Full data view for gene PTPRJ

Information The variants shown are described using the NM_002843.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.47G>A r.(?) p.(Gly16Glu) Both (homozygous) - VUS g.48002511G>A g.47980959G>A - - PTPRJ_000001 - PubMed: Casey 2014 - - Unknown - - - - - DNA arraySNP, SEQ, SEQ-NG-I - - CILD - PubMed: Casey 2014 2-generation family, 1 affected, unaffected heterozygous carrier mother M yes Ireland Irish Traveller - - - - 1 Johan den Dunnen
-?/. - c.83_85del r.(?) p.(Leu28del) Unknown - likely benign g.48002547_48002549del g.47980995_47980997del PTPRJ(NM_002843.4):c.83_85delTGC (p.L28del) - PTPRJ_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.96+10G>A r.(=) p.(=) Unknown - likely benign g.48002570G>A g.47981018G>A PTPRJ(NM_002843.4):c.96+10G>A - PTPRJ_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115+9C>T r.(=) p.(=) Unknown - likely benign g.48131637C>T g.48110085C>T PTPRJ(NM_002843.4):c.115+9C>T - PTPRJ_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282T>C r.(?) p.(Asp94=) Unknown - likely benign g.48134465T>C g.48112913T>C PTPRJ(NM_002843.4):c.282T>C (p.D94=) - PTPRJ_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282T>C r.(?) p.(Asp94=) Unknown - likely benign g.48134465T>C - PTPRJ(NM_002843.4):c.282T>C (p.D94=) - PTPRJ_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.827A>C r.(?) p.(Gln276Pro) Unknown - benign g.48145375A>C g.48123823A>C PTPRJ(NM_002843.4):c.827A>C (p.Q276P) - PTPRJ_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.827A>C r.(?) p.(Gln276Pro) Unknown - benign g.48145375A>C - PTPRJ(NM_002843.4):c.827A>C (p.Q276P) - PTPRJ_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.977G>A r.(?) p.(Arg326Gln) Unknown - benign g.48146622G>A g.48125070G>A PTPRJ(NM_002843.4):c.977G>A (p.R326Q) - PTPRJ_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033G>A r.(?) p.(Val345Ile) Unknown - likely benign g.48146678G>A g.48125126G>A PTPRJ(NM_002843.3):c.1033G>A (p.V345I) - PTPRJ_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1114G>A r.(?) p.(Val372Ile) Unknown - benign g.48149352G>A g.48127800G>A PTPRJ(NM_002843.4):c.1114G>A (p.V372I) - PTPRJ_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1191T>A r.(?) p.(Tyr397*) Unknown - VUS g.48149429T>A g.48127877T>A - - PTPRJ_000017 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
-?/. - c.1240G>A r.(?) p.(Val414Ile) Unknown - likely benign g.48149478G>A g.48127926G>A PTPRJ(NM_002843.4):c.1240G>A (p.V414I) - PTPRJ_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1253G>A r.(?) p.(Arg418His) Unknown - benign g.48149491G>A g.48127939G>A PTPRJ(NM_002843.4):c.1253G>A (p.R418H) - PTPRJ_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1334C>T r.(?) p.(Pro445Leu) Unknown - benign g.48149572C>T g.48128020C>T PTPRJ(NM_002843.4):c.1334C>T (p.P445L) - PTPRJ_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1334C>T r.(?) p.(Pro445Leu) Unknown - benign g.48149572C>T - PTPRJ(NM_002843.4):c.1334C>T (p.P445L) - PTPRJ_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1352A>G r.(?) p.(His451Arg) Unknown - benign g.48149590A>G g.48128038A>G PTPRJ(NM_002843.4):c.1352A>G (p.H451R) - PTPRJ_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1352A>G r.(?) p.(His451Arg) Unknown - benign g.48149590A>G - PTPRJ(NM_002843.4):c.1352A>G (p.H451R) - PTPRJ_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1357+1G>A r.spl? p.? Unknown - likely pathogenic g.48149596G>A - PTPRJ(NM_002843.3):c.1357+1G>A - PTPRJ_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1532C>T r.