Full data view for gene PDHA1

Information The variants shown are described using the NM_000284.3 transcript reference sequence.

150 entries on 2 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     
-/. - c.-88G>A r.(=) p.(=) Parent #1 - benign g.19362068G>A g.19343950G>A - - PDHA1_000010 - - - rs5955751 Germline - frequency up to 10% - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.-20G>A r.(?) p.(=) Unknown - VUS g.19362136G>A g.19344018G>A PDHA1(NM_000284.4):c.-20G>A - PDHA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.57+1663del r.(=) p.(=) Unknown - benign g.19363875del g.19345757del PDHA1(NM_000284.4):c.57+1663delC - PDHA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57+2410dup r.(=) p.(=) Unknown - likely benign g.19364622dup - PDHA1(NM_001173454.2):c.58-6dup - MAP3K15_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57+2455T>A r.(=) p.(=) Unknown - likely benign g.19364667T>A g.19346549T>A PDHA1(NM_001173454.1):c.97T>A (p.S33T) - MAP3K15_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57+2482G>A r.(=) p.(=) Unknown - likely benign g.19364694G>A g.19346576G>A PDHA1(NM_001173454.1):c.124G>A (p.(Gly42Ser)) - PDHA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.57+2513C>G r.(=) p.(=) Unknown - VUS g.19364725C>G g.19346607C>G PDHA1(NM_000284.4):c.57+2513C>G - PDHA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.57+2531T>A r.(=) p.(=) Unknown - VUS g.19364743T>A g.19346625T>A - - MAP3K15_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58-395C>A r.(=) p.(=) Unknown - likely benign g.19367035C>A - PDHA1(NM_000284.4):c.58-395C>A - MAP3K15_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.65G>C r.(?) p.(Arg22Thr) Maternal (inferred) ACMG VUS g.19367437G>C g.19349319G>C - - PDHA1_000029 - PubMed: Tumienė 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29286531-Pat24 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - 1 Johan den Dunnen
-?/. - c.69G>A r.(?) p.(Val23=) Unknown - likely benign g.19367441G>A g.19349323G>A PDHA1(NM_001173454.2):c.183G>A (p.V61=) - PDHA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97G>C r.(?) p.(Asp33His) Unknown - likely benign g.19367469G>C - PDHA1(NM_000284.4):c.97G>C (p.D33H) - MAP3K15_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117+6A>C r.(=) p.(=) Unknown - likely benign g.19367495A>C g.19349377A>C PDHA1(NM_000284.3):c.117+6A>C (p.(=)) - MAP3K15_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.207G>C r.(?) p.(Gln69His) Unknown - VUS g.19368144G>C g.19350026G>C PDHA1(NM_000284.4):c.207G>C (p.Q69H) - MAP3K15_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.214C>T r.(?) p.(Arg72Cys) Unknown - pathogenic g.19368151C>T g.19350033C>T 328C>T - PDHA1_000041 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio24 PubMed: Zhu 2015 - M - Israel - - - - - 1 Johan den Dunnen
?/. - c.215G>A r.(?) p.(Arg72His) Unknown - VUS g.19368152G>A g.19350034G>A - - PDHA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.232G>A r.(?) p.(Ala78Thr) Maternal (confirmed) - likely pathogenic g.19368169G>A g.19350051G>A - - PDHA1_000048 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat73 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.262C>T r.(?) p.(Arg88Cys) Maternal (confirmed) - pathogenic (dominant) g.19368199C>T g.19350081C>T - - PDHA1_000033 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat19 PubMed: Pronicka 2016 - M - Poland - - - - - 1 Johan den Dunnen
?/. - c.291G>A r.spl? p.(?) Unknown - VUS g.19368228G>A g.19350110G>A - - PDHA1_000034 mosaic PubMed: Pronicka 2016 - - De novo - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat68 PubMed: Pronicka 2016 no family history M - Poland - - - - - 1 Johan den Dunnen
-?/. - c.292G>A r.(?) p.(Glu98Lys) Unknown - likely benign g.19369399G>A - - - MAP3K15_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.328delinsAGA r.(?) p.(Pro110Argfs*71) Unknown - pathogenic g.19369435delinsAGA g.19351317delinsAGA NM_000284.3:c.328delinsAGA (Pro110Argfs*71) - PDHA1_000031 - PubMed: de Ligt 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 23033978-Trio59 PubMed: de Ligt 2012 - F - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.364G>C r.(?) p.(Gly122Arg) Unknown - likely pathogenic g.19369471G>C g.19351353G>C - - MAP3K15_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.380G>A r.(?) p.(Arg127Gln) Parent #1 - pathogenic g.19369487G>A g.19351369G>A R127Q - PDHA1_000050 - PubMed: Legati 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - mitochondrial NGSP31 PubMed: Legati 2016 family, affected female F - - - - - - - 1 Daniele Ghezzi
