Full data view for gene SLC25A13

Information The variants shown are described using the NM_014251.2 transcript reference sequence.

1062 entries on 11 pages. Showing entries 1 - 100.
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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_18_ c.(-191_*971)del r.(-191_*971)del p.? Parent #2 - pathogenic g.(95749532_95951459)del g.(96120220_96322147)del - - SLC25A13_000036 large deletion detected on RNA level Journal: Hutchin 2006 P-4-23 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - CDNI;NICCD Pat Journal: Hutchin 2006 P-4-23 - M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.2T>C r.? p.? Unknown - likely benign g.95951267A>G g.96321955A>G - - SLC25A13_000058 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.032 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #2 - pathogenic (recessive) g.95951267A>G g.96321955A>G M1T - SLC25A13_000058 - PubMed: Nguyen 2023 - - Germline - 4/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 4 Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic g.95951267A>G g.96321955A>G - - SLC25A13_000058 no variant 2nd chromosome PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0181 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 1 c.2T>C r.T>C p.0? Paternal (confirmed) - VUS (!) g.95951267A>G g.96321955A>G - - SLC25A13_000058 variant detected in 6/200 control chromosomes (China) PubMed: Zhang 2012 - - Germline - - - - - RNA RT-PCR, SEQ - - ? C0045 PubMed: Zhang 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. 1 c.15G>A r.0? p.0? Parent #1 - pathogenic g.95951254C>T g.96321942C>T EX1-1G>A - SLC25A13_000023 - PubMed: Takahashi 2006 - - Germline - - - - - DNA SEQ - - CDAA;CTLN2 patient PubMed: Takahashi 2006 - M - Japan - - - - - 1 Johan den Dunnen
+?/. 1 c.15G>A r.0? p.0? Parent #2 - likely pathogenic (recessive) g.95951254C>T g.96321942C>T Ex1-1G>A - SLC25A13_000023 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 5/314 chromosomes CTLN2 - - - DNA, RNA RT-PCR, SEQ - - CDAA;CTLN2 Pat857 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 1 Johan den Dunnen
+?/. 1 c.15G>A r.0 p.0 Maternal (confirmed) - likely pathogenic g.95951254C>T g.96321942C>T Ex1-1G>A - SLC25A13_000023 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 5/314 chromosomes CTLN2 - - - DNA SEQ - - CDAA;CTLN2 Pat549 PubMed: Tabata 2008, Journal: Tabata 2008 - - no Japan - - - - - 1 Johan den Dunnen
+/. - c.15G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.95951254C>T - - - SLC25A13_000023 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - ? NCU28 PubMed: Togawa 2016 - F - Japan - - - - - 1 Johan den Dunnen
+?/. 1 c.15G>A r.0 p.0 Parent #1 - likely pathogenic (recessive) g.95951254C>T g.96321942C>T Ex1-1G>A - SLC25A13_000023 combination variants not reported, 3 heterozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 5/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CDAA;CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 3 Johan den Dunnen
+?/. 1 c.15G>A r.0 p.0 Parent #1 - likely pathogenic (recessive) g.95951254C>T g.96321942C>T Ex1-1G>A - SLC25A13_000023 combination variants not reported, heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 2/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - CDNI;NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 2 Johan den Dunnen
+/. - c.15G>A r.spl p.? Parent #1 - pathogenic (recessive) g.95951254C>T g.96321942C>T (K5=) - SLC25A13_000023 - PubMed: Kido 2022 - - Germline - - - - - DNA SEQ - - ? Fam1PatB-76 PubMed: Kido 2022 patient F - Japan - - - - - 1 Johan den Dunnen
+/. - c.15G>A r.? p.? Parent #2 - pathogenic (recessive) g.95951254C>T g.96321942C>T Ex1-1G>A - SLC25A13_000023 - PubMed: Komatsu 2008 - - Germline - - - - - DNA SEQ - - ? Pat19 PubMed: Komatsu 2008 - M - - - - - - - 1 Johan den Dunnen
+/. 1i c.16-2A>T r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.95926265T>A g.96296953T>A - - chr7_007628 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? P917 PubMed: Song 2013 - F - Japan - - - - - 1 Johan den Dunnen
