Unique variants in the TAZ gene

The variants collected by the Barth Syndrome Foundation were used to initiate this database
Information The variants shown are described using the NM_000116.3 transcript reference sequence.

267 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. 1 - c.-74340_*1073086dup - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 1 - c.-69773_*211765dup r.0? p.0? - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.-12339A>G r.(?) p.(=) - VUS g.153627842A>G g.154399501A>G RPL10(NM_001303625.1):c.97A>G (p.I33V) - RPL10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-12010A>G r.(?) p.(=) - pathogenic g.153628171A>G g.154399830A>G RPL10(NM_001303625.1):c.218A>G (p.N73S) - RPL10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.-11384C>T r.(?) p.(=) - likely benign g.153628797C>T g.154400456C>T RPL10(NM_001303625.1):c.330-8C>T - RPL10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-11248G>A r.(?) p.(=) - likely pathogenic g.153628933G>A g.154400592G>A - - RPL10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-11066C>T r.(?) p.(=) - VUS g.153629115C>T g.154400774C>T RPL10(NM_006013.3):c.565C>T (p.(Arg189Trp)) - RPL10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.-11026A>G r.(?) p.(=) - benign g.153629155A>G g.154400814= RPL10(NM_006013.4):c.605A>G (p.N202S) - RPL10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-11023G>A r.(?) p.(=) - likely benign g.153629158G>A - RPL10(NM_001303625.1):c.608G>A (p.R203H) - RPL10_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-10998C>T r.(?) p.(=) - likely benign g.153629183C>T g.154400842C>T RPL10(NM_001256577.1):c.470C>T (p.(Pro157Leu)) - RPL10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-10937C>G r.(?) p.(=) - VUS g.153629244C>G g.154400903C>G RPL10(NM_001256577.2):c.531C>G (p.Y177*) - RPL10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-10933C>T r.(?) p.(=) - likely benign g.153629248C>T g.154400907C>T RPL10(NM_001256577.2):c.535C>T (p.L179=) - RPL10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-8890C>T r.(?) p.(=) - VUS g.153631291C>T g.154402950C>T DNASE1L1(NM_001009932.1):c.766G>A (p.(Glu256Lys)) - DNASE1L1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-7020G>C r.(?) p.(=) - VUS g.153633161G>C g.154404820G>C DNASE1L1(NM_001009932.1):c.311+8C>G (p.(=)) - DNASE1L1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-6845C>T r.(?) p.(=) - likely benign g.153633336C>T g.154404995C>T DNASE1L1(NM_006730.3):c.224G>A (p.R75Q) - DNASE1L1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-6832G>A r.(?) p.(=) - VUS g.153633349G>A g.154405008G>A DNASE1L1(NM_006730.3):c.211C>T (p.R71*) - RPL10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-6399A>G r.(?) p.(=) - VUS g.153633782A>G g.154405441A>G DNASE1L1(NM_006730.3):c.128T>C (p.L43S) - RPL10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-6285G>A r.(?) p.(=) - VUS g.153633896G>A g.154405555G>A DNASE1L1(NM_001009932.1):c.14C>T (p.(Thr5Ile)) - DNASE1L1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 _1_11_ c.-1390_*4002del r.0? p.0? - pathogenic g.153638793_153653347del g.154410451_154425005del TAZ deletion - TAZ_000005 complete deletion, Alu mediated, 15 kb PubMed: Singh 2009 - - Unknown - - - - - Johan den Dunnen
-?/. 2 1 c.-121del r.(?) p.(=) - likely benign g.153640060del g.154411724del - - TAZ_000203 - - - - Germline - - - - - Yu Sun
