ClinVar for MedGen (Select 1623344) - ClinVar

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Items: 30

	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 2506989	NM_015981.4(CAMK2A):c.1419G>A (p.Trp473Ter)	CAMK2A (W462* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 53	GUncertain significance
Select item 2442356	NM_015981.4(CAMK2A):c.755T>C (p.Leu252Pro)	CAMK2A (L252P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GLikely pathogenic
Select item 2442355	NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)	CAMK2A (E139Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GLikely pathogenic
Select item 1805031	NM_015981.4(CAMK2A):c.271C>T (p.Leu91=)	CAMK2A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 53	GUncertain significance
Select item 1804079	NM_015981.4(CAMK2A):c.666C>A (p.Tyr222Ter)	CAMK2A (Y222*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 53	GPathogenic
Select item 1803780	NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)	CAMK2A (A295D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GConflicting classifications of pathogenicity
Select item 1709169	NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter)	CAMK2A (R28*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
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 1285567	NM_015981.4(CAMK2A):c.59G>A (p.Gly20Asp)	CAMK2A (G20D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GLikely pathogenic
Select item 1192691	NM_015981.4(CAMK2A):c.158-19A>C	CAMK2A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 63 +1 more	GBenign
Select item 1192690	NM_015981.4(CAMK2A):c.1238-44G>A	CAMK2A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 63 +1 more	GBenign
Select item 1192689	NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1192688	NM_015981.4(CAMK2A):c.1467-87A>T	CAMK2A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 63 +1 more	GBenign
Select item 1192687	NM_015981.4(CAMK2A):c.1467-4A>G	CAMK2A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 63 +1 more	GBenign
Select item 1162321	NM_015981.4(CAMK2A):c.524G>C (p.Gly175Ala)	CAMK2A (G175A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GLikely pathogenic
Select item 988756	NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)	CAMK2A (R74*)	Single nucleotide variant (nonsense)	not provided	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 666572	NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys)	CAMK2A (E17K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53 +1 more	GLikely pathogenic
Select item 560173	NM_015981.4(CAMK2A):c.817-1G>A	CAMK2A	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 53	GPathogenic
Select item 560171	NM_015981.4(CAMK2A):c.635C>A (p.Pro212Gln)	CAMK2A (P212Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GPathogenic
Select item 430918	NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro)	CAMK2A (T286P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53 +1 more	GPathogenic
Select item 430917	NM_015981.4(CAMK2A):c.845A>G (p.His282Arg)	CAMK2A (H282R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53 +1 more	GPathogenic
Select item 430916	NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu)	CAMK2A (P212L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 430914	NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val)	CAMK2A (E183V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53 +1 more	GPathogenic
Select item 430913	NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp)	CAMK2A (E109D)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic
Select item 430912	NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser)	CAMK2A (F98S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53 +1 more	GPathogenic
Select item 218729	NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu)	CAMK2A (P235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 30