?/. 1i_3i c.(15+1_16-1)_(212+1_213-1)dup r.16_212dup p.Leu72TrpfsTer3 Maternal (confirmed) - VUS g.(95864230_95906507)_(95926264_95951253)dup g.(96234918_96277195)_(96296952_96321941)dup - - SLC25A13_000076 - PubMed: Zhang 2012 - - Germline - - - - - RNA RT-PCR, SEQ - - ? C0045 PubMed: Zhang 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. 2 c.46G>T r.46c>u p.Glu16* Parent #2 - pathogenic g.95926233C>A g.96296921C>A - - SLC25A13_000027 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 2/478 chromosomes NICCD - - - DNA SEQ - - CDNI;NICCD Pat758 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 1 Johan den Dunnen
+/. 2 c.46G>T r.46g>u p.Glu16* Maternal (confirmed) - pathogenic g.95926233C>A g.96296921C>A - - SLC25A13_000027 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 2/478 chromosomes NICCD - - - DNA, RNA RT-PCR, SEQ - - CDAA;CTLN2 Pat919 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.46G>T r.(?) p.(Glu16Ter) Parent #1 - pathogenic (recessive) g.95926233C>A g.96296921C>A - - SLC25A13_000027 - PubMed: Kido 2022 - - Germline - - - - - DNA SEQ - - ? Fam2PatB-80 PubMed: Kido 2022 patient M - Japan - - - - - 1 Johan den Dunnen
-/. 2i c.69+45C>G r.(?) p.(=) Parent #1 - benign g.95926165G>C g.96296853G>C - - SLC25A13_000001 - PubMed: Mitchell 2009 - - Germline - 8/94 - - - DNA MCA, SEQ - - ? - PubMed: Mitchell 2009 - - - United States - - - - - 8 Johan den Dunnen
+/. 2i_3i c.70-862_212+3527del r.70_212del p.Tyr24IlefsTer11 Paternal (confirmed) - pathogenic (recessive) g.95902983_95907514del g.96273671_96278202del del ex3 - SLC25A13_000078 - PubMed: Dimmock 2007, PubMed: Wong 2008 - - Germline - - - - - DNA, RNA arrayCGH, RT-PCR, SEQ - - ? patient PubMed: Dimmock 2007, PubMed: Wong 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. 2i_3 c.70-63_133del r.spl p.(Tyr24Ilefs*11) Parent #2 - pathogenic (recessive) g.95906590_95906716del g.96277278_96277404del - - SLC25A13_000070 - PubMed: Nguyen 2023 - - Germline - 1/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? WBCT210304 PubMed: Nguyen 2023 analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Viet Nam - - - - - 1 Johan den Dunnen
+/. 3 c.72T>A r.(?) p.(Tyr24Ter) Maternal (confirmed) - pathogenic (recessive) g.95906648A>T g.96277336A>T - - chr7_007620 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0060 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. - c.74C>A r.(?) p.(Ala25Glu) Both (homozygous) - pathogenic (recessive) g.95906646G>T g.96277334G>T A25E - chr7_007653 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat7 PubMed: Dimmock 2009 patient M - Italy Tunisia;Arab - - - - 1 Johan den Dunnen
+/. - c.103A>G r.(?) p.(Met35Val) Parent #2 - pathogenic (recessive) g.95906617T>C g.96277305T>C - - chr7_007636 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0236 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+?/. 3 c.103A>G r.(?) p.(Met35Val) Parent #1 - likely pathogenic g.95906617T>C g.96277305T>C - - chr7_007636 - PubMed: Liu 2026 - - Germline - 1/7496 chromosomes - - - DNA SEQ, SEQ-NG - 334-gene panel Healthy/Control - PubMed: Liu 2026 carrier screening 3748 individuals (2087F, 1661M) - - China - - - - - 1 Johan den Dunnen
+/. 3 c.127C>T r.(?) p.(Arg43*) Parent #1 - pathogenic g.95906593G>A g.96277281G>A - - SLC25A13_000016 compound heterozygous case PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CDAA;CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. - c.127C>T r.(?) p.(Arg43Ter) Parent #1 - pathogenic (recessive) g.95906593G>A g.96277281G>A R43X - SLC25A13_000016 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Dimmock 2009 patient F - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. - c.127C>T r.(?) p.(Arg43Ter) Parent #1 - pathogenic (recessive) g.95906593G>A g.96277281G>A R43X - SLC25A13_000016 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat2 PubMed: Dimmock 2009 2-generation family, 2 affected (son/mother) M - Canada French-Canadian - - - - 2 Johan den Dunnen
+/. - c.127C>T r.(?) p.(Arg43Ter) Parent #1 - pathogenic (recessive) g.95906593G>A g.96277281G>A R43X - SLC25A13_000016 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat3 PubMed: Dimmock 2009 mother F - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. - c.127C>T r.(?) p.(Arg43Ter) Both (homozygous) - pathogenic (recessive) g.95906593G>A g.96277281G>A R43X - SLC25A13_000016 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat4 PubMed: Dimmock 2009 patient F - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 3 c.135G>C r.(?) p.(Leu45Phe) Parent #2 - pathogenic (recessive) g.95906585C>G g.96277273C>G - - SLC25A13_000069 - PubMed: Nguyen 2023 - - Germline - 1/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 1 Johan den Dunnen
