Full data view for gene TRAPPC11

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_021942.5 transcript reference sequence.

122 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.-6G>A r.(?) p.(=) Unknown - benign g.184585015G>A g.183663862G>A TRAPPC11(NM_021942.6):c.-6G>A - TRAPPC11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6G>A r.(=) p.(=) Parent #1 - benign g.184585015G>A g.183663862G>A - - TRAPPC11_000009 45 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113604435 Germline - 45/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 45 Mohammed Faruq
+/. 25i_30_ c.2852-1810_*950{0} r.0? p.0? Unknown - pathogenic (recessive) g.184621040_184642189del g.183699887_183721036del c.2852-1810_*8392del - TRAPPC11_000059 - - - - Germline - - - - - DNA SEQ-NG - gene panel LGMDR18;LGMD2S - - - M - - - - - - - 1 Jana Zidkova
+/. - c.? r.spl? p.? Parent #2 - pathogenic g.? - NM_199053 g.27324T>A - TRAPPC11_000000 described variant unclear (NG_033102.1 not 27324T) PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH6980_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.77A>G r.(?) p.(Asp26Gly) Both (homozygous) ACMG likely pathogenic g.184585097A>G g.183663944A>G - - TRAPPC11_000034 ACMG grading: PS4, PM2, PM3, PP3; additional variants in NEB , ITGA7, POMGNT1 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat229a PubMed: Fichna 2018 - F yes Poland - - - - - 1 Johan den Dunnen
+?/. - c.77A>G r.(?) p.(Asp26Gly) Unknown - likely pathogenic g.184585097A>G g.183663944A>G - - TRAPPC11_000034 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. - c.77A>G r.(?) p.(Asp26Gly) Unknown - pathogenic (recessive) g.184585097A>G g.183663944A>G - - TRAPPC11_000034 - - - - Germline - - - - - DNA SEQ-NG - gene panel LGMDR18;LGMD2S - - - F no - - - - - - 1 Jana Zidkova
+?/. 2 c.100C>T r.(?) p.(Arg34*) Maternal (confirmed) - likely pathogenic g.184585120C>T g.183663967C>T - - TRAPPC11_000008 - - - - Germline - - - - - DNA SEQ-NG Blood Whole exome sequencing, confirmed by bi-directional fluorescent sequencing LGMDR18;LGMD2S - - - M no United Kingdom (Great Britain) Chinese - - - - 1 Nadine McCrea
+/. 2 c.142C>T r.(?) p.(Arg48*) Parent #1 - pathogenic g.184585162C>T g.183664009C>T NM_199053:c.142C>T (R48*) - TRAPPC11_000005 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH6980_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.142C>T r.(?) p.(Arg48*) Parent #1 - pathogenic (recessive) g.184585162C>T g.183664009C>T - - TRAPPC11_000005 - Bharatendu 2019, ASHG P1254 - - Germline - - - - - DNA SEQ, SEQ-NG - WES LGMD Pat Bharatendu 2019, ASHG P1254 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.145G>C r.(?) p.(Val49Leu) Unknown - likely benign g.184585165G>C g.183664012G>C TRAPPC11(NM_021942.5):c.145G>C (p.(Val49Leu)), TRAPPC11(NM_021942.6):c.145G>C (p.V49L) - TRAPPC11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145G>C r.(?) p.(Val49Leu) Unknown - likely benign g.184585165G>C g.183664012G>C TRAPPC11(NM_021942.5):c.145G>C (p.(Val49Leu)), TRAPPC11(NM_021942.6):c.145G>C (p.V49L) - TRAPPC11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219G>C r.(?) p.(Glu73Asp) Unknown - likely benign g.184587424G>C g.183666271G>C TRAPPC11(NM_021942.5):c.219G>C (p.E73D, p.(Glu73Asp)) - TRAPPC11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.219G>C r.(?) p.(Glu73Asp) Unknown - VUS g.184587424G>C g.183666271G>C TRAPPC11(NM_021942.5):c.219G>C (p.E73D, p.(Glu73Asp)) - TRAPPC11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262A>G r.(?) p.(Lys88Glu) Unknown - VUS g.184587467A>G g.183666314A>G TRAPPC11(NM_021942.5):c.262A>G (p.K88E) - TRAPPC11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.375-7A>G r.(=) p.(=) Unknown - VUS g.184588206A>G - TRAPPC11(NM_021942.5):c.375-7A>G (p.?) - TRAPPC11_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.464C>T r.(?) p.(Ser155Leu) Unknown - VUS g.184589174C>T g.183668021C>T - - TRAPPC11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.561-2395_914del r.? p.? Unknown - pathogenic (recessive) g.184593471_184600588del g.183672318_183679435del - - TRAPPC11_000055 - - - - Germline - - - - - DNA SEQ-NG - gene panel LGMDR18;LGMD2S - - - F no - - - - - - 1 Jana Zidkova
