Full data view for gene CAMK1

Information The variants shown are described using the NM_003656.4 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.84-159T>G r.(=) p.(=) Parent #1 - VUS g.9807733A>C g.9766049A>C - - CAMK1_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 6 Melissa DeRycke
./. - c.84-118G>C r.(=) p.(=) Parent #1 - VUS g.9807692C>G g.9766008C>G - - CAMK1_000003 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.84-13C>T r.(=) p.(=) Parent #1 - VUS g.9807587G>A g.9765903G>A - - CAMK1_000002 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.84-13C>T r.(=) p.(=) Unknown - likely benign g.9807587G>A g.9765903G>A OGG1(NM_016821.2):c.1043G>A (p.G348E), OGG1(NM_016821.3):c.1043G>A (p.G348E) - CAMK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84-13C>T r.(=) p.(=) Unknown - likely benign g.9807587G>A g.9765903G>A OGG1(NM_016821.2):c.1043G>A (p.G348E), OGG1(NM_016821.3):c.1043G>A (p.G348E) - CAMK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912+266G>A r.(=) p.(=) Unknown - likely benign g.9800906C>T g.9759222C>T OGG1(NM_016828.2):c.984C>T (p.L328=) - CAMK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.912+279A>G r.(=) p.(=) Parent #1 - VUS g.9800893T>C g.9759209T>C - - CAMK1_000001 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.977A>T r.(?) p.(Glu326Val) Unknown - VUS g.9799466T>A g.9757782T>A CAMK1(NM_003656.4):c.977A>T (p.(Glu326Val)) - CAMK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*748C>T r.(=) p.(=) Unknown - likely benign g.9798475G>A g.9756791G>A OGG1(NM_016821.3):c.923G>A (p.G308E) - OGG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*953G>A r.(=) p.(=) Unknown - likely benign g.9798270C>T g.9756586C>T OGG1(NM_016821.3):c.863C>T (p.A288V) - OGG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*953G>A r.(=) p.(=) Unknown - VUS g.9798270C>T g.9756586C>T OGG1(NM_016821.3):c.863C>T (p.A288V) - OGG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2715C>T r.(=) p.(=) Unknown - benign g.9796508G>A g.9754824G>A OGG1(NM_016821.3):c.686G>A (p.R229Q) - OGG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2812T>A r.(=) p.(=) Unknown - VUS g.9796411A>T g.9754727A>T OGG1(NM_016821.3):c.589A>T (p.R197W) - OGG1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2839C>T r.(=) p.(=) Unknown - benign g.9796384G>A g.9754700G>A OGG1(NM_016821.3):c.566-4G>A - OGG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5694C>T r.(=) p.(=) Unknown - VUS g.9793529G>A g.9751845G>A OGG1(NM_016821.3):c.461G>A (p.R154H) - OGG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5699G>T r.(=) p.(=) Unknown - VUS g.9793524C>A - OGG1(NM_002542.6):c.456C>A (p.(Ile152=)) - BRPF1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6442C>T r.(=) p.(=) Unknown - likely benign g.9792781G>A g.9751097G>A OGG1(NM_016821.3):c.290G>A (p.R97H) - OGG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6479C>A r.(=) p.(=) Unknown - likely benign g.9792744G>T g.9751060G>T OGG1(NM_016828.2):c.253G>T (p.A85S) - OGG1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6492T>C r.(=) p.(=) Unknown - likely benign g.9792731A>G - OGG1(NM_016828.2):c.240A>G (p.G80=) - BRPF1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6580C>G r.(=) p.(=) Unknown - likely benign g.9792643G>C - OGG1(NM_016828.2):c.152G>C (p.S51T) - BRPF1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7116C>T r.(=) p.(=) Unknown - VUS g.9792107G>A g.9750423G>A OGG1(NM_016828.2):c.137G>A (p.R46Q), OGG1(NM_016828.3):c.137G>A (p.R46Q) - OGG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7116C>T r.(=) p.(=) Unknown - VUS g.9792107G>A - OGG1(NM_016828.2):c.137G>A (p.R46Q), OGG1(NM_016828.3):c.137G>A (p.R46Q) - OGG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7238C>A r.(=) p.(=) Unknown - likely benign g.9791985G>T g.9750301G>T OGG1(NM_016821.3):c.15G>T (p.A5=) - OGG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10282G>A r.(=) p.(=) Unknown - VUS g.9788941C>T - BRPF1(NM_001003694.2):c.3571C>T (p.(Arg1191Cys)) - BRPF1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10307dup r.(?) p.(=) Unknown - VUS g.9788916dup - BRPF1(NM_001003694.2):c.3546dupG (p.L1183Afs*33) - BRPF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*11149G>A r.(=) p.(=) Unknown - likely pathogenic g.9788074C>T g.9746390C>T - - BRPF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*11218G>A r.(=) p.(=) Unknown - likely pathogenic g.9788005C>T - - - BRPF1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11625G>A r.(=) p.(=) Unknown - VUS g.9787598C>T g.9745914C>T BRPF1(NM_001003694.1):c.3308C>T (p.P1103L) - BRPF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11635G>A r.(=) p.(=) Unknown - VUS g.9787588C>T g.9745904C>T BRPF1(NM_001003694.2):c.3298C>T (p.R1100*) - BRPF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*11635G>A r.(=) p.(=) Unknown - likely pathogenic g.9787588C>T - BRPF1(NM_001003694.2):c.3298C>T (p.R1100*) - BRPF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*11696G>A r.(=) p.(=) Unknown - benign g.9787527C>T g.9745843C>T BRPF1(NM_001003694.1):c.3237C>T (p.(Gly1079=)) - BRPF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11842C>T r.(=) p.(=) Unknown - VUS g.9787381G>A - BRPF1(NM_001003694.1):c.3193G>A (p.(Val1065Met)) - BRPF1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11961G>A r.(=) p.(=) Unknown - VUS g.9787262C>T - BRPF1(NM_001003694.1):c.3074C>T (p.(Thr1025Met)) - BRPF1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11970T>A r.(=) p.(=) Unknown - likely benign g.9787253A>T - BRPF1(NM_001003694.2):c.3069-4A>T - BRPF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12120A>G r.(=) p.(=) Unknown - likely benign g.9787103T>C - BRPF1(NM_001003694.2):c.3069-154T>C - BRPF1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*12470G>C r.(=) p.(=) Unknown - likely pathogenic g.9786753C>G g.9745069C>G BRPF1(NM_001003694.1):c.2982C>G (p.Y994*) - BRPF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12519T>C r.(=) p.(=) Unknown - likely benign g.9786704A>G - BRPF1(NM_001003694.2):c.2933A>G (p.(Asn978Ser)) - BRPF1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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