+/. - c.173_174del r.(?) p.(Val58GlyfsTer24) Both (homozygous) - pathogenic (recessive) g.95906548_95906549del g.96277236_96277237del 172_173delGT - chr7_007654 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat8 PubMed: Dimmock 2009 2-generation family, 2 affected sibs M yes United States Pakistan - - - - 2 Johan den Dunnen
+/. - c.173_174del r.(?) p.(Val58GlyfsTer24) Both (homozygous) - pathogenic (recessive) g.95906548_95906549del g.96277236_96277237del 172_173delGT - chr7_007654 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat9 PubMed: Dimmock 2009 sib (clinically asymptomatic) F yes United States Pakistan - - - - 1 Johan den Dunnen
?/. - c.193G>A r.(?) p.(Val65Met) Unknown - VUS g.95906527C>T g.96277215C>T SLC25A13(NM_001160210.2):c.193G>A (p.V65M) - SLC25A13_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.213-2A>G r.spl p.? Parent #1 - likely pathogenic g.95864231T>C g.96234919T>C - - chr7_007671 - PubMed: Liu 2026 - - Germline - 1/7496 chromosomes - - - DNA SEQ, SEQ-NG - 334-gene panel Healthy/Control - PubMed: Liu 2026 carrier screening 3748 individuals (2087F, 1661M) - - China - - - - - 1 Johan den Dunnen
+/. 4 c.265del r.(?) p.(Asp89MetfsTer6) Maternal (confirmed) - pathogenic (recessive) g.95864177del g.96234865del 265delG - chr7_007625 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0157 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
-/. 4i c.328+6A>G r.(?) p.(=) Parent #1 - benign g.95864108T>C g.96234796T>C - - SLC25A13_000002 - PubMed: Mitchell 2009 - rs6957975 Germline - 57/94 - - - DNA MCA, SEQ - - ? - PubMed: Mitchell 2009 - - - United States - - - - - 57 Johan den Dunnen
-/. - c.328+6A>G r.(=) p.(=) Unknown - benign g.95864108T>C g.96234796T>C SLC25A13(NM_001160210.2):c.328+6A>G - SLC25A13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.328+6A>G r.(?) p.(=) Parent #1 - benign g.95864108T>C g.96234796T>C - - SLC25A13_000002 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Dimmock 2009 patient F - Canada French-Canadian - - - - 1 Johan den Dunnen
-/. - c.328+6A>G r.(?) p.(=) Parent #1 - benign g.95864108T>C g.96234796T>C - - SLC25A13_000002 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat2 PubMed: Dimmock 2009 2-generation family, 2 affected (son/mother) M - Canada French-Canadian - - - - 2 Johan den Dunnen
-/. - c.328+6A>G r.(?) p.(=) Parent #1 - benign g.95864108T>C g.96234796T>C - - SLC25A13_000002 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat3 PubMed: Dimmock 2009 mother F - Canada French-Canadian - - - - 1 Johan den Dunnen
-/. - c.328+6A>G r.(?) p.(=) Both (homozygous) - benign g.95864108T>C g.96234796T>C - - SLC25A13_000002 - PubMed: Dimmock 2009 - - Germline - - - - - DNA SEQ - - ? Pat4 PubMed: Dimmock 2009 patient F - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 4i c.329-153_468+2353del r.329_468del p.Glu110GlyfsTer18 Paternal (confirmed) - pathogenic (recessive) g.95835798_95838443del g.96206486_96209131del [c.329−154_c.468+2352del2646;c.468+2392_c.468+2393ins23] - chr7_007638 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0360 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
-/. 4i c.329-42T>G r.(?) p.(=) Parent #1 - benign g.95838331A>C g.96209019A>C - - SLC25A13_000003 - PubMed: Mitchell 2009 - - Germline - 5/94 - - - DNA MCA, SEQ - - ? - PubMed: Mitchell 2009 - - - United States - - - - - 5 Johan den Dunnen
