Full data view for gene OSGEP

Information The variants shown are described using the NM_017807.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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     
+?/. 1 c.1A>T r.(?) p.(Met1?) Parent #1 - likely pathogenic (recessive) g.20922842T>A g.20454683T>A - - OSGEP_000025 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B80 PubMed: Braun 2017 - M no - white;Hispanic 19m - - - 1 Johan den Dunnen
?/. - c.40A>T r.(?) p.(Ile14Phe) Both (homozygous) - VUS g.20922803T>A g.20454644T>A - - OSGEP_000004 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. 1 c.40A>T r.(?) p.(Ile14Phe) Both (homozygous) - likely pathogenic (recessive) g.20922803T>A g.20454644T>A - - OSGEP_000004 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B50 PubMed: Braun 2017 - F yes Iran white 2y6m - - - 1 Johan den Dunnen
+?/. 1 c.40A>T r.(?) p.(Ile14Phe) Both (homozygous) - likely pathogenic (recessive) g.20922803T>A g.20454644T>A - - OSGEP_000004 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B57 PubMed: Braun 2017 - M yes - Iran;white;Iraq;Kurdish 2y1m - - - 1 Johan den Dunnen
?/. - c.212T>C r.(?) p.(Ile71Thr) Unknown - VUS g.20920511A>G - OSGEP(NM_017807.4):c.212T>C (p.I71T) - APEX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.232A>G r.(?) p.(Lys78Glu) Maternal (confirmed) - likely pathogenic (recessive) g.20920491T>C g.20452332T>C - - OSGEP_000024 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B1504 PubMed: Braun 2017 - M no - Hispanic - - - - 1 Johan den Dunnen
+?/. 3 c.236-2del r.spl p.? Maternal (confirmed) - likely pathogenic (recessive) g.20920310del g.20452151del c.236-2delA - OSGEP_000023 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS N3741 PubMed: Braun 2017 family, affected brother/sister (F, M) M no Jordan - 6m - - - 2 Johan den Dunnen
?/. - c.251C>T r.(?) p.(Ala84Val) Unknown - VUS g.20920293G>A g.20452134G>A - - OSGEP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.319G>A r.(?) p.(Val107Met) Both (homozygous) - likely pathogenic (recessive) g.20920225C>T g.20452066C>T - - OSGEP_000022 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS DS PubMed: Braun 2017 - M no - Europe 2m15d - - - 1 Johan den Dunnen
+/. - c.328T>C r.(?) p.(Cys110Arg) Unknown - pathogenic g.20920216A>G g.20452057A>G OSGEP(NM_017807.4):c.328T>C (p.C110R) - OSGEP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.328T>C r.(?) p.(Cys110Arg) Unknown - likely pathogenic g.20920216A>G - OSGEP(NM_017807.4):c.328T>C (p.C110R) - OSGEP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.328T>C r.(?) p.(Cys110Arg) Unknown - likely pathogenic g.20920216A>G - OSGEP(NM_017807.4):c.328T>C (p.C110R) - OSGEP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.328T>C r.(?) p.(Cys110Arg) Parent #1 - likely pathogenic (recessive) g.20920216A>G g.20452057A>G - - OSGEP_000002 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B69 PubMed: Braun 2017 family, 2 affected sibs M no - white - - - - 2 Johan den Dunnen
+?/. 3 c.328T>C r.(?) p.(Cys110Arg) Parent #1 - likely pathogenic (recessive) g.20920216A>G g.20452057A>G - - OSGEP_000002 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B70 PubMed: Braun 2017 sib M no - white - - - - 1 Johan den Dunnen
+?/. 3 c.328T>C r.(?) p.(Cys110Arg) Paternal (confirmed) - likely pathogenic (recessive) g.20920216A>G g.20452057A>G - - OSGEP_000002 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B83 PubMed: Braun 2017 - F no Netherlands - 1m15d - - - 1 Johan den Dunnen
+?/. 3 c.328T>C r.(?) p.(Cys110Arg) Parent #1 - likely pathogenic (recessive) g.20920216A>G g.20452057A>G - - OSGEP_000002 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS KW-21 PubMed: Braun 2017 - F no United States - 2y6m - - - 1 Johan den Dunnen
+?/. 3 c.328T>C r.(?) p.(Cys110Arg) Parent #1 - likely pathogenic (recessive) g.20920216A>G g.20452057A>G - - OSGEP_000002 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS KW-22 PubMed: Braun 2017 - M no United States - - - - - 1 Johan den Dunnen
+?/. 3 c.328T>C r.(?) p.(Cys110Arg) Paternal (inferred) - likely pathogenic (recessive) g.20920216A>G g.20452057A>G - - OSGEP_000002 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B87 PubMed: Braun 2017 - F no United States - - - - - 1 Johan den Dunnen
