Related gene-specific medical variations for Gene (Select 815) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920686	NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)	CAMK2A (R259C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GLikely pathogenic
Select item 2439702	NM_015981.4(CAMK2A):c.411+1G>C	CAMK2A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2439701	NM_015981.4(CAMK2A):c.595T>A (p.Cys199Ser)	CAMK2A (C199S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439700	NM_015981.4(CAMK2A):c.691G>T (p.Asp231Tyr)	CAMK2A (D231Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438786	NM_015981.4(CAMK2A):c.851_857delinsTGCATG (p.Gln284fs)	CAMK2A (Q284fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1700224	NM_015981.4(CAMK2A):c.785_790del (p.Ala262_Ala263del)	CAMK2A	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 53	GLikely pathogenic
Select item 1696674	NM_015981.4(CAMK2A):c.712G>C (p.Asp238His)	CAMK2A (D238H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GUncertain significance
Select item 1342475	NM_015981.4(CAMK2A):c.270C>T (p.Asp90=)	CAMK2A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 53	GUncertain significance
Select item 975359	NM_015981.4(CAMK2A):c.329C>T (p.Ala110Val)	CAMK2A (A110V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GLikely pathogenic
Select item 975358	NM_015981.4(CAMK2A):c.1238-4C>A	CAMK2A	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 870768	NM_015981.4(CAMK2A):c.902G>A (p.Gly301Glu)	CAMK2A (G301E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic