815[geneid] - ClinVar - NCBI

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	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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 2655912	NM_015981.4(CAMK2A):c.*296G>C	CAMK2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2655913	NM_015981.4(CAMK2A):c.*227T>A	CAMK2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2655914	NM_015981.4(CAMK2A):c.*190G>A	CAMK2A	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2655915	NM_015981.4(CAMK2A):c.*144G>C	CAMK2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2673034	NM_015981.4(CAMK2A):c.*44A>G	CAMK2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2655916	NM_015981.4(CAMK2A):c.*17C>T	CAMK2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 3063657	NM_015981.4(CAMK2A):c.1467-7C>G	CAMK2A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 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 560170	NM_015981.4(CAMK2A):c.1429C>T (p.His477Tyr)	CAMK2A (H477Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 63	GPathogenic
Select item 1378315	NM_015981.4(CAMK2A):c.1426G>T (p.Val476Phe)	CAMK2A (V465F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1192689	NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2627815	NM_015981.4(CAMK2A):c.1409A>G (p.Asp470Gly)	CAMK2A (D459G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
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 1335604	NM_015981.4(CAMK2A):c.1379C>T (p.Ser460Leu)	CAMK2A (S449L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985761	NM_015981.4(CAMK2A):c.1363C>A (p.Pro455Thr)	CAMK2A (P444T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655917	NM_015981.4(CAMK2A):c.1351G>A (p.Ala451Thr)	CAMK2A (A440T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333797	NM_015981.4(CAMK2A):c.1333A>G (p.Ile445Val)	CAMK2A (I434V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655918	NM_015981.4(CAMK2A):c.1331G>A (p.Arg444His)	CAMK2A (R433H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3136787	NM_015981.4(CAMK2A):c.1330C>T (p.Arg444Cys)	CAMK2A (R433C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1012531	NM_015981.4(CAMK2A):c.1320C>T (p.Ile440=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1012532	NM_015981.4(CAMK2A):c.1306G>A (p.Glu436Lys)	CAMK2A (E425K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 794576	NM_015981.4(CAMK2A):c.1305C>T (p.Asp435=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 870767	NM_015981.4(CAMK2A):c.1302C>T (p.Gly434=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2503188	NM_015981.4(CAMK2A):c.1238-1G>C	CAMK2A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 975358	NM_015981.4(CAMK2A):c.1238-4C>A	CAMK2A	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
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 430919	NM_015981.4(CAMK2A):c.1237+1G>A	CAMK2A	Single nucleotide variant (splice donor variant)	Intellectual disability	GPathogenic
Select item 2539624	NM_015981.4(CAMK2A):c.1235A>C (p.Asn412Thr)	CAMK2A (N401T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1299006	NM_015981.4(CAMK2A):c.1191G>A (p.Gly397=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627361	NM_015981.4(CAMK2A):c.1142+17C>A	CAMK2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3136786	NM_015981.4(CAMK2A):c.1066+4G>T	CAMK2A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1705157	NM_015981.4(CAMK2A):c.1060A>G (p.Thr354Ala)	CAMK2A (T343A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655919	NM_015981.4(CAMK2A):c.1047C>T (p.Ile349=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420622	NM_015981.4(CAMK2A):c.1029G>C (p.Glu343Asp)	CAMK2A (E332D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879635	NM_015981.4(CAMK2A):c.1017+1G>A	CAMK2A	Single nucleotide variant (intron variant +1 more)	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 2326072	NM_015981.4(CAMK2A):c.984+3A>G	CAMK2A	Single nucleotide variant (intron variant)	Inborn genetic diseases	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 2279545	NM_015981.4(CAMK2A):c.943+4G>T	CAMK2A	Single nucleotide variant (intron variant)	Inborn genetic diseases	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)	CAMK2A-related condition +1 more	GUncertain significance
Select item 1012533	NM_015981.4(CAMK2A):c.918G>A (p.Thr306=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	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
Select item 1722922	NM_015981.4(CAMK2A):c.901G>A (p.Gly301Arg)	CAMK2A (G301R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2571234	NM_015981.4(CAMK2A):c.901-7C>T	CAMK2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 2438786	NM_015981.4(CAMK2A):c.851_857delinsTGCATG (p.Gln284fs)	CAMK2A (Q284fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
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 560173	NM_015981.4(CAMK2A):c.817-1G>A	CAMK2A	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 53	GPathogenic
Select item 1327319	NM_015981.4(CAMK2A):c.816G>A (p.Ser272=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided +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 1700224	NM_015981.4(CAMK2A):c.785_790del (p.Ala262_Ala263del)	CAMK2A	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 53	GLikely pathogenic
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 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 3036275	NM_015981.4(CAMK2A):c.726G>A (p.Pro242=)	CAMK2A	Single nucleotide variant (synonymous variant)	CAMK2A-related condition	GLikely benign
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 218729	NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu)	CAMK2A (P235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655920	NM_015981.4(CAMK2A):c.702G>A (p.Ser234=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2439700	NM_015981.4(CAMK2A):c.691G>T (p.Asp231Tyr)	CAMK2A (D231Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655921	NM_015981.4(CAMK2A):c.684C>T (p.Gly228=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655922	NM_015981.4(CAMK2A):c.681C>T (p.Ala227=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 430915	NM_015981.4(CAMK2A):c.598+2dup	CAMK2A	Duplication (splice donor variant)	Intellectual disability	GLikely pathogenic
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 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 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 932398	NM_015981.4(CAMK2A):c.502C>T (p.Gln168Ter)	CAMK2A (Q168*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1176494	NM_015981.4(CAMK2A):c.450C>G (p.Ala150=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2439702	NM_015981.4(CAMK2A):c.411+1G>C	CAMK2A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2655923	NM_015981.4(CAMK2A):c.330G>A (p.Ala110=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 430913	NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp)	CAMK2A (E109D)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic
Select item 3052570	NM_015981.4(CAMK2A):c.312G>C (p.Arg104=)	CAMK2A	Single nucleotide variant (synonymous variant)	CAMK2A-related condition	GLikely benign
Select item 734965	NM_015981.4(CAMK2A):c.312G>A (p.Arg104=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2577122	NM_015981.4(CAMK2A):c.273-6C>T	CAMK2A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 1342475	NM_015981.4(CAMK2A):c.270C>T (p.Asp90=)	CAMK2A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 53	GUncertain significance

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