-/. 3 1 c.-120del r.(?) p.(=) - benign g.153640061del - -119ins/del T - RPL10_000017, TAZ_000003 VKGL data sharing initiative Nederland DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), 1 more item - rs11388353 CLASSIFICATION record, Unknown - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/. 1 - c.-120dup r.(?) p.(=) - benign g.153640061dup - TAZ(NM_000116.3):c.-120dupT - RPL10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 1 c.-88G>C r.(?) p.(=) - benign g.153640093G>C g.154411756G>C - - TAZ_000004 VKGL data sharing initiative Nederland DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), 2 more items - rs113130344 CLASSIFICATION record, Germline, Unknown - 3/380 chromosomes - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 1 1 c.-17C>T r.(?) p.(=) - likely pathogenic g.153640164C>T g.154411827C>T - - TAZ_000006 - DB Barth Syndrome Foundation Harvard Partners (USA) - - Unknown - - - - - Johan den Dunnen
+/. 2 _1_4i c.(?_-1)_(370+1_371-1)del r.0? p.0? - pathogenic g.153640180_153641905del, g.153640181_153641905del - Ex1_Ex4del - TAZ_000000 1 more item DB Barth Syndrome Foundation - reported by family, DB Barth Syndrome Foundation Harvard Partners (USA) - - Unknown - - - - - Johan den Dunnen
+/. 5 _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0? - pathogenic g.153640180_153642528del - Ex1_Ex5 del - TAZ_000000 3 more items DB Barth Syndrome Foundation - reported by family, PubMed: Rigaud 2013 - - Germline, Unknown - - - - - Johan den Dunnen
+/. 1 _1_11_ c.(?_-1)_(*1_?)del r.0? p.0? - pathogenic g.153640180_153649344del - complete deletion - TAZ_000000 1 more item DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.9dup r.(?) p.(His4Alafs*130) - pathogenic g.153640189dup g.154411852dup insG297 - TAZ_000027 de novo from mother PubMed: Cantlay 1999 - - De novo - - - - - Johan den Dunnen
+?/. 1 1 c.13G>T r.(?) p.(Val5Leu) - likely pathogenic g.153640193G>T g.154411856G>T - - TAZ_000038 - DB Barth Syndrome Foundation Harvard Partners (USA) - rs397515737 Unknown - - - - - Johan den Dunnen
?/. 1 - c.30C>A r.(?) p.(Pro10=) - VUS g.153640210C>A g.154411873C>A - - RPL10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.44T>G r.(?) p.(Leu15Arg) - VUS g.153640224T>G g.154411887T>G - - RPL10_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.45C>T r.(?) p.(Leu15=) - likely benign g.153640225C>T g.154411888C>T - - RPL10_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.45_46insT r.(?) p.(Thr16TyrfsTer118) - VUS g.153640225_153640226insT g.154411888_154411889insT - - RPL10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 1 c.48C>G r.(?) p.(Thr16=) - benign g.153640228C>G g.154411891C>G - - TAZ_000126 MYBPC3 .Arg1226Leu likely path VUS DB Barth Syndrome Foundation Harvard Partners (USA) - rs397515743 Unknown - - - - - Johan den Dunnen
?/. 1 - c.50G>T r.(?) p.(Trp17Leu) - VUS g.153640230G>T g.154411893G>T - - RPL10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 1 c.51G>A r.(?) p.(Trp17*) - pathogenic g.153640231G>A g.154411894G>A - - TAZ_000131 - DB Barth Syndrome Foundation MGZ (Munchen, Germany), {PMID:Steward 2011:DB Barth Syndrome Foundation} - rs104894941 Germline - - - - - Johan den Dunnen
-/. 1 - c.51G>C r.(?) p.(Trp17Cys) - benign g.153640231G>C g.154411894G>C - - RPL10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.52A>G r.(?) p.(Thr18Ala) - VUS g.153640232A>G g.154411895A>G - - RPL10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.53C>G r.(?) p.(Thr18Ser) - likely benign g.153640233C>G g.154411896C>G - - RPL10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.53C>T r.(?) p.(Thr18Ile) - VUS g.153640233C>T g.154411896C>T - - RPL10_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.54_55del r.54_55del p.Leu19Glyfs*114 - pathogenic g.153640234_153640235del g.154411897_154411898del 53_54delCC - TAZ_000001 CL6/MLCL5 PubMed: Johnston 1997, PubMed: Schlame 2003, PubMed: Gonzalez 2005 - - Unknown - - - - - Johan den Dunnen