+?/. 4 c.394C>T r.(?) p.(Arg132*) Unknown ACMG likely pathogenic (dominant) g.19369501C>T - - - PDHA1_000045 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - PDHAD 180764 - - F no Germany - - - - - 1 Andreas Laner
+/. - c.394C>T r.(?) p.(Arg132*) Unknown - pathogenic g.19369501C>T - PDHA1(NM_001173454.1):c.508C>T (p.(Arg170*)) - PDHA1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406G>A r.(?) p.(Ala136Thr) Unknown - likely benign g.19369513G>A g.19351395G>A PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406G>A r.(?) p.(Ala136Thr) Unknown - likely benign g.19369513G>A g.19351395G>A PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406G>A r.(?) p.(Ala136Thr) Unknown - VUS g.19369513G>A g.19351395G>A PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406G>A r.(?) p.(Ala136Thr) Unknown - likely benign g.19369513G>A - PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406G>A r.(?) p.(Ala136Thr) Unknown - likely benign g.19369513G>A - PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.427G>A r.(?) p.(Gly143Arg) Unknown - likely benign g.19371208G>A - PDHA1(NM_000284.3):c.427G>A (p.(Ala143Thr)) - MAP3K15_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.448G>A r.(?) p.(Gly150Arg) Unknown - likely pathogenic g.19371229G>A g.19353111G>A - - PDHA1_000012 - PubMed: Chao 2016, Journal: Chao 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - EE 26931468-Pat2 PubMed: Chao 2016, Journal: Chao 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United States - 00y10m - - - 1 Johan den Dunnen
+?/. - c.460C>G r.spl p.(His154Asp) Unknown - pathogenic (recessive) g.19371241C>G g.19353123C>G - - PDHA1_000040 - - - - De novo - - - - - DNA SEQ-NG - WES PDHAD - - - F no China Chinese - - - - 1 Yan Cai
+/. 5 c.483=/C>T r.[419_510del,483C>T,483=] p.[Arg141AlafsTer11,Tyr481=] Unknown - likely pathogenic (dominant) g.19371264=/C>T g.19353146=/C>T - - PDHA1_000055 proven somatic mosiaicsm in fibroblasts and hair roots; effect on splicing in 0.44 RNA molecules PubMed: Boichard 2008 - - Somatic - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat3 PubMed: Boichard 2008 - M no France - - - - - 1 Johan den Dunnen
+?/. 5 c.483C>T r.(?) p.(Tyr161=) Unknown - likely pathogenic g.19371264C>T g.19353146C>T - - PDHA1_000043 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4592 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. 5 c.483C>T r.[419_510del,483C>T] p.[Arg141AlafsTer11,Tyr481=] Maternal (inferred) - likely pathogenic (dominant) g.19371264C>T g.19353146C>T - - PDHA1_000043 effect on splicing in 0.55 RNA molecules PubMed: Boichard 2008 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - PDHAD Pat1 PubMed: Boichard 2008 - M - France - - - - - 1 Johan den Dunnen
+/. 5 c.498C>T r.spl p.? Unknown ACMG pathogenic (dominant) g.19371279C>T g.19353161C>T - - PDHA1_000054 - - ClinVar-1188095 rs2147178249 Germline - - - - - DNA SEQ-NG-I blood WES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. 5 c.498C>T r.[419_510del,498C>T] p.[Arg141AlafsTer11,Ile486=] Unknown - likely pathogenic (dominant) g.19371279C>T g.19353161C>T - - PDHA1_000054 effect on splicing in 0.57 RNA molecules PubMed: Boichard 2008 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - ID Pat2 PubMed: Boichard 2008 - F yes France - - - - - 1 Johan den Dunnen
-?/. - c.510+26T>C r.(=) p.(=) Unknown - likely benign g.19371317T>C g.19353199T>C PDHA1(NM_000284.4):c.510+26T>C - PDHA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.513G>A r.(?) p.(Val171=) Unknown - likely benign g.19372611G>A - PDHA1(NM_001173454.1):c.627G>A (p.V209=) - MAP3K15_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.516C>T r.(?) p.(=) Unknown - VUS g.19372614C>T - PDHA1(NM_000284.4):c.516C>T (p.P172=) - MAP3K15_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.517C>G r.(?) p.(Leu173Val) Unknown - VUS g.19372615C>G g.19354497C>G PDHA1(NM_000284.4):c.517C>G (p.L173V) - MAP3K15_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.555A>G r.(?) p.(Gly185=) Unknown - pathogenic g.19372653A>G - PDHA1(NM_000284.3):c.555A>G (p.(=)) - MAP3K15_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.604-15C>T r.(=) p.(=) Parent #1 - benign g.19373452C>T g.19355334C>T - - PDHA1_000009 - - - rs13440874 Germline - frequency up to 12% - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.604-10C>T r.(=) p.(=) Unknown - benign g.19373457C>T g.19355339C>T PDHA1(NM_001173454.1):c.718-10C>T - MAP3K15_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.631G>A r.(?) p.(Ala211Thr) Unknown - VUS g.19373494G>A - PDHA1(NM_000284.4):c.631G>A (p.A211T) - MAP3K15_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.685A>G r.(?) p.(Met229Val) Unknown ACMG VUS g.19373548A>G g.19355430A>G - - PDHA1_000038 ACMG grading: PM2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