+/. 4i c.329-3_329-2ins[[NC_000016.10:g.33952565_33958621];329-16_316-3] r.[329_468del,?] p.[Glu110GlyfsTer18,?] Maternal (confirmed) - pathogenic (recessive) g.95838291_95838292ins[[NC_000016.10:g.33952565_33958621];95838292_95838305] g.96208979_96208980ins[[NC_000016.10:g.33952565_33958621];96208980_96208993] IVS4ins6kb - SLC25A13_000075 6072bp transposal insertion (chromosome 16p11.2), {GenBank:KF425758} PubMed: Song 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? C0054 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 4i c.329-3_329-2ins[[NC_000016.10:g.33952565_33958621];329-16_316-3] r.[329_468del,?] p.[Glu110GlyfsTer18,?] Parent #1 - pathogenic (recessive) g.95838291_95838292ins[[NC_000016.10:g.33952565_33958621];95838292_95838305] g.96208979_96208980ins[[NC_000016.10:g.33952565_33958621];96208980_96208993] IVS4ins6kb - SLC25A13_000075 6072bp transposal insertion (chromosome 16p11.2), {GenBank:KF425758} PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0404 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 4i c.329-3_329-2ins[[NC_000016.10:g.33952565_33958621];329-16_316-3] r.[329_468del,?] p.[Glu110GlyfsTer18,?] Parent #2 - pathogenic (recessive) g.95838291_95838292ins[[NC_000016.10:g.33952565_33958621];95838292_95838305] g.96208979_96208980ins[[NC_000016.10:g.33952565_33958621];96208980_96208993] IVS4ins6kb - SLC25A13_000075 6072bp transposal insertion (chromosome 16p11.2), {GenBank:KF425758} PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0173 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. 4i c.329-3_329-2ins[[NC_000016.10:g.33952565_33958621];329-16_316-3] r.[329_468del,?] p.[Glu110GlyfsTer18,?] Parent #2 - pathogenic (recessive) g.95838291_95838292ins[[NC_000016.10:g.33952565_33958621];95838292_95838305] g.96208979_96208980ins[[NC_000016.10:g.33952565_33958621];96208980_96208993] IVS4ins6kb - SLC25A13_000075 6072bp transposal insertion (chromosome 16p11.2), {GenBank:KF425758} PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0184 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. 4i c.329-3_329-2ins[[NC_000016.10:g.33952565_33958621];329-16_316-3] r.[329_468del,?] p.[Glu110GlyfsTer18,?] Parent #2 - pathogenic (recessive) g.95838291_95838292ins[[NC_000016.10:g.33952565_33958621];95838292_95838305] g.96208979_96208980ins[[NC_000016.10:g.33952565_33958621];96208980_96208993] IVS4ins6kb - SLC25A13_000075 6072bp transposal insertion (chromosome 16p11.2), {GenBank:KF425758} PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0220 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. 4i c.329-3_329-2ins[[NC_000016.10:g.33952565_33958621];329-16_316-3] r.[329_468del,?] p.[Glu110GlyfsTer18,?] Parent #2 - pathogenic (recessive) g.95838291_95838292ins[[NC_000016.10:g.33952565_33958621];95838292_95838305] g.96208979_96208980ins[[NC_000016.10:g.33952565_33958621];96208980_96208993] IVS4ins6kb - SLC25A13_000075 6072bp transposal insertion (chromosome 16p11.2), {GenBank:KF425758} PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0382 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 4i c.329-3_329-2ins[[NC_000016.10:g.33952565_33958621];329-16_316-3] r.[329_468del,?] p.[Glu110GlyfsTer18,?] Parent #2 - pathogenic (recessive) g.95838291_95838292ins[[NC_000016.10:g.33952565_33958621];95838292_95838305] g.96208979_96208980ins[[NC_000016.10:g.33952565_33958621];96208980_96208993] IVS4ins6kb - SLC25A13_000075 6072bp transposal insertion (chromosome 16p11.2), {GenBank:KF425758} PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0387 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 5 c.415G>A r.(?) p.(Gly139Arg) Parent #1 - pathogenic (recessive) g.95838203C>T g.96208891C>T - - chr7_007618 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0106 PubMed: Song 2013 - M - Malaysia - - - - - 1 Johan den Dunnen
+/. 5 c.443A>G r.(?) p.(Tyr148Cys) Parent #1 - pathogenic (recessive) g.95838175T>C g.96208863T>C - - chr7_007616 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? P645 PubMed: Song 2013 - F - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.448G>T r.(?) p.(Glu150Ter) Parent #1 - pathogenic (recessive) g.95838170C>A g.96208858C>A - - chr7_007614 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? P111 PubMed: Song 2013 - M - Japan - - - - - 1 Johan den Dunnen