+/. 1 1 c.62G>T r.(?) p.(Ser21Ile) - pathogenic g.153640242G>T g.154411905G>T - - TAZ_000161 - - - rs112148852 Unknown - - - - - Johan den Dunnen
+/. 1 1 c.83T>A r.(?) p.(Val28Glu) - pathogenic g.153640263T>A g.154411926T>A - - TAZ_000199 - DB Barth Syndrome Foundation - BZapaƂa (Krakow, Poland) - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.83_85del r.(?) p.(Val28del) - pathogenic g.153640263_153640265del g.154411926_154411928del 82_84delGTG - TAZ_000197 de novo from mother; CL6/MLCL5 {PMID:Steward 2011:DB Barth Syndrome Foundation}, PubMed: Kirwin 2014 - - De novo - - - - - Johan den Dunnen
+/. 1 1 c.86G>A r.(?) p.(Gly29Asp) - pathogenic g.153640266G>A g.154411929G>A - - TAZ_000200 - PubMed: Mazurova 2013 - - Unknown - - - - - Johan den Dunnen
+/. 1 1i c.109+1G>C r.[109_110ins109+1_109+54] p.Lys37Ser_Tyr38ins18 - pathogenic g.153640290G>C g.154411953G>C - - TAZ_000050 de novo, maternal gonadal mosaicism PubMed: Chang 2010, PubMed: Momoi 2012 - - De novo - - - - - Johan den Dunnen
+/. 1 1i c.109+5G>A r.[109_110ins109+1_109+54] p.Lys37Ser_Tyr38ins18 - pathogenic g.153640294G>A g.154411957G>A - - TAZ_000002 CL 6 PubMed: Johnston 1997, PubMed: Schlame 2003, PubMed: Gonzalez 2005 - - De novo - - - - - Johan den Dunnen
+/. 1 1i c.109+5G>C r.[109_110ins109+1_109+54] p.Lys37Ser_Tyr38ins18 - pathogenic g.153640294G>C g.154411957G>C - - TAZ_000010 CL 6 PubMed: Johnston 1997, PubMed: Schlame 2003, PubMed: Kelley 1991 - - Unknown - - - - - Johan den Dunnen
+/. 1 1i c.109+6T>C r.spl p.(=) - pathogenic g.153640295T>C g.154411958T>C - - TAZ_000020 mRNA analysed but effect on splicing not described PubMed: Mazurova 2013 - - Germline - - - - - Johan den Dunnen
-/. 1 1i c.109+28C>T r.(=) p.(=) - benign g.153640317C>T g.154411980C>T - - TAZ_000015 - DB Barth Syndrome Foundation Harvard Partners (USA) - rs397515736 Unknown - - - - - Johan den Dunnen
-?/. 1 - c.110-29G>T r.(=) p.(=) - likely benign g.153640394G>T g.154412057G>T - - RPL10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 6 1i c.110-17C>T r.(=), r.= p.(=), p.= - benign g.153640406C>T g.154412069= DNASE1L1(NM_001009932.2):c.-609G>A, TAZ(NM_000116.3):c.110-17C>T - TAZ_000021 no effect on splicing, VKGL data sharing initiative Nederland DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Gonzalez 2005, 1 more item - rs62617809 CLASSIFICATION record, Unknown - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.110-11T>C r.(=) p.(=) - likely benign g.153640412T>C g.154412075T>C - - RPL10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.110-6C>T r.(=) p.(=) - benign, likely benign g.153640417C>T g.154412080C>T TAZ(NM_000116.3):c.110-6C>T (, p.(=)) - DNASE1L1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.110-3del r.spl? p.? - likely benign g.153640420del g.154412083del TAZ(NM_001303465.1):c.165-3delC - RPL10_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 1i c.110-2A>G r.spl, r.[110_238del, (110_111del)] p.?, p.[Lys37_Gly80del, Lys37fs] - pathogenic g.153640421A>G g.154412084A>G 398-2A>G - TAZ_000054 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Ichida 2001, 1 more item - - Germline, Unknown - - - - - Johan den Dunnen
+/. 1 1i c.110-1G>C r.spl p.? - pathogenic g.153640422G>C g.154412085G>C IVS1-1G>C - TAZ_000023 CL 6 PubMed: Valianpour 2002, PubMed: Kuijpers 2004 - - Unknown - - - - - Johan den Dunnen
+/. 3 2 c.118A>G r.(?) p.(Asn40Asp), p.Asn40Asp - NA, pathogenic g.153640431A>G g.154412094A>G - - TAZ_000024 functional analysis yeast; y.Asn48Asp, MLCL normal; 37oC expression 0.30, 1 more item PubMed: Bowron 2014, PubMed: Claypool 2011, PubMed: Whited 2013, 1 more item - - In vitro (cloned), Unknown - - - - - Johan den Dunnen
-/. 1 2 c.123C>T r.(?) p.(His41=) - benign g.153640436C>T g.154412099C>T - - TAZ_000033 - - - rs368329470 Unknown - - - - - Johan den Dunnen
+/. 2 2 c.124del r.(?) p.(Leu42*) - pathogenic g.153640437del g.154412100del 123delC - TAZ_000032 CL 6 PubMed: Ichida 2001, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.127A>C r.(?) p.(Thr43Pro) - pathogenic g.153640440A>C g.154412103A>C - - TAZ_000049 - PubMed: Bachou 2009 - - Unknown - - - - - Johan den Dunnen
+/. 3 2 c.140_152del r.(?), r.140_152del p.Arg47Thrfs*32 - pathogenic g.153640453_153640465del g.154412116_154412128del 140_152del13 [GGGAGGTGCTGTA], 428del13 - TAZ_000055 CL 6, de novo from grandfather; CL 6 PubMed: D'Adamo 1997, PubMed: Vreeken 2000, PubMed: Schlame 2003, PubMed: Gonzalez 2005, 1 more item - - De novo, Unknown - - - - - Johan den Dunnen
?/. 1 - c.142G>A r.(?) p.(Glu48Lys) - VUS g.153640455G>A g.154412118G>A TAZ(NM_000116.3):c.142G>A (p.E48K) - TAZ_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.142G>C r.(?) p.(Glu48Gln) - VUS g.153640455G>C g.154412118G>C TAZ(NM_000116.3):c.142G>C (p.E48Q) - RPL10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 2 c.143delinsGG r.(?) p.(Glu48Glyfs*86) - pathogenic g.153640456delinsGG g.154412119delinsGG - - TAZ_000043 CL6/MLCL5 PubMed: Rigaud 2013 - - Germline - - - - - Johan den Dunnen
+/. 3 2 c.149T>C r.(?) p.(Leu50Pro) - pathogenic g.153640462T>C g.154412125T>C - - TAZ_000051 CL6/MLCL5 DB Barth Syndrome Foundation Bowles (Houston, USA), 2 more items - - Unknown - - - - - Johan den Dunnen
+/. 3 2 c.153C>G r.(?) p.(Tyr51*) - pathogenic g.153640466C>G g.154412129C>G C441G - TAZ_000017 CL 6 DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Yen 2008, 2 more items - rs104894941 Germline, Unknown - - - - - Johan den Dunnen
+/. 1 2 c.157dup r.(?) p.(Leu53Profs*81) - pathogenic g.153640470dup g.154412133dup - - TAZ_000052 - PubMed: Xing 2006 - - Unknown - - - - - Johan den Dunnen
+/. 1 2 c.161T>A r.(?) p.(Ile54Asn) - pathogenic g.153640474T>A g.154412137T>A - - TAZ_000064 - DB Barth Syndrome Foundation Bowles (Houston, USA) - - Unknown - - - - - Johan den Dunnen
+/. 1 2 c.163G>T r.(?) p.(Glu55*) - pathogenic g.153640476G>T g.154412139G>T - - TAZ_000066 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - - Unknown - - - - - Johan den Dunnen
+/. 3 2 c.170G>T r.(?) p.(Arg57Leu), p.Arg57Leu - NA, pathogenic g.153640483G>T g.154412146G>T - - TAZ_000067 CL 6, functional analysis yeast; y.Lys65Leu, CL reduced, MLCL raised, 37oC expression 0.30, 1 more item PubMed: Claypool 2011, PubMed: Whited 2013, PubMed: Kuijpers 2004, 1 more item - - Germline, In vitro (cloned), Unknown - - - - - Johan den Dunnen
+/. 1 2 c.171del r.171del p.Gly58Alafs*25 - pathogenic g.153640484del g.154412147del - - TAZ_000068 de novo from grandfather; CL6/MLCL5 PubMed: Johnston 1997, PubMed: Schlame 2003, PubMed: Gonzalez 2005, PubMed: Kirwin 2014 - - Unknown - - - - - Johan den Dunnen
+/. 1 2 c.185C>T r.(?) p.(Pro62Leu) - pathogenic g.153640498C>T g.154412161C>T - - TAZ_000069 - DB Barth Syndrome Foundation MGZ (Munchen, Germany) - - Unknown - - - - - Johan den Dunnen
+/. 3 2 c.207C>G r.(?) p.(His69Gln), p.His69Gln - NA, pathogenic g.153640520C>G g.154412183C>G - - TAZ_000019 CL6/MLCL5, functional analysis yeast; y.His77Gln, MLC raised, catalytically null DB Barth Syndrome Foundation - reported by family, PubMed: Claypool 2011, PubMed: Whited 2013, 1 more item - - Germline, In vitro (cloned), Unknown - - - - - Johan den Dunnen
+/., +?/. 2 2 c.208C>T r.(?) p.(Gln70*) - likely pathogenic, pathogenic g.153640521C>T g.154412184C>T - - TAZ_000070 TTN Arg1012X likely path DB Barth Syndrome Foundation Harvard Partners (USA), PubMed: Walsh 2017 - - Germline, Unknown - 1/740 cases - - - Johan den Dunnen
+/. 3 2 c.211T>C r.(?) p.(Ser71Pro), p.Ser71Pro - NA, pathogenic g.153640524T>C g.154412187T>C - - TAZ_000071 functional analysis yeast; y.Ser79Pro, MLCL raised, catalytically null DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), 2 more items - - In vitro (cloned), Unknown - - - - - Johan den Dunnen
+/. 1 2 c.216C>A r.(?) p.(Cys72*) - pathogenic g.153640529C>A g.154412192C>A - - TAZ_000072 CL6/MLCL5 DB Barth Syndrome Foundation Honeychurch/Williams (Bristol, UK) - - Unknown - - - - - Johan den Dunnen
+/. 1 2 c.222C>G r.(?) p.(Asp74Glu) - pathogenic g.153640535C>G g.154412198C>G - - TAZ_000073 - DB Barth Syndrome Foundation - reported by family - - Unknown - - - - - Johan den Dunnen
+/. 1 2 c.223G>C r.(?) p.(Asp75His) - pathogenic g.153640536G>C g.154412199G>C - - TAZ_000074 de novo from mother DB Barth Syndrome Foundation - reported by family - - De novo - - - - - Johan den Dunnen
+/. 1 2 c.227del r.(?) p.(Pro76Leufs*7) - pathogenic g.153640540del g.154412203del - - TAZ_000075 - PubMed: Kim 2013 - - Unknown - - - - - Johan den Dunnen
+/. 1 2 c.236G>A r.236g>a p.Trp79* - pathogenic g.153640549G>A g.154412212G>A - - TAZ_000076 de novo gr'grandfather; CL6/MLCL5 PubMed: Schlame 2003, PubMed: Gonzalez 2005, PubMed: Kirwin 2014 - - De novo - - - - - Johan den Dunnen
+/. 5 2 c.238G>A r.(?), r.spl, r.[238_239ins238+1_238+36, =, 110_238del, ..] p.(Gly80Arg), p.Gly80Arg, p.[Gly80Ser_Ile81ins(12), =, Lys37_Gly80delinsArg] - NA, pathogenic g.153640551G>A g.154412214G>A - - TAZ_000077, TAZ_000078 CL6/MLCL5, RNA 0.81/0.05/0.08 and some other; CL6/MLCL5, RNA 0.82/0.07/0.04 and some other; CL6/MLCL5, 1 more item Miller 2005 (ACC2005 Poster1142-245), DB Barth Syndrome Foundation Pennock/Williams (Bristol, UK), 2 more items - - Germline, In vitro (cloned), Unknown - - - - - Johan den Dunnen
+/. 2 2i c.238+2T>G r.[110_238del, 238_239ins238+1_238+36, ..], r.[110_238del] p.Lys37_Gly80del, p.[Lys37_Gly80del, Gly80Ser_Ile81ins(12)] - pathogenic g.153640553T>G g.154412216T>G - - TAZ_000053 CL6/MLCL5, RNA 0.52/0.15 and some other; CL6/MLCL5 PubMed: Johnston 1997, PubMed: Schlame 2003, PubMed: Gonzalez 2005,, PubMed: Kirwin 2014 - - Unknown - - - - - Johan den Dunnen
-/. 1 - c.238+28G>A r.(=) p.(=) - benign g.153640579G>A g.154412242G>A TAZ(NM_000116.3):c.238+28G>A - TAZ_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 2i c.239-26C>A r.(=) p.(=) - benign g.153641518C>A g.154413181C>A - - TAZ_000079 1 more item Taylor 2011 (Cardiogenetics 1:9-12) - rs199809512 Unknown - - - - - Johan den Dunnen
+/. 1 2i c.239-1G>A r.spl p.? - pathogenic g.153641543G>A g.154413206G>A - - TAZ_000056 CL 6 PubMed: Bione 1996, PubMed: D'Adamo 1997 - - Unknown - - - - - Johan den Dunnen
+/. 3 2i c.239-1G>C r.spl p.? - pathogenic g.153641543G>C g.154413206G>C 527-1C - TAZ_000057 CL6/MLCL5 PubMed: Bione 1996, PubMed: Vreeken 2000, PubMed: D'Adamo 1997, PubMed: van Werkhoven 2006 - - Unknown - - - - - Johan den Dunnen
