CAMK1[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 150505	GRCh38/hg38 3p25.3(chr3:9142303-9793982)x3	ARPC4, ARPC4-TTLL3 +40 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	LOC401052, MTMR14 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 2211918	NM_003656.5(CAMK1):c.1073C>T (p.Pro358Leu)	CAMK1, OGG1 (P358L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405031	NM_003656.5(CAMK1):c.1034C>T (p.Pro345Leu)	CAMK1, OGG1 (P345L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340971	NM_003656.5(CAMK1):c.992C>T (p.Thr331Met)	CAMK1, OGG1 (T331M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480764	NM_003656.5(CAMK1):c.946A>G (p.Met316Val)	CAMK1, OGG1 (M316V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263001	NM_003656.5(CAMK1):c.861C>G (p.His287Gln)	CAMK1, OGG1 (H287Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136771	NM_003656.5(CAMK1):c.827T>C (p.Ile276Thr)	CAMK1, OGG1 (I276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220142	NM_003656.5(CAMK1):c.794T>C (p.Phe265Ser)	CAMK1, OGG1 (F265S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484303	NM_003656.5(CAMK1):c.683A>C (p.Glu228Ala)	CAMK1, OGG1 (E228A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395752	NM_003656.5(CAMK1):c.564A>C (p.Glu188Asp)	CAMK1, OGG1 (E188D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620688	NM_003656.5(CAMK1):c.451A>G (p.Ser151Gly)	CAMK1, OGG1 (S151G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262999	NM_003656.5(CAMK1):c.418C>T (p.Arg140Trp)	CAMK1, OGG1 (R140W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622713	NM_003656.5(CAMK1):c.417C>G (p.His139Gln)	CAMK1, OGG1 (H139Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309873	NM_003656.5(CAMK1):c.356G>C (p.Ser119Thr)	CAMK1, OGG1 (S119T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136770	NM_003656.5(CAMK1):c.274T>C (p.Tyr92His)	CAMK1, OGG1 (Y92H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621039	NM_003656.5(CAMK1):c.256G>A (p.Glu86Lys)	CAMK1, OGG1 (E86K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350408	NM_003656.5(CAMK1):c.245A>G (p.Asp82Gly)	CAMK1, OGG1 (D82G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653501	NM_003656.5(CAMK1):c.234T>C (p.Ile78=)	CAMK1, OGG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3136769	NM_003656.5(CAMK1):c.116A>G (p.Asp39Gly)	OGG1, CAMK1 (I266T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653502	NM_016827.3(OGG1):c.*48G>A	CAMK1, OGG1 (E290K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 522323	NM_016821.3(OGG1):c.1043G>A (p.Gly348Glu)	CAMK1, OGG1 (G348E +2 more)	Single nucleotide variant (missense variant +2 more)	Nonpapillary renal cell carcinoma	GLikely benign
Select item 3049965	NM_016821.3(OGG1):c.1075C>T (p.Leu359Phe)	CAMK1, OGG1 (L292F +1 more)	Single nucleotide variant (synonymous variant +3 more)	OGG1-related disorder	GLikely benign
Select item 2248404	NM_016821.3(OGG1):c.1198G>A (p.Ala400Thr)	CAMK1, OGG1 (A333T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3263000	NM_003656.5(CAMK1):c.56T>A (p.Ile19Asn)	CAMK1, OGG1 (I19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314710	NM_003656.5(CAMK1):c.25A>G (p.Arg9Gly)	CAMK1, OGG1 (R9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1807638	GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	ARPC4, ARPC4-TTLL3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526997	GRCh37/hg19 3p25.3(chr3:9754611-10295828)	BRPF1, CAMK1 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1412633	NC_000003.11:g.(?_8775563)_(9986075_?)dup	ARPC4, ARPC4-TTLL3 +20 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1328451	GRCh37/hg19 3p25.3(chr3:9501646-9991928)x4	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 830761	NC_000003.12:g.(?_9701780)_(9944589_?)dup	ARPC4, ARPC4-TTLL3 +13 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 688108	GRCh37/hg19 3p25.3(chr3:8883205-9954034)x3	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 635955	Single allele	BRPF1, IL17RE +33 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
Select item 443508	GRCh37/hg19 3p25.3(chr3:9600759-10000398)x3	ARPC4, ARPC4-TTLL3 +14 more	Copy number gain	See cases	GLikely benign
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 395270	GRCh37/hg19 3p25.3(chr3:9666380-10028247)x1	ARPC4, ARPC4-TTLL3 +15 more	Copy number loss	See cases	GPathogenic
Select item 253614	GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	ARPC4, ARPC4-TTLL3 +39 more	Copy number loss	See cases	GPathogenic
Select item 253334	GRCh37/hg19 3p25.3(chr3:9405337-10168892)x3	MTMR14, IL17RC +21 more	Copy number gain	See cases	GLikely pathogenic

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Items: 83