+/. - c.332T>C r.(?) p.(Ile111Thr) Unknown - pathogenic g.20920212A>G g.20452053A>G OSGEP(NM_017807.4):c.332T>C (p.I111T) - APEX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.332T>C r.(?) p.(Ile111Thr) Unknown - pathogenic g.20920212A>G g.20452053A>G OSGEP(NM_017807.4):c.332T>C (p.I111T) - APEX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.332T>C r.(?) p.(Ile111Thr) Unknown - likely pathogenic g.20920212A>G - OSGEP(NM_017807.4):c.332T>C (p.I111T) - APEX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.332T>C r.(?) p.(Ile111Thr) Maternal (confirmed) - likely pathogenic (recessive) g.20920212A>G g.20452053A>G - - APEX1_000001 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B83 PubMed: Braun 2017 - F no Netherlands - 1m15d - - - 1 Johan den Dunnen
+?/. 3i c.411+12_411+22delinsTAAATAGAG r.spl? p.(?) Maternal (confirmed) - likely pathogenic (recessive) g.20920111_20920121delinsCTCTATTTA g.20451952_20451962delinsCTCTATTTA c.411+12_411+22delins9 - OSGEP_000021 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B84 PubMed: Braun 2017 family, 2 affected F no Taiwan China 1y9m - - - 2 Johan den Dunnen
-/. - c.412-17T>A r.(=) p.(=) Unknown - benign g.20917442A>T g.20449283A>T OSGEP(NM_017807.4):c.412-17T>A - OSGEP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.416T>C r.(?) p.(Ile139Thr) Both (homozygous) - likely pathogenic (recessive) g.20917421A>G g.20449262A>G - - OSGEP_000020 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS PN553-21 PubMed: Braun 2017 family, 2 affected sibs M yes Turkey - - - - - 2 Johan den Dunnen
+?/. 4 c.416T>C r.(?) p.(Ile139Thr) Both (homozygous) - likely pathogenic (recessive) g.20917421A>G g.20449262A>G - - OSGEP_000020 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS PN553-22 PubMed: Braun 2017 sib F yes Turkey - - - - - 1 Johan den Dunnen
+?/. 5 c.530G>C r.(?) p.(Gly177Ala) Parent #2 - likely pathogenic (recessive) g.20917150C>G g.20448991C>G - - OSGEP_000019 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS KW-21 PubMed: Braun 2017 - F no United States - 2y6m - - - 1 Johan den Dunnen
+?/. 5 c.530G>C r.(?) p.(Gly177Ala) Parent #2 - likely pathogenic (recessive) g.20917150C>G g.20448991C>G - - OSGEP_000019 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS KW-22 PubMed: Braun 2017 - M no United States - - - - - 1 Johan den Dunnen
-/. - c.558-17C>T r.(=) p.(=) Unknown - benign g.20916987G>A g.20448828G>A OSGEP(NM_017807.4):c.558-17C>T - OSGEP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.570A>G r.(?) p.(Leu190=) Unknown - benign g.20916958T>C g.20448799T>C OSGEP(NM_017807.4):c.570A>G (p.L190=) - OSGEP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.593A>G r.(?) p.(Lys198Arg) Paternal (inferred) - likely pathogenic (recessive) g.20916935T>C g.20448776T>C - - OSGEP_000018 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS A3729 PubMed: Braun 2017 - F no - Asia 2y - - - 1 Johan den Dunnen
-/. - c.702+16A>G r.(=) p.(=) Unknown - benign g.20916249T>C g.20448090T>C OSGEP(NM_017807.4):c.702+16A>G - OSGEP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719T>C r.(?) p.(Met240Thr) Unknown - VUS g.20916137A>G - OSGEP(NM_017807.4):c.719T>C (p.(Met240Thr)) - OSGEP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - pathogenic (recessive) g.62073835G>A g.63442482G>A - - OSGEP_000010 - PubMed: Hong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat6 PubMed: Hong 2020 - M - Taiwan - - - - - 1 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B377 PubMed: Braun 2017 family, 2 affected, brother died 12d M no China - 3m - - - 2 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B58 PubMed: Braun 2017 - M no Taiwan China 3m - - - 1 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS 15M1869 PubMed: Braun 2017 - F no Taiwan China 3m - - - 1 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS 15M1870 PubMed: Braun 2017 - M no Taiwan China 98d - - - 1 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS 15M2114 PubMed: Braun 2017 - M no Taiwan China 6m - - - 1 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS 15M2118 PubMed: Braun 2017 - M no Taiwan China 5m - - - 1 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS 15M2121 PubMed: Braun 2017 - F no Taiwan China 5m - - - 1 