+/. 4i c.468+2392_468+2393insATATACATCTAGTATATAATCTT - - Paternal (confirmed) - pathogenic (recessive) g.95835761_95835762insTTATATACTAGATGTATATAAGA g.96206449_96206450insTTATATACTAGATGTATATAAGA [c.329−154_c.468+2352del2646;c.468+2392_c.468+2393ins23] - chr7_007639 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0360 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 6 c.475C>T r.(?) p.(Gln159Ter) Parent #1 - pathogenic (recessive) g.95822489G>A g.96193177G>A Q159X - chr7_007611 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0125 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. - c.493C>T r.(?) p.(Gln165Ter) Parent #1 - pathogenic (recessive) g.95822471G>A g.96193159G>A - - chr7_007633 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0401 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. - c.495del r.(?) p.(Ala166ProfsTer30) Parent #1 - pathogenic (recessive) g.95822470del g.96193158del 495delA - chr7_007630 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0175 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. 6 c.527G>T r.(?) p.(Gly176Val) Parent #1 - pathogenic (recessive) g.95822437C>A g.96193125C>A - - chr7_007617 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? P1075 PubMed: Song 2013 - M - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.550C>T r.(?) p.(Arg184*) Parent #1 - pathogenic g.95822414G>A g.96193102G>A R184X - SLC25A13_000042 unknown variant 2nd chromosome PubMed: Lu 2005 - - Germline yes - - - - DNA SEQ - - CDAA;CTLN2 16059747-Pat PubMed: Lu 2005 - - no Japan - - - - - 1 Johan den Dunnen
+/. 6 c.550C>T r.(550c>u) p.(Arg184Ter) Parent #1 - pathogenic (recessive) g.95822414G>A g.96193102G>A R184X - SLC25A13_000042 combination variants not reported, 1 heterozygous case CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 2/314 chromosomes CTLN1 - - - DNA RT-PCR, SEQ - - CDAA;CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 1 Johan den Dunnen
+/. 6 c.550C>T r.(?) p.(Arg184Ter) Parent #1 - pathogenic (recessive) g.95822414G>A g.96193102G>A - - SLC25A13_000042 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0173 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. 6 c.550C>T r.(?) p.(Arg184Ter) Parent #1 - pathogenic (recessive) g.95822414G>A g.96193102G>A - - SLC25A13_000042 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0291 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. 6 c.550C>T r.(?) p.(Arg184Ter) Parent #2 - pathogenic (recessive) g.95822414G>A g.96193102G>A - - SLC25A13_000042 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0369 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.95822348C>T g.96193036C>T IVS6+1G>A - chr7_007610 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0110 PubMed: Song 2013 - F - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.95822348C>T g.96193036C>T IVS6+1G>A - chr7_007610 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0116 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.95822348C>T g.96193036C>T IVS6+1G>A - chr7_007610 no variant 2nd chromosome PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0124 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.95822348C>T g.96193036C>T IVS6+1G>A - chr7_007610 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0150 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822348C>T g.96193036C>T IVS6+1G>A - chr7_007610 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0069 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822348C>T g.96193036C>T IVS6+1G>A - chr7_007610 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0095 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822348C>T g.96193036C>T IVS6+1G>A - chr7_007610 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0099 PubMed: Song 2013 - F - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822348C>T g.96193036C>T IVS6+1G>A - chr7_007610 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0129 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822348C>T g.96193036C>T IVS6+1G>A - chr7_007610 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0134 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822348C>T g.96193036C>T IVS6+1G>A - chr7_007610 - PubMed: Song 2013 - - Germline - - - - - DNA SEQ - - ? C0147 PubMed: Song 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>C r.615_616ins[C;615+2_616-1] p.AlaValfs*7 Both (homozygous) - pathogenic g.95822348C>G g.96193036C>G IVS6+1G>C - SLC25A13_000041 - PubMed: Lu 2005 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - CDAA;CTLN2 16059747-Pat1 PubMed: Lu 2005 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.615+1G>C r.spl p.? Maternal (confirmed) ACMG pathogenic (recessive) g.95822348C>G - - - SLC25A13_000041 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - ? NCU14 PubMed: Togawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>C r.615_616ins[c;615+2_616-1] p.Ala206LeufsTer7 Parent #1 - pathogenic (recessive) g.95822348C>G g.96193036C>G IVS6+1G>C - SLC25A13_000041 combination variants not reported, 1 heterozygous case NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 1/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - CDNI;NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 1 Johan den Dunnen
