"Genome-Nilou Lab"[submitter] AND "CAMK2B"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192692	NM_001220.5(CAMK2B):c.*2+103dup	CAMK2B	Duplication (intron variant)	Intellectual disability, autosomal dominant 54	GBenign
Select item 1192565	NM_001220.5(CAMK2B):c.*2+97dup	CAMK2B	Duplication (intron variant)	Intellectual disability, autosomal dominant 54	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 1192567	NM_001220.5(CAMK2B):c.1791G>A (p.Pro597=)	CAMK2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 54 +1 more	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 1192569	NM_001220.5(CAMK2B):c.1176+106dup	CAMK2B	Duplication (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 1192571	NM_001220.5(CAMK2B):c.819+115T>C	CAMK2B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 54	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 1192573	NM_001220.5(CAMK2B):c.573T>C (p.Tyr191=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign