Full data view for gene SLC25A13

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

255 entries on 3 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 - - 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.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 - - 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 - - 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 - - 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 - - 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 - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 2 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 - - 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 - - CTLN2 Pat919 PubMed: Tabata 2008, Journal: Tabata 2008 - - - 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_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.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 - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - 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.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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 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
+/. 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 - - 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 - - CTLN2 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.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 - - 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 - - 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 - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 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 - - 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 - - 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 - - NICCD 15542392-Pat8 PubMed: Tazawa 2004 - F no Japan - - - - - 1 Johan den Dunnen
+/. 5i 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 - - 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 - - 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.640C>T r.(?) p.(Gln214Ter) Parent #2 - pathogenic (recessive) g.95820535G>A g.96191223G>A - - SLC25A13_000073 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat4 PubMed: Chen 2022 - F - China - - - - - 1 Johan den Dunnen
+/. 7 c.674C>A r.(?) p.(Ser225*) Parent #2 - pathogenic g.95820501G>T g.96191189G>T - - SLC25A13_000010 - PubMed: Kobayashi 1999, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0004 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.674C>A r.(?) p.(Ser225*) Parent #2 - pathogenic g.95820501G>T g.96191189G>T - - SLC25A13_000010 - PubMed: Tazawa 2001 - - Germline - - - - - DNA SEQ - - NICCD - PubMed: Tazawa 2001 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.674C>A r.(?) p.(Ser225*) Parent #2 - pathogenic g.95820501G>T g.96191189G>T - - SLC25A13_000010 - PubMed: Kobayashi 1999, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0004 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.674C>A r.674c>a p.Ser225* Parent #1 - pathogenic g.95820501G>T g.96191189G>T - - SLC25A13_000010 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 12/478 chromosomes NICCD - - - DNA SEQ - - NICCD Pat758 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 1 Johan den Dunnen
+/. 7 c.674C>A r.(?) p.(Ser225*) Parent #2 - pathogenic (recessive) g.95820501G>T g.96191189G>T - - SLC25A13_000010 - PubMed: Takahashi 2006 - - Germline - - - - - DNA SEQ - - CTLN2 patient PubMed: Takahashi 2006 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.674C>A r.(?) p.(Ser225*) Maternal (confirmed) ACMG pathogenic (recessive) g.95820501G>T - - - SLC25A13_000010 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - ? NCU15 PubMed: Togawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. 7 c.674C>A r.674c>a p.Ser225Ter Parent #1 - pathogenic (recessive) g.95820501G>T g.96191189G>T S225X - SLC25A13_000010 combination variants not reported, 9 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 12/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 9 Johan den Dunnen
+/. 7 c.674C>A r.674c>a p.Ser225Ter Parent #1 - pathogenic (recessive) g.95820501G>T g.96191189G>T S225X - SLC25A13_000010 combination variants not reported, 15 heterozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 23/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 15 Johan den Dunnen
+/. 7 c.674C>A r.674c>a p.Ser225Ter Both (homozygous) - pathogenic (recessive) g.95820501G>T g.96191189G>T S225X - SLC25A13_000010 1 homozygous case NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 12/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 1 Johan den Dunnen
+/. 7 c.674C>A r.674c>a p.Ser225Ter Both (homozygous) - pathogenic (recessive) g.95820501G>T g.96191189G>T S225X - SLC25A13_000010 4 homozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 23/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 4 Johan den Dunnen
?/. - c.848G>A r.(?) p.(Gly283Glu) Unknown - VUS g.95818893C>T g.96189581C>T SLC25A13(NM_001160210.2):c.848G>A (p.G283E) - SLC25A13_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.848+8G>T r.(=) p.(=) Unknown - benign g.95818885C>A g.96189573C>A SLC25A13(NM_014251.3):c.848+8G>T - SLC25A13_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.848+28del r.(=) p.(=) Unknown - benign g.95818882del g.96189570del SLC25A13(NM_001160210.2):c.848+28delT - SLC25A13_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.851_854del r.(?) p.(Met285ProfsTer2) Unknown - likely pathogenic g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 - PubMed: Wang 2019 - - Germline - 1/16 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Kobayashi 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0001 - - - - - - - - - 9 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #2 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Kobayashi 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0001 - - - - - - - - - 9 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Kobayashi 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0004 - - - - - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Kobayashi 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0001 - - - - - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Ohura 2001, OMIM:var0001 - - Germline - - - - - DNA SEQ - - NICCD - PubMed: Ohura 2001, OMIM:var0001 - - - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Tamamori 2002, OMIM:var0001 - - Germline - - - - - DNA SEQ - - NICCD - PubMed: Tamamori 2002, OMIM:var0001 - - - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Kobayashi 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0004 - - - - - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Unknown - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CTLN2 - - - F - China - - - - - 1 Chao Liu
