CAMK4[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 more	Copy number loss	See cases	GPathogenic
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 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 153508	GRCh38/hg38 5q22.1(chr5:110469276-111738442)x1	CAMK4, LOC126807474 +32 more	Copy number loss	See cases	GUncertain significance
Select item 59447	GRCh38/hg38 5q22.1(chr5:110564896-111731572)x3	CAMK4, LOC126807474 +31 more	Copy number gain	See cases	GUncertain significance
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 2249231	NM_001744.6(CAMK4):c.38C>G (p.Ser13Cys)	CAMK4 (S13C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621945	NM_001744.6(CAMK4):c.62C>T (p.Ala21Val)	CAMK4 (A21V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3263017	NM_001744.6(CAMK4):c.73A>G (p.Thr25Ala)	CAMK4 (T25A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2487278	NM_001744.6(CAMK4):c.89C>G (p.Pro30Arg)	CAMK4 (P30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236612	NM_001744.6(CAMK4):c.121G>T (p.Ala41Ser)	CAMK4, LOC129994350 (A41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3367593	NM_001744.6(CAMK4):c.145G>A (p.Glu49Lys)	CAMK4 (E49K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2251706	NM_001744.6(CAMK4):c.160C>T (p.Arg54Trp)	CAMK4 (R54W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 144884	GRCh38/hg38 5q22.1(chr5:111240313-111317511)x1	CAMK4, LOC129994354 +5 more	Copy number loss	See cases	GBenign
Select item 3368120	NM_001744.6(CAMK4):c.188G>A (p.Cys63Tyr)	CAMK4 (C63Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655632	NM_001744.6(CAMK4):c.275TTC[2] (p.Leu94del)	CAMK4 (L94del)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2688711	NM_001744.6(CAMK4):c.303+2T>C	CAMK4	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2525200	NM_001744.6(CAMK4):c.319A>G (p.Ile107Val)	CAMK4 (I107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3369915	NM_001744.6(CAMK4):c.415C>T (p.Arg139Ter)	CAMK4 (R139*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2238925	NM_001744.6(CAMK4):c.416G>A (p.Arg139Gln)	CAMK4 (R139Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263014	NM_001744.6(CAMK4):c.530C>T (p.Pro177Leu)	CAMK4 (P177L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729717	NM_001744.6(CAMK4):c.532G>A (p.Asp178Asn)	CAMK4 (D178N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1879629	NM_001744.6(CAMK4):c.625+4T>G	CAMK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 2589881	NM_001744.6(CAMK4):c.670A>G (p.Met224Val)	CAMK4 (M224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291322	NM_001744.6(CAMK4):c.692C>G (p.Thr231Ser)	CAMK4 (T231S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366328	NM_001744.6(CAMK4):c.804A>T (p.Glu268Asp)	CAMK4 (E71D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368305	NM_001744.6(CAMK4):c.821A>G (p.Lys274Arg)	CAMK4 (K77R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801165	NM_001744.6(CAMK4):c.850G>A (p.Asp284Asn)	CAMK4 (D284N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507053	NM_001744.6(CAMK4):c.929T>C (p.Met310Thr)	CAMK4 (M113T +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 932178	NM_001744.6(CAMK4):c.940C>T (p.Gln314Ter)	CAMK4 (Q117* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 2468525	NM_001744.6(CAMK4):c.973A>G (p.Lys325Glu)	CAMK4 (K128E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560302	NM_001744.6(CAMK4):c.981+1G>A	CAMK4	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2490124	NM_001744.6(CAMK4):c.1069C>G (p.Arg357Gly)	CAMK4 (R357G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136798	NM_001744.6(CAMK4):c.1102G>A (p.Asp368Asn)	CAMK4 (D171N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136799	NM_001744.6(CAMK4):c.1114A>G (p.Ile372Val)	CAMK4 (I372V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136800	NM_001744.6(CAMK4):c.1166G>T (p.Gly389Val)	CAMK4 (G192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376630	NM_001744.6(CAMK4):c.1225A>G (p.Asn409Asp)	CAMK4 (N212D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620038	NM_001744.6(CAMK4):c.1236G>C (p.Glu412Asp)	CAMK4 (E215D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263016	NM_001744.6(CAMK4):c.1241C>G (p.Pro414Arg)	CAMK4 (P414R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136801	NM_001744.6(CAMK4):c.1327A>G (p.Thr443Ala)	CAMK4 (T443A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783442	NM_001744.6(CAMK4):c.1374T>G (p.Ala458=)	CAMK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776053	NM_001744.6(CAMK4):c.1394A>G (p.Gln465Arg)	CAMK4 (Q465R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2671613	Single allele	CAMK4, EFNA5 +11 more	Deletion	not provided	GUncertain significance
Select item 2499479	GRCh37/hg19 5q21.3-22.1(chr5:108634380-110629961)x3	CAMK4, MAN2A1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 1809187	GRCh37/hg19 5q22.1(chr5:110509287-110575583)x1	CAMK4	Copy number loss	not provided	GUncertain significance
Select item 1808130	GRCh37/hg19 5q22.1(chr5:109786744-110813071)x1	CAMK4, SLC25A46 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1703562	GRCh37/hg19 5q22.1(chr5:110567597-110693274)	CAMK4	Copy number gain	Severe combined immunodeficiency disease	GUncertain significance
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 980177	GRCh37/hg19 5q22.1(chr5:110338499-110668272)x3	TSLP, WDR36 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814723	GRCh37/hg19 5q22.1(chr5:110660886-110733173)x1	CAMK4	Copy number loss	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 685412	GRCh37/hg19 5q22.1(chr5:110660888-110753799)x1	CAMK4	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563100	GRCh37/hg19 5q22.1(chr5:110234471-110761241)x3	CAMK4, TSLP +1 more	Copy number gain	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442882	GRCh37/hg19 5q21.3-22.1(chr5:108604653-110636716)x4	CAMK4, MAN2A1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442744	GRCh37/hg19 5q21.3-22.1(chr5:109146807-111474789)x4	CAMK4, MAN2A1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253705	GRCh37/hg19 5q21.3-22.1(chr5:109438167-110644401)x3	WDR36, CAMK4 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3361146	NM_001744.6(CAMK4):c.971G>A (p.Arg324His)	CAMK4 (R127H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360707	NM_001744.6(CAMK4):c.536C>T (p.Ala179Val)	CAMK4 (A179V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 79