-/. - c.661-3del r.spl? p.? Unknown - benign g.184596314del g.183675161del TRAPPC11(NM_021942.6):c.661-3delT - TRAPPC11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.661-1G>T r.[661_674del, 661_674delins661+1_661+58] p.0 Maternal (confirmed) - pathogenic g.184596316G>T g.183675163G>T - - TRAPPC11_000006 - PubMed: Liang 2015, Journal: Liang 2015, OMIM:var0003 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel MD 26322222-Pat PubMed: Liang 2015, Journal: Liang 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Taiwan Han Chinese - - - - 1 Johan den Dunnen
+/. - c.713A>C r.(?) p.(Gln238Pro) Unknown - pathogenic g.184596369A>C g.183675216A>C - - TRAPPC11_000064 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat284 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
?/. - c.820A>G r.(?) p.(Ile274Val) Unknown - VUS g.184598696A>G g.183677543A>G TRAPPC11(NM_021942.5):c.820A>G (p.I274V) - TRAPPC11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832-3C>A r.spl? p.? Unknown - VUS g.184600503C>A g.183679350C>A TRAPPC11(NM_021942.5):c.832-3C>A - TRAPPC11_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.851A>C r.(?) p.(Gln284Pro) Parent #1 - likely pathogenic (recessive) g.184600525A>C - - - TRAPPC11_000052 - PubMed: Larson 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - trio WES seizures Pat1 PubMed: Larson 2018 - F - United States - - - - - 1 Johan den Dunnen
-/. - c.897C>A r.(?) p.(Ile299=) Unknown - benign g.184600571C>A g.183679418C>A TRAPPC11(NM_021942.6):c.897C>A (p.I299=) - TRAPPC11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.927A>G r.(?) p.(Ala309=) Unknown - benign g.184600601A>G g.183679448A>G TRAPPC11(NM_021942.6):c.927A>G (p.A309=) - TRAPPC11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.927A>G r.(?) p.(Ala309=) Unknown - benign g.184600601A>G g.183679448A>G TRAPPC11(NM_021942.6):c.927A>G (p.A309=) - TRAPPC11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931C>G r.(?) p.(Leu311Val) Parent #1 - VUS g.184600605C>G g.183679452C>G - - TRAPPC11_000044 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148833310 Germline - 1/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.931C>G r.(?) p.(Leu311Val) Unknown - VUS g.184600605C>G - TRAPPC11(NM_021942.5):c.931C>G (p.L311V) - TRAPPC11_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9i c.965+5G>T r.832_1053del p.Ile278_Gln351del Parent #2 - likely pathogenic (recessive) g.184600644G>T - - - TRAPPC11_000053 - PubMed: Larson 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - trio WES seizures Pat1 PubMed: Larson 2018 - F - United States - - - - - 1 Johan den Dunnen
?/. - c.1055A>G r.(?) p.(Gln352Arg) Unknown - VUS g.184601362A>G - TRAPPC11(NM_021942.6):c.1055A>G (p.Q352R) - TRAPPC11_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1141C>G r.(1141c>g) p.(Pro381Ala) Maternal (confirmed) - likely pathogenic g.184603912C>G g.183682759C>G - - TRAPPC11_000004 - submitted for publication - - Germline - - - - - DNA SEQ-NG - - CDG2 - - - M no Spain - 00y05m - - - 1 Leslie Matalonga
?/. - c.1179A>G r.(?) p.(=) Unknown - VUS g.184603950A>G - TRAPPC11(NM_021942.6):c.1179A>G (p.(Gly393=)) - TRAPPC11_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1208-5C>T r.spl? p.? Unknown - VUS g.184605123C>T g.183683970C>T TRAPPC11(NM_021942.5):c.1208-5C>T (p.?) - TRAPPC11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1283A>G r.(?) p.(His428Arg) Unknown - pathogenic (recessive) g.184605203A>G g.183684050A>G - - TRAPPC11_000056 - - - - Germline - - - - - DNA SEQ-NG - gene panel LGMDR18;LGMD2S - - - M - - - - - - - 1 Jana Zidkova