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 compound heterozygous case PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - China - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 compound heterozygous cases PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - 11 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Both (homozygous) - pathogenic g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - 11 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 compound heterozygous case PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Korea - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Both (homozygous) - pathogenic g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 8 c.852_855del r.852_855del p.Met285Profs*2 Paternal (confirmed) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851delGTAT - SLC25A13_000007 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 108/314 chromosomes CTLN2 - - - DNA, RNA RT-PCR, SEQ - - CTLN2 Pat919 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Maternal (confirmed) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851delGTAT - SLC25A13_000007 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 108/314 chromosomes CTLN2 - - - DNA, RNA PCRlr, RT-PCR, SEQ - - CTLN2 Pat557 PubMed: Tabata 2008, Journal: Tabata 2008 - F no Japan - - - - partial liver transplantation from mother 1 Johan den Dunnen
+/. 9 c.852_855del r.852_855del p.Met285Profs*2 Maternal (confirmed) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851delGTAT - SLC25A13_000007 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 108/314 chromosomes CTLN2 - - - DNA, RNA RT-PCR, SEQ - - CTLN2 Pat456 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Yeh 2006 - - Germline yes - - - - DNA SEQ - - NICCD 16737877-Pat1 PubMed: Yeh 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Both (homozygous) - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Yeh 2006 - - Germline yes - - - - DNA SEQ - - NICCD 16737877-Pat2 PubMed: Yeh 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Both (homozygous) - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Yeh 2006 - - Germline yes - - - - DNA SEQ - - NICCD 16737877-Pat3 PubMed: Yeh 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Both (homozygous) - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Yeh 2006 - - Germline yes - - - - DNA SEQ - - NICCD 16737877-Pat11 PubMed: Yeh 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Ko 2007 - - Germline yes - - - - DNA SEQ - - NICCD 17982687-Pat3 PubMed: Ko 2007 - M - Korea - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Ko 2007 - - Germline yes - - - - DNA SEQ - - NICCD 17982687-Pat4 PubMed: Ko 2007 - F - Korea - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Ko 2007 - - Germline yes - - - - DNA SEQ - - CTLN2 17982687-Pat6 PubMed: Ko 2007 - M - Korea - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.852_855del p.Met285Profs*2 Maternal (confirmed) - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - Journal: Sheng 2006 P-18-24 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - NICCD Pat Journal: Sheng 2006 P-18-24 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Unknown - pathogenic g.95818685_95818688del g.96189373_96189376del SLC25A13(NM_001160210.2):c.852_855delTATG (p.M285Pfs*2) - SLC25A13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.852_855del r.(?) p.(Met285Profs*2) Unknown ACMG pathogenic (recessive) g.95818684_95818687del - 852_855delTATG - SLC25A13_000007 - PubMed: Togawa 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? NCU16 PubMed: Togawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285Profs*2) Paternal (confirmed) ACMG pathogenic (recessive) g.95818684_95818687del - 852_855delTATG - SLC25A13_000007 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - ? NCU17 PubMed: Togawa 2016 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285Profs*2) Paternal (confirmed) ACMG pathogenic (recessive) g.95818684_95818687del - 852_855delTATG - SLC25A13_000007 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - ? NCU15 PubMed: Togawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 247 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 4 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 8 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 17 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 4 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 3 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 3 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Paternal (confirmed) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? WBCT170102 PubMed: Nguyen 2023 analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Viet Nam - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 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
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 2 heterozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 108/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - 2 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 15 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - 15 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 1 homozygous case CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 108/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 23 homozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - 23 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 44 heterozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 108/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 44 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 78 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 78 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 28 homozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 108/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 28 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 21 homozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 21 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 2 heterozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 108/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - 2 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 2 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - 2 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 1 homozygous case NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 4 homozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Viet Nam Asia-E - - - - 4 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Chen 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 852_854del - SLC25A13_000007 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat2 PubMed: Chen 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 853_854del - SLC25A13_000007 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat3 PubMed: Chen 2022 - M - China - - - - - 1 Johan den Dunnen
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