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B63 PubMed: Braun 2017 family, 2 affected sibs M no Taiwan China 5m - - - 2 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS 15M2113 PubMed: Braun 2017 sib F no Taiwan China 3m - - - 1 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Both (homozygous) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS DC PubMed: Braun 2017 - F no Viet Nam;Thailand - 2m15d - - - 1 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Paternal (confirmed) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B84 PubMed: Braun 2017 family, 2 affected F no Taiwan China 1y9m - - - 2 Johan den Dunnen
+?/. 8 c.740G>A r.(?) p.(Arg247Gln) Maternal (confirmed) - likely pathogenic (recessive) g.20916116C>T g.20447957C>T - - OSGEP_000010 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS A3729 PubMed: Braun 2017 - F no - Asia 2y - - - 1 Johan den Dunnen
-?/. - c.741A>G r.(?) p.(=) Unknown - likely benign g.20916115T>C - OSGEP(NM_017807.4):c.741A>G (p.R247=) - OSGEP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.838C>T r.(?) p.(Arg280Cys) Maternal (confirmed) - likely pathogenic (recessive) g.20915805G>A g.20447646G>A - - OSGEP_000017 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B87 PubMed: Braun 2017 - F no United States - - - - - 1 Johan den Dunnen
+?/. 9 c.839G>A r.(?) p.(Arg280His) Maternal (confirmed) - likely pathogenic (recessive) g.20915804C>T g.20447645C>T - - OSGEP_000015 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS N2705 PubMed: Braun 2017 family, 2 affected M no - Afro- Caribbean - - - - 2 Johan den Dunnen
+?/. 9 c.839G>T r.(?) p.(Arg280Leu) Parent #2 - likely pathogenic (recessive) g.20915804C>A g.20447645C>A - - OSGEP_000016 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B80 PubMed: Braun 2017 - M no - white;Hispanic 19m - - - 1 Johan den Dunnen
-?/. - c.869+12_869+13del r.(=) p.(=) Unknown - likely benign g.20915762_20915763del - OSGEP(NM_017807.4):c.869+12_869+13delTT - OSGEP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870-12_870-11del r.(=) p.(=) Unknown - likely benign g.20915695_20915696del - OSGEP(NM_017807.4):c.870-12_870-11delCT - OSGEP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.968+16C>G r.(=) p.(=) Unknown - likely benign g.20915565G>C - OSGEP(NM_017807.4):c.968+16C>G - OSGEP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.973C>T r.(?) p.(Arg325Trp) Paternal (confirmed) - likely pathogenic (recessive) g.20915434G>A g.20447275G>A - - OSGEP_000014 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B1504 PubMed: Braun 2017 - M no - Hispanic - - - - 1 Johan den Dunnen
+/. 11 c.974G>A r.(974c>u) p.(Arg325Gln) Both (homozygous) - pathogenic g.20915433C>T g.20447274C>T - - OSGEP_000001 - - - - Germline yes - - - - DNA SEQ-NG-I blood - DD - - - F yes Palestine - 06y - yes - 1 Asaf Ta-Shma
+?/. 11 c.974G>A r.(?) p.(Arg325Gln) Both (homozygous) - likely pathogenic (recessive) g.20915433C>T g.20447274C>T - - OSGEP_000001 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS CP PubMed: Braun 2017 - F no - American Indian - - - - 1 Johan den Dunnen
+?/. 11 c.974G>A r.(?) p.(Arg325Gln) Paternal (confirmed) - likely pathogenic (recessive) g.20915433C>T g.20447274C>T - - OSGEP_000001 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS N2705 PubMed: Braun 2017 family, 2 affected M no - Afro- Caribbean - - - - 2 Johan den Dunnen
+?/. 11 c.974G>A r.(?) p.(Arg325Gln) Parent #2 - likely pathogenic (recessive) g.20915433C>T g.20447274C>T - - OSGEP_000001 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B69 PubMed: Braun 2017 family, 2 affected sibs M no - white - - - - 2 Johan den Dunnen
+?/. 11 c.974G>A r.(?) p.(Arg325Gln) Parent #2 - likely pathogenic (recessive) g.20915433C>T g.20447274C>T - - OSGEP_000001 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS B70 PubMed: Braun 2017 sib M no - white - - - - 1 Johan den Dunnen
+?/. 11 c.974G>A r.(?) p.(Arg325Gln) Paternal (confirmed) - likely pathogenic (recessive) g.20915433C>T g.20447274C>T - - OSGEP_000001 - PubMed: Braun 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHS N3741 PubMed: Braun 2017 family, affected brother/sister (F, M) M no Jordan - 6m - - - 2 Johan den Dunnen
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