(?) p.(Pro511Leu) Unknown - VUS g.48152185C>T g.48130633C>T PTPRJ(NM_002843.4):c.1532C>T (p.P511L) - PTPRJ_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1641C>T r.(?) p.(=) Unknown - likely benign g.48157616C>T - PTPRJ(NM_002843.4):c.1641C>T (p.H547=) - PTPRJ_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1873+1G>A r.spl? p.? Unknown - likely pathogenic g.48157849G>A g.48136297G>A NM_002843.3(PTPRJ):c.1873+1G>A r.spl p.? - PTPRJ_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-772A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.1874-10dup r.(=) p.(=) Unknown - likely benign g.48158545dup g.48136993dup PTPRJ(NM_002843.4):c.1874-10dupT - PTPRJ_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1905T>A r.(?) p.(Ser635Arg) Unknown - benign g.48158586T>A g.48137034T>A PTPRJ(NM_002843.4):c.1905T>A (p.S635R) - PTPRJ_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1968C>T r.(?) p.(Ser656=) Unknown - likely benign g.48158649C>T g.48137097C>T PTPRJ(NM_002843.3):c.1968C>T (p.S656=) - PTPRJ_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2073A>G r.(?) p.(Ser691=) Unknown - likely benign g.48158754A>G g.48137202A>G PTPRJ(NM_002843.3):c.2073A>G (p.S691=) - PTPRJ_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2152+16A>G r.(=) p.(=) Unknown - benign g.48158849A>G g.48137297A>G PTPRJ(NM_002843.4):c.2152+16A>G - PTPRJ_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2164A>G r.(?) p.(Met722Val) Unknown - likely benign g.48161049A>G g.48139497A>G PTPRJ(NM_002843.3):c.2164A>G (p.M722V) - PTPRJ_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2241T>G r.(?) p.(Asn747Lys) Unknown - VUS g.48161126T>G - PTPRJ(NM_002843.4):c.2241T>G (p.N747K) - PTPRJ_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2876G>A r.(?) p.(Arg959His) Unknown - likely benign g.48166641G>A g.48145089G>A PTPRJ(NM_002843.3):c.2876G>A (p.R959H), PTPRJ(NM_002843.4):c.2876G>A (p.R959H) - PTPRJ_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2876G>A r.(?) p.(Arg959His) Unknown - likely benign g.48166641G>A g.48145089G>A PTPRJ(NM_002843.3):c.2876G>A (p.R959H), PTPRJ(NM_002843.4):c.2876G>A (p.R959H) - PTPRJ_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3000-7A>G r.(=) p.(=) Unknown - likely benign g.48170992A>G g.48149440A>G PTPRJ(NM_002843.3):c.3000-7A>G - PTPRJ_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3042-6A>G r.(=) p.(=) Unknown - likely benign g.48171536A>G - PTPRJ(NM_002843.4):c.3042-6A>G - PTPRJ_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3230-4A>G r.spl? p.? Unknown - likely benign g.48177349A>G g.48155797A>G PTPRJ(NM_002843.4):c.3230-4A>G - PTPRJ_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3234T>G r.(?) p.(Asp1078Glu) Unknown - VUS g.48177357T>G - PTPRJ(NM_002843.3):c.3234T>G (p.(Asp1078Glu)) - PTPRJ_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3575G>A r.(?) p.(Ser1192Asn) Unknown - VUS g.48185026G>A g.48163474G>A PTPRJ(NM_002843.4):c.3575G>A (p.S1192N) - PTPRJ_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3704T>C r.(?) p.(Ile1235Thr) Unknown - benign g.48185155T>C g.48163603T>C PTPRJ(NM_002843.4):c.3704T>C (p.I1235T) - PTPRJ_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4008C>A r.(?) p.(Ile1336=) Unknown - benign g.48188908C>A g.48167356C>A PTPRJ(NM_002843.4):c.4008C>A (p.I1336=) - PTPRJ_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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