+/. - c.1287+5G>A r.spl? p.? Both (homozygous) ACMG pathogenic g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - - - - Germline yes - - - - DNA SEQ-NG - - LGMDR18;LGMD2S S_081 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - - - - 1 Bernt Popp
+?/. 12i c.1287+5G>A r.[1114_1287del, 1208_1287del] p.[Ala372_Ser429del, Ser403fs] Both (homozygous) - pathogenic g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Bögershausen 2013, OMIM:var0002 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES LGMD 23830518-Fam2 PubMed: Bögershausen 2013 2-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents M yes United States Hutterite - - - - 3 Johan den Dunnen
+/. 12i c.1287+5G>A r.spl p.? Both (homozygous) - pathogenic g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Bögershausen 2013, OMIM:var0002 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES LGMD 23830518-Fam2 PubMed: Bögershausen 2013 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes United States Hutterite - - - - 2 Johan den Dunnen
+/. 12i c.1287+5G>A r.spl p.? Both (homozygous) - pathogenic g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Bögershausen 2013, OMIM:var0002 - - Germline yes - - - - DNA SEQ, SEQ-NG - - LGMD 23830518-Ind1 PubMed: Bögershausen 2013 isolated patient - - United States Hutterite - - - - 1 Johan den Dunnen
+/. 12i c.1287+5G>A r.spl p.? Both (homozygous) - pathogenic g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Bögershausen 2013, OMIM:var0002 - - Germline yes - - - - DNA SEQ, SEQ-NG - - LGMD 23830518-Ind2 PubMed: Bögershausen 2013 isolated patient - - United States Hutterite - - - - 1 Johan den Dunnen
+?/. - c.1287+5G>A r.spl? p.? Unknown - likely pathogenic g.184605212G>A g.183684059G>A TRAPPC11(NM_021942.6):c.1287+5G>A - TRAPPC11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1287+5G>A r.spl? p.? Unknown - likely pathogenic g.184605212G>A g.183684059G>A - - TRAPPC11_000003 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+?/. - c.1287+5G>A r.spl? p.? Unknown - likely pathogenic g.184605212G>A - TRAPPC11(NM_021942.6):c.1287+5G>A - TRAPPC11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam1Pat1 PubMed: Justel 2023 family, 2 affected (2F) F - Spain Roma - - - - 2 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam1Pat2 PubMed: Justel 2023 relative F - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam2Pat3 PubMed: Justel 2023 - M - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam3Pat4 PubMed: Justel 2023 family, 2 affected (2M) M - Spain Roma - - - - 2 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam3Pat5 PubMed: Justel 2023 relative M - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam4Pat6 PubMed: Justel 2023 family, 2 affected (F, M) F - Spain Roma - - - - 2 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam4Pat7 PubMed: Justel 2023 relative M - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam5Pat8 PubMed: Justel 2023 - F - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam6Pat9 PubMed: Justel 2023 family, 2 affected (F, 2M) F - Spain Roma - - - - 3 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam6Pat10 PubMed: Justel 2023 relative M - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam6Pat11 PubMed: Justel 2023 relative M - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam7Pat12 PubMed: Justel 2023 - F - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam8Pat13 PubMed: Justel 2023 - F - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam9Pat14 PubMed: Justel 2023 - F - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam10Pat15 PubMed: Justel 2023 family, 2 affected (2M) M - Spain Roma - - - - 2 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam10Pat16 PubMed: Justel 2023 relative M - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam11Pat17 PubMed: Justel 2023 - M - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam12Pat18 PubMed: Justel 2023 - F - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam13Pat19 PubMed: Justel 2023 - M - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam14Pat20 PubMed: Justel 2023 - F - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam15Pat21 PubMed: Justel 2023 - M - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam16Pat22 PubMed: Justel 2023 - M - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam17Pat23 PubMed: Justel 2023 family, 2 affected (F, M) M - Spain Roma - - - - 2 Johan den Dunnen
+/. - c.1287+5G>A r.(1114_1287del) p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam17Pat24 PubMed: Justel 2023 relative F - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.spl p.(Ala372_Ser429del) Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Justel 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Fam18Pat25 PubMed: Justel 2023 - F - Spain Roma - - - - 1 Johan den Dunnen
+/. - c.1287+5G>A r.spl? p.? Both (homozygous) - pathogenic (recessive) g.184605212G>A g.183684059G>A - - TRAPPC11_000003 - PubMed: Marti 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat28 PubMed: Marti 2025 patient, no family history - - Spain - - - - - 1 Johan den Dunnen
-?/. - c.1287+10G>A r.(=) p.(=) Unknown - likely benign g.184605217G>A g.183684064G>A TRAPPC11(NM_021942.5):c.1287+10G>A - TRAPPC11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1288-5A>G r.spl? p.? Unknown - likely benign g.184605293A>G - TRAPPC11(NM_021942.5):c.1288-5A>G, TRAPPC11(NM_021942.6):c.1288-5A>G - TRAPPC11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1288-5A>G r.spl? p.? Unknown - likely benign g.184605293A>G - TRAPPC11(NM_021942.5):c.1288-5A>G, TRAPPC11(NM_021942.6):c.1288-5A>G - TRAPPC11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1346C>G r.(?) p.(Pro449Arg) Unknown - VUS g.184605356C>G - TRAPPC11(NM_021942.6):c.1346C>G (p.(Pro449Arg)) - TRAPPC11_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1359T>A r.(?) p.(Ser453Arg) Unknown - likely benign g.184605369T>A g.183684216T>A TRAPPC11(NM_021942.5):c.1359T>A (p.(Ser453Arg)) - TRAPPC11_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1366+5G>A r.spl? p.? Unknown - VUS g.184605381G>A - TRAPPC11(NM_021942.6):c.1366+5G>A - TRAPPC11_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1422-3G>A r.spl? p.? Unknown - likely benign g.184605846G>A g.183684693G>A TRAPPC11(NM_021942.5):c.1422-3G>A (p.?) - TRAPPC11_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1719del r.(?) p.Ser574Alafs*6 Unknown - likely pathogenic g.184606513del g.183685360del - - TRAPPC11_000025 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.1745A>G r.(?) p.(Gln582Arg) Unknown - VUS g.184606539A>G g.183685386A>G TRAPPC11(NM_021942.5):c.1745A>G (p.Q582R) - TRAPPC11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1788C>T r.(?) p.(Ala596=) Unknown - likely benign g.184607796C>T - TRAPPC11(NM_021942.5):c.1788C>T (p.A596=) - TRAPPC11_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18i c.1893+3A>G r.[1763_1893del,=] p.[Val588fs, =] Both (homozygous) - pathogenic g.184607904A>G g.183686751A>G - - TRAPPC11_000007 level normal transcript 0.20 PubMed: Koehler 2017, Journal: Koehler 2017, OMIM:var0004 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? 27707803-Fam1 PubMed: Koehler 2017, Journal: Koehler 2017 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents (first degree cousins) F;M yes Turkey - - - - - 2 Johan den Dunnen
+/. 18i c.1893+3A>G r.spl p.? Both (homozygous) - pathogenic g.184607904A>G g.183686751A>G - - TRAPPC11_000007 - PubMed: Koehler 2017, Journal: Koehler 2017, OMIM:var0004 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? 27707803-Fam2 PubMed: Koehler 2017, Journal: Koehler 2017 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents (first degree cousins) F;M yes Turkey - - - - - 2 Johan den Dunnen