+/. 6i c.615+1G>C r.615_616ins[c;615+2_616-1] p.Ala206LeufsTer7 Both (homozygous) - pathogenic (recessive) g.95822348C>G g.96193036C>G IVS6+1G>C - SLC25A13_000041 1 homozygous case CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 2/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CDAA;CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 1 Johan den Dunnen
+/. - c.615+1G>C r.(469_615del) p.(Glu157_Ala205del) Parent #1 - pathogenic g.95822348C>G g.96193036C>G (A206Lfs*8) - SLC25A13_000041 no variant 2nd chromosome PubMed: Kido 2022 - - Germline - - - - - DNA SEQ - - ? Fam3PatB-16 PubMed: Kido 2022 patient M - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl? p.? Parent #2 - pathogenic g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Yeh 2006 - - Germline yes - - - - DNA SEQ - - CDNI;NICCD 16737877-Pat1 PubMed: Yeh 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #1 - pathogenic g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 unknown variant 2nd chromosome PubMed: Yeh 2006 - - Germline yes - - - - DNA SEQ - - CDNI;NICCD 16737877-Pat5 PubMed: Yeh 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.0 p.0 Maternal (confirmed) - pathogenic g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 no detectable mRNA PubMed: Lu 2005,PubMed: Tazawa 2004 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - CDNI;NICCD 15542392-Pat8 PubMed: Tazawa 2004 - F no Japan - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822344C>T g.96193032C>T - - SLC25A13_000033 - PubMed: Nguyen 2023 - - Germline - 8/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 8 Johan den Dunnen
+/. 6i c.615+5G>A r.0 p.0 Parent #1 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 combination variants not reported, 9 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 10/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - CDNI;NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - 9 Johan den Dunnen
+/. 6i c.615+5G>A r.0 p.0 Parent #1 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 combination variants not reported, 1 heterozygous case NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 10/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - CDNI;NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 1 Johan den Dunnen
+/. - c.615+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.95822344C>T g.96193032C>T - - SLC25A13_000033 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat4 PubMed: Chen 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.615+5G>A r.spl p.? Parent #1 ACMG pathogenic (recessive) g.95822344C>T g.96193032C>T - - SLC25A13_000033 ACMG PS3, PM3_vs, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat72 PubMed: Wang 2024 patient, no family history F - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0240 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0293 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0356 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0387 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0396 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0189 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0197 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0222 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0266 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0267 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0284 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0288 PubMed: Lin 2016 patient M - China - - - - - 1 Johan den Dunnen
+/. 6i c.615+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.95822344C>T g.96193032C>T IVS6+5G>A - SLC25A13_000033 - PubMed: Lin 2016 - - Germline - - - - - DNA SEQ - - ? C0306 PubMed: Lin 2016 patient F - China - - - - - 1 Johan den Dunnen
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