Ser)	CAMK2B (P523S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 2506486	NM_001220.5(CAMK2B):c.601+1G>A	CAMK2B	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 54	GLikely pathogenic
Select item 2444364	NM_001220.5(CAMK2B):c.331G>C (p.Ala111Pro)	CAMK2B (A111P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 2439704	NM_001220.5(CAMK2B):c.1639G>C (p.Glu547Gln)	CAMK2B (E330Q +6 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54 +1 more	GUncertain significance
Select item 2439703	NM_001220.5(CAMK2B):c.161-5C>G	CAMK2B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 2152027	NM_001220.5(CAMK2B):c.1991C>T (p.Pro664Leu)	CAMK2B (P515L +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1806231	NM_001220.5(CAMK2B):c.1837G>C (p.Asp613His)	CAMK2B (D396H +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 1805867	NM_001220.5(CAMK2B):c.863_864del (p.Val288fs)	CAMK2B (V288fs)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1805456	NM_001220.5(CAMK2B):c.1310del (p.Pro437fs)	CAMK2B (P437fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 1804132	NM_001220.5(CAMK2B):c.342-2A>G	CAMK2B	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 1712280	NM_001220.5(CAMK2B):c.1573A>G (p.Ile525Val)	CAMK2B (I525V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 54 +1 more	GUncertain significance
Select item 1708109	NM_001220.5(CAMK2B):c.760A>T (p.Thr254Ser)	CAMK2B (T254S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54	GLikely benign
Select item 1687391	NM_001220.5(CAMK2B):c.23C>A (p.Thr8Asn)	CAMK2B (T8N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 1665352	NM_001220.5(CAMK2B):c.1059+15G>A	CAMK2B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 54 +1 more	GBenign/Likely benign
Select item 1575582	NM_001220.5(CAMK2B):c.1260G>A (p.Arg420=)	CAMK2B	Single nucleotide variant (synonymous variant +1 more)	CAMK2B-related condition +2 more	GBenign/Likely benign
Select item 1564290	NM_001220.5(CAMK2B):c.51C>T (p.Tyr17=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1428749	NM_001220.5(CAMK2B):c.1825G>A (p.Val609Ile)	CAMK2B (V609I +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54 +1 more	GUncertain significance
Select item 1341754	NM_001220.5(CAMK2B):c.1399G>A (p.Glu467Lys)	CAMK2B (E467K)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1333822	NM_001220.5(CAMK2B):c.696+1G>A	CAMK2B	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 54 +1 more	GConflicting classifications of pathogenicity
Select item 1328551	NM_001220.5(CAMK2B):c.1343C>T (p.Pro448Leu)	CAMK2B (P448L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 1310348	NM_001220.5(CAMK2B):c.1597+1G>A	CAMK2B	Single nucleotide variant (intron variant +1 more)	Intellectual disability, autosomal dominant 54 +1 more	GUncertain significance
Select item 1192692	NM_001220.5(CAMK2B):c.*2+103dup	CAMK2B	Duplication (intron variant)	Intellectual disability, autosomal dominant 54	GBenign
Select item 1192573	NM_001220.5(CAMK2B):c.573T>C (p.Tyr191=)	CAMK2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 54 +1 more	GBenign
Select item 1192572	NM_001220.5(CAMK2B):c.582T>C (p.Pro194=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1192571	NM_001220.5(CAMK2B):c.819+115T>C	CAMK2B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 54	GBenign
Select item 1192570	NM_001220.5(CAMK2B):c.820-93A>T	CAMK2B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 54	GBenign
Select item 1192569	NM_001220.5(CAMK2B):c.1176+106dup	CAMK2B	Duplication (intron variant)	Intellectual disability, autosomal dominant 54	GBenign
Select item 1192568	NM_001220.5(CAMK2B):c.1597+38C>T	CAMK2B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 54	GBenign
Select item 1192567	NM_001220.5(CAMK2B):c.1791G>A (p.Pro597=)	CAMK2B	Single nucleotide variant (synonymous variant)	CAMK2B-related condition +2 more	GBenign
Select item 1192566	NM_001220.5(CAMK2B):c.1956C>T (p.Asn652=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1192565	NM_001220.5(CAMK2B):c.*2+97dup	CAMK2B	Duplication (intron variant)	Intellectual disability, autosomal dominant 54	GBenign
Select item 1167664	NM_001220.5(CAMK2B):c.651G>A (p.Glu217=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1098706	NM_001220.5(CAMK2B):c.197G>A (p.Arg66His)	CAMK2B (R66H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 976440	NM_001220.5(CAMK2B):c.1655del (p.Gly552fs)	CAMK2B (G335fs +6 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 560180	NM_001220.5(CAMK2B):c.852A>T (p.Arg284Ser)	CAMK2B (R284S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54	GPathogenic
Select item 560179	NM_001220.5(CAMK2B):c.638C>T (p.Pro213Leu)	CAMK2B (P213L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 430925	NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu)	CAMK2B (K301E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 430923	NM_001220.5(CAMK2B):c.709G>A (p.Glu237Lys)	CAMK2B (E237K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 430922	NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	CAMK2B (P139L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54 +3 more	GPathogenic/Likely pathogenic
Select item 430921	NM_001220.5(CAMK2B):c.328G>A (p.Glu110Lys)	CAMK2B (E110K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 430920	NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)	CAMK2B (R29*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 54 +1 more	GPathogenic

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Links from MedGen

Items: 42