"GeneDx"[submitter] AND "CAMK2A"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 2428850	NM_015981.4(CAMK2A):c.1442C>G (p.Ser481Cys)	CAMK2A (S470C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2499227	NM_015981.4(CAMK2A):c.1406G>A (p.Arg469Gln)	CAMK2A (R458Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800528	NM_015981.4(CAMK2A):c.1406G>C (p.Arg469Pro)	CAMK2A (R458P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364224	NM_015981.4(CAMK2A):c.1304A>G (p.Asp435Gly)	CAMK2A (D424G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503188	NM_015981.4(CAMK2A):c.1238-1G>C	CAMK2A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3370589	NM_015981.4(CAMK2A):c.1237+3G>A	CAMK2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3370814	NM_015981.4(CAMK2A):c.1204G>A (p.Gly402Ser)	CAMK2A (G391S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343056	NM_015981.4(CAMK2A):c.1066G>T (p.Val356Leu)	CAMK2A (V345L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803362	NM_015981.4(CAMK2A):c.1003A>G (p.Ser335Gly)	CAMK2A (S335G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804243	NM_015981.4(CAMK2A):c.997A>C (p.Ser333Arg)	CAMK2A (S333R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1342099	NM_015981.4(CAMK2A):c.976G>A (p.Gly326Ser)	CAMK2A (G326S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501822	NM_015981.4(CAMK2A):c.943G>A (p.Gly315Arg)	CAMK2A (G315R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443550	NM_015981.4(CAMK2A):c.940T>C (p.Ser314Pro)	CAMK2A (S314P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722922	NM_015981.4(CAMK2A):c.901G>A (p.Gly301Arg)	CAMK2A (G301R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2446228	NM_015981.4(CAMK2A):c.859_868del (p.Thr286_Val287insTer)	CAMK2A	Deletion (nonsense)	not provided	GUncertain significance
Select item 2662703	NM_015981.4(CAMK2A):c.857C>A (p.Thr286Asn)	CAMK2A (T286N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1327319	NM_015981.4(CAMK2A):c.816G>A (p.Ser272=)	CAMK2A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 63 +2 more	GUncertain significance
Select item 620277	NM_015981.4(CAMK2A):c.809G>A (p.Trp270Ter)	CAMK2A (W270*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1205808	NM_015981.4(CAMK2A):c.701C>G (p.Ser234Trp)	CAMK2A (S234W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368442	NM_015981.4(CAMK2A):c.683G>A (p.Gly228Asp)	CAMK2A (G228D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373207	NM_015981.4(CAMK2A):c.635dup (p.Phe213fs)	CAMK2A (F213fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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 2446663	NM_015981.4(CAMK2A):c.604A>G (p.Ile202Val)	CAMK2A (I202V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249053	NM_015981.4(CAMK2A):c.599-6T>C	CAMK2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683879	NM_015981.4(CAMK2A):c.598+1_598+3del	CAMK2A	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 3369760	NM_015981.4(CAMK2A):c.578dup (p.Val194fs)	CAMK2A (V194fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3369838	NM_015981.4(CAMK2A):c.514G>A (p.Gly172Arg)	CAMK2A (G172R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699804	NM_015981.4(CAMK2A):c.451G>A (p.Ala151Thr)	CAMK2A (A151T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695620	NM_015981.4(CAMK2A):c.445G>A (p.Gly149Ser)	CAMK2A (G149S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316951	NM_015981.4(CAMK2A):c.308C>T (p.Ala103Val)	CAMK2A (A103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988756	NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)	CAMK2A (R74*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1320954	NM_015981.4(CAMK2A):c.157+5G>T	CAMK2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1318485	NM_015981.4(CAMK2A):c.107G>A (p.Gly36Asp)	CAMK2A (G36D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709169	NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter)	CAMK2A (R28*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 53 +1 more	GConflicting classifications of pathogenicity
Select item 3367261	NM_015981.4(CAMK2A):c.54A>T (p.Glu18Asp)	CAMK2A (E18D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372611	NM_015981.4(CAMK2A):c.39C>G (p.Tyr13Ter)	CAMK2A (Y13*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1317016	NM_015981.4(CAMK2A):c.13A>C (p.Thr5Pro)	CAMK2A (T5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361962	NM_015981.4(CAMK2A):c.28A>G (p.Thr10Ala)	CAMK2A (T10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360416	NM_015981.4(CAMK2A):c.485A>T (p.Glu162Val)	CAMK2A (E162V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 42