ClinVar for Gene (Select 815) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 146

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376446	NM_015981.4(CAMK2A):c.1142+13G>A	CAMK2A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 53	GUncertain significance
Select item 3373207	NM_015981.4(CAMK2A):c.635dup (p.Phe213fs)	CAMK2A (F213fs)	Duplication (frameshift 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 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 3370589	NM_015981.4(CAMK2A):c.1237+3G>A	CAMK2A	Single nucleotide variant (intron 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 3369760	NM_015981.4(CAMK2A):c.578dup (p.Val194fs)	CAMK2A (V194fs)	Duplication (frameshift 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 3367261	NM_015981.4(CAMK2A):c.54A>T (p.Glu18Asp)	CAMK2A (E18D)	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 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
Select item 3347289	NM_015981.4(CAMK2A):c.869T>C (p.Leu290Pro)	CAMK2A (L290P)	Single nucleotide variant (missense variant)	CAMK2A-related disorder	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 3339697	NM_015981.4(CAMK2A):c.1351G>T (p.Ala451Ser)	CAMK2A (A440S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339373	NM_015981.4(CAMK2A):c.89G>A (p.Cys30Tyr)	CAMK2A (C30Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336366	NM_015981.4(CAMK2A):c.1350C>T (p.Asp450=)	CAMK2A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3263007	NM_015981.4(CAMK2A):c.400C>T (p.Arg134Trp)	CAMK2A (R134W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263006	NM_015981.4(CAMK2A):c.62+5G>C	CAMK2A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3263005	NM_015981.4(CAMK2A):c.1387A>C (p.Thr463Pro)	CAMK2A (T452P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258078	NM_015981.4(CAMK2A):c.74C>T (p.Ser25Leu)	CAMK2A (S25L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GUncertain significance
Select item 3251933	NM_015981.4(CAMK2A):c.545C>T (p.Pro182Leu)	CAMK2A (P182L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GUncertain significance
Select item 3250942	NM_015981.4(CAMK2A):c.1238-5T>C	CAMK2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3237497	NM_015981.4(CAMK2A):c.290T>C (p.Leu97Pro)	CAMK2A (L97P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 63	GLikely pathogenic
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 3136786	NM_015981.4(CAMK2A):c.1066+4G>T	CAMK2A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3063657	NM_015981.4(CAMK2A):c.1467-7C>G	CAMK2A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3056945	NM_015981.4(CAMK2A):c.218-10C>T	CAMK2A	Single nucleotide variant (intron variant)	CAMK2A-related disorder	GLikely benign
Select item 3052570	NM_015981.4(CAMK2A):c.312G>C (p.Arg104=)	CAMK2A	Single nucleotide variant (synonymous variant)	CAMK2A-related disorder	GLikely benign
Select item 3036275	NM_015981.4(CAMK2A):c.726G>A (p.Pro242=)	CAMK2A	Single nucleotide variant (synonymous variant)	CAMK2A-related disorder	GLikely benign
Select item 3025603	NM_015981.4(CAMK2A):c.240A>C (p.Ser80=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2673034	NM_015981.4(CAMK2A):c.*44A>G	CAMK2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 2655923	NM_015981.4(CAMK2A):c.330G>A (p.Ala110=)	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 2655921	NM_015981.4(CAMK2A):c.684C>T (p.Gly228=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655920	NM_015981.4(CAMK2A):c.702G>A (p.Ser234=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655919	NM_015981.4(CAMK2A):c.1047C>T (p.Ile349=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2655916	NM_015981.4(CAMK2A):c.*17C>T	CAMK2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2655915	NM_015981.4(CAMK2A):c.*144G>C	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 2655913	NM_015981.4(CAMK2A):c.*227T>A	CAMK2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2655912	NM_015981.4(CAMK2A):c.*296G>C	CAMK2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 2627361	NM_015981.4(CAMK2A):c.1142+17C>A	CAMK2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2577122	NM_015981.4(CAMK2A):c.273-6C>T	CAMK2A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2571234	NM_015981.4(CAMK2A):c.901-7C>T	CAMK2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 2503188	NM_015981.4(CAMK2A):c.1238-1G>C	CAMK2A	Single nucleotide variant (splice acceptor 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 2501218	NC_000005.9:g.(149633110_149636135)_(149636395_149637125)del	CAMK2A	Deletion	not specified	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 2446663	NM_015981.4(CAMK2A):c.604A>G (p.Ile202Val)	CAMK2A (I202V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446228	NM_015981.4(CAMK2A):c.859_868del (p.Thr286_Val287insTer)	CAMK2A	Deletion (nonsense)	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 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 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 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 2425319	NC_000005.9:g.(?_147774340)_(149681936_?)del	ABLIM3, ADRB2 +23 more	Deletion	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 2326072	NM_015981.4(CAMK2A):c.984+3A>G	CAMK2A	Single nucleotide variant (intron variant)	Inborn genetic diseases	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 2211805	NM_015981.4(CAMK2A):c.235A>G (p.Ile79Val)	CAMK2A (I79V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 1722922	NM_015981.4(CAMK2A):c.901G>A (p.Gly301Arg)	CAMK2A (G301R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
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 1699804	NM_015981.4(CAMK2A):c.451G>A (p.Ala151Thr)	CAMK2A (A151T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1695620	NM_015981.4(CAMK2A):c.445G>A (p.Gly149Ser)	CAMK2A (G149S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683879	NM_015981.4(CAMK2A):c.598+1_598+3del	CAMK2A	Microsatellite (splice donor variant)	not provided	GUncertain significance
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 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 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 1342099	NM_015981.4(CAMK2A):c.976G>A (p.Gly326Ser)	CAMK2A (G326S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335605	NM_015981.4(CAMK2A):c.264C>T (p.Ile88=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335604	NM_015981.4(CAMK2A):c.1379C>T (p.Ser460Leu)	CAMK2A (S449L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1317016	NM_015981.4(CAMK2A):c.13A>C (p.Thr5Pro)	CAMK2A (T5P)	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 1299006	NM_015981.4(CAMK2A):c.1191G>A (p.Gly397=)	CAMK2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

<< First< Prev

Page of 2