-/. - c.1978G>C r.(?) p.(Val660Leu) Unknown - benign g.184612553G>C g.183691400G>C TRAPPC11(NM_021942.6):c.1978G>C (p.V660L) - TRAPPC11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1978G>C r.(?) p.(Val660Leu) Unknown - benign g.184612553G>C g.183691400G>C TRAPPC11(NM_021942.6):c.1978G>C (p.V660L) - TRAPPC11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2050-18C>T r.(=) p.(=) Unknown - likely benign g.184614095C>T - TRAPPC11(NM_021942.6):c.2050-18C>T - TRAPPC11_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2147C>G r.(?) p.(Ala716Gly) Unknown - likely benign g.184614210C>G - TRAPPC11(NM_021942.5):c.2147C>G (p.A716G, p.(Ala716Gly)), TRAPPC11(NM_021942.6):c.2147C>G (p.A716G) - TRAPPC11_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2147C>G r.(?) p.(Ala716Gly) Unknown - likely benign g.184614210C>G - TRAPPC11(NM_021942.5):c.2147C>G (p.A716G, p.(Ala716Gly)), TRAPPC11(NM_021942.6):c.2147C>G (p.A716G) - TRAPPC11_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2147C>G r.(?) p.(Ala716Gly) Unknown - likely benign g.184614210C>G - TRAPPC11(NM_021942.5):c.2147C>G (p.A716G, p.(Ala716Gly)), TRAPPC11(NM_021942.6):c.2147C>G (p.A716G) - TRAPPC11_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2162G>T r.(?) p.(Arg721Leu) Unknown - likely benign g.184614225G>T g.183693072G>T TRAPPC11(NM_021942.5):c.2162G>T (p.(Arg721Leu)) - TRAPPC11_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2243T>C r.(?) p.(Ile748Thr) Unknown - VUS g.184614747T>C - TRAPPC11(NM_021942.6):c.2243T>C (p.(Ile748Thr)) - TRAPPC11_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2330A>G r.(?) p.(Gln777Arg) Unknown - VUS g.184614834A>G - TRAPPC11(NM_021942.5):c.2330A>G (p.Q777R) - TRAPPC11_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2370C>T r.(?) p.(Thr790=) Unknown - benign g.184614874C>T g.183693721C>T TRAPPC11(NM_021942.6):c.2370C>T (p.T790=) - TRAPPC11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2370C>T r.(?) p.(Thr790=) Unknown - benign g.184614874C>T g.183693721C>T TRAPPC11(NM_021942.6):c.2370C>T (p.T790=) - TRAPPC11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2388A>C r.(?) p.(Gly796=) Unknown - likely benign g.184615071A>C - TRAPPC11(NM_021942.5):c.2388A>C (p.G796=) - TRAPPC11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2419G>A r.(?) p.(Val807Met) Unknown - VUS g.184615102G>A g.183693949G>A TRAPPC11(NM_021942.5):c.2419G>A (p.V807M) - TRAPPC11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2434A>C r.(?) p.(Thr812Pro) Unknown - benign g.184615117A>C g.183693964A>C TRAPPC11(NM_021942.6):c.2434A>C (p.T812P) - TRAPPC11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2461G>A r.(?) p.(Ala821Thr) Unknown - likely benign g.184615144G>A g.183693991G>A TRAPPC11(NM_021942.5):c.2461G>A (p.(Ala821Thr)) - TRAPPC11_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2483T>C r.(?) p.(Val828Ala) Unknown - VUS g.184615166T>C g.183694013T>C TRAPPC11(NM_021942.5):c.2483T>C (p.V828A), TRAPPC11(NM_021942.6):c.2483T>C (p.V828A) - TRAPPC11_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2483T>C r.(?) p.(Val828Ala) Unknown - likely benign g.184615166T>C g.183694013T>C TRAPPC11(NM_021942.5):c.2483T>C (p.V828A), TRAPPC11(NM_021942.6):c.2483T>C (p.V828A) - TRAPPC11_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2508G>A r.(?) p.(=) Unknown - VUS g.184615191G>A - TRAPPC11(NM_021942.6):c.2508G>A (p.(Gln836=)) - TRAPPC11_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2628+10del r.(=) p.(=) Unknown - benign g.184615886del g.183694733del TRAPPC11(NM_021942.5):c.2628+10delT, TRAPPC11(NM_021942.6):c.2628+10delT - TRAPPC11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.