+/. 2 3 c.239G>A r.(?), r.spl? p.(Gly80Glu), p.Gly80Glu - NA, pathogenic g.153641544G>A g.154413207G>A - - TAZ_000080, TAZ_000081 1 more item PubMed: Claypool 2011, PubMed: Whited 2013, 1 more item - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 3 c.239_240insC r.(?) p.(Ile81Aspfs*53) - pathogenic g.153641544_153641545insC g.154413207_154413208insC G527insC - TAZ_000061 CL 6 PubMed: Valianpour 2002 - - Unknown - - - - - Johan den Dunnen
+/. 1 2i_5i c.(238+1_239-1)_(460+1_461-1)del r.(del) p.? - pathogenic g.153641543_153642528del - Ex3_Ex5del - TAZ_000000 1 more item DB Barth Syndrome Foundation - reported by family - - De novo - - - - - Johan den Dunnen
+/. 2 3 c.245T>C r.(?) p.(Leu82Pro), p.Leu82Pro - NA, pathogenic g.153641550T>C g.154413213T>C - - TAZ_000082 de novo from grandmother, functional analysis yeast; y.Leu90Pro, MLCL raised; functional hypomorphic PubMed: Claypool 2011, PubMed: Whited 2013, PubMed: Gonzalez 2005 - - De novo, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 3 c.253C>T r.(?) p.(Arg85Cys) - pathogenic g.153641558C>T g.154413221C>T - - TAZ_000083 - Exome Variant Server - - Unknown - - - - - Johan den Dunnen
?/. 2 - c.254G>A r.(?) p.(Arg85His) - VUS g.153641559G>A g.154413222G>A TAZ(NM_000116.3):c.254G>A (p.R85H) - TAZ_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 3 c.264G>A r.(?) p.(Trp88*) - pathogenic g.153641569G>A g.154413232G>A - - TAZ_000084 - DB Barth Syndrome Foundation AKrentz (Prevention Genetics, USA) - - Unknown - - - - - Johan den Dunnen
+/. 4 3 c.280C>A r.(?) p.(Arg94Ser), p.Arg94Ser - NA, pathogenic g.153641585C>A g.154413248C>A - - TAZ_000037 CL6/MLCL5, functional analysis yeast; y.Arg102Ser, MLCL raised, catalytically null DB Barth Syndrome Foundation - reported by family, PubMed: Claypool 2011, PubMed: Whited 2013, 2 more items - rs104894942 Germline, In vitro (cloned), Unknown - - - - - Johan den Dunnen
+/. 2 3 c.280C>G r.(?) p.(Arg94Gly) - pathogenic g.153641585C>G g.154413248C>G - - TAZ_000085 de novo from grandparent, de novo from grandparent; CL6/MLCL5 DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Steward 2010 - - De novo - - - - - Johan den Dunnen
+/., +?/. 9 3 c.280C>T r.(?), r.280c>u p.(Arg94Cys), p.Arg94Cys - likely pathogenic, NA, pathogenic g.153641585C>T g.154413248C>T TAZ(NM_000116.3):c.280C>T (p.R94C) - TAZ_000007 CL6/MLCL5, de novo from grandfather, seen in mRNA; CL6/MLCL5, VKGL data sharing initiative Nederland, 1 more item DB Barth Syndrome Foundation Honeychurch/Williams (Bristol, UK), PubMed: Mazurova 2013, 6 more items - - CLASSIFICATION record, De novo, Germline, In vitro (cloned), Unknown - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/. 1 3 c.281delinsCT r.(?) p.(Arg94Profs*40) - pathogenic g.153641586delinsCT g.154413249delinsCT G>CT - TAZ_000086 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - - Germline - - - - - Johan den Dunnen
+/. 12 3 c.281G>A r.(?) p.(Arg94His) - pathogenic g.153641586G>A g.154413249G>A TAZ(NM_000116.3):c.281G>A (p.R94H) - TAZ_000042 CL6/MLCL5, de novo from grandparent; CL6/MLCL5, VKGL data sharing initiative Nederland DB Barth Syndrome Foundation - reported by family, DB Barth Syndrome Foundation Bowles (Houston, USA), 6 more items - - CLASSIFICATION record, De novo, Germline, Unknown - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 3 c.284+1dup r.spl? p.(Thr96Aspfs*37) - pathogenic g.153641590dup g.154413253dup - - TAZ_000090 CL6/MLCL5 PubMed: Ferri 2013 - - Germline - - - - - Johan den Dunnen
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