?/. - c.692C>A r.(?) p.(Thr231Lys) Unknown - VUS g.19373555C>A g.19355437C>A - - PDHA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693G>A r.(?) p.(Thr231=) Unknown - likely benign g.19373556G>A g.19355438G>A PDHA1(NM_001173454.1):c.807G>A (p.T269=) - MAP3K15_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708G>A r.(?) p.(Ala236=) Unknown - likely benign g.19373571G>A g.19355453G>A PDHA1(NM_001173454.1):c.822G>A (p.A274=) - MAP3K15_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.749C>T r.(?) p.(Pro250Leu) Unknown ACMG pathogenic (dominant) g.19373612C>T g.19355494C>T NM_001173454.2:c.863C>T (Pro288Leu) - PDHA1_000046 ACMG PS2, PM1, PM2, PP2, PP3 PubMed: Marinakis 2021 - rs1602227679 De novo - - - - - DNA SEQ, SEQ-NG - WES ? 8030 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
-?/. - c.759+10C>G r.(=) p.(=) Unknown - likely benign g.19373632C>G - PDHA1(NM_000284.4):c.759+10C>G, PDHA1(NM_001173454.1):c.873+10C>G - MAP3K15_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.759+10C>G r.(=) p.(=) Unknown - likely benign g.19373632C>G - PDHA1(NM_000284.4):c.759+10C>G, PDHA1(NM_001173454.1):c.873+10C>G - MAP3K15_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 7i c.759+40_759+45dup r.(=) p.(=) Maternal (inferred) - likely benign g.19373662_19373667dup g.19355544_19355549dup 759+25_759+26insGGCCAA - PDHA1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 7i c.759+40_759+45dup r.(=) p.(=) Maternal (inferred) - likely benign g.19373662_19373667dup g.19355544_19355549dup 759+25_759+26insGGCCAA - PDHA1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.784G>C r.(?) p.(Val262Leu) Unknown ACMG likely pathogenic g.19373828G>C g.19355710G>C - - PDHA1_000008 analysis of the mother suggests de novo status in the affected patient - - - De novo yes - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.788G>C r.(?) p.(Arg263Pro) Unknown - VUS g.19373832G>C g.19355714G>C PDHA1(NM_001173454.1):c.902G>C (p.R301P) - PDHA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 8 c.795A>G r.(?) p.(=) Parent #1 - likely benign g.19373839A>G g.19355721A>G A265A - PDHA1_000030 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
?/. - c.796A>G r.(?) p.(Thr266Ala) Unknown ACMG VUS g.19373840A>G g.19355722A>G - - PDHA1_000039 ACMG grading: BP4,PM2 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-?/. - c.798A>G r.(?) p.(Thr266=) Unknown - likely benign g.19373842A>G - PDHA1(NM_001173454.1):c.912A>G (p.T304=) - MAP3K15_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.825_830del r.(?) p.(Lys277_Gly278del) Parent #1 - VUS g.19373869_19373874del g.19355751_19355756del - - PDHA1_000005 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.831+15C>T r.(=) p.(=) Parent #1 - benign g.19373890C>T g.19355772C>T - - PDHA1_000006 - - - rs190157093 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.831+15C>T r.(=) p.(=) Unknown - likely benign g.19373890C>T g.19355772C>T PDHA1(NM_001173454.2):c.945+15C>T - PDHA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.832G>A r.(spl?) p.(Gly278Arg) Unknown - pathogenic g.19375770G>A g.19357652G>A - - PDHA1_000004 - - - - De novo - - - - - DNA SEQ, SEQ-NG-I - - PDHAD - - - M no Spain - - - - - 1 Claudio Asencio Salcedo
-?/. - c.844A>C r.(?) p.(Met282Leu) Unknown - likely benign g.19375782A>C g.19357664A>C PDHA1(NM_001173454.1):c.958A>C (p.M320L) - PDHA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.844A>C r.(?) p.(Met282Leu) Parent #1 - VUS g.19375782A>C g.19357664A>C M282L - PDHA1_000022 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.844A>C r.(?) p.(Met282Leu) Parent #1 - benign g.19375782A>C g.19357664A>C - - PDHA1_000022 46 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229137 Germline - 46/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 46 Mohammed Faruq
-/. - c.844A>C r.(?) p.(Met282Leu) Unknown - benign g.19375782A>C g.19357664A>C - - PDHA1_000022 19 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229137 Germline - 19/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
+/. - c.858_861dup r.(?) p.(Arg288Leufs*10) Unknown - pathogenic (dominant) g.19375796_19375799dup g.19357678_19357681dup 856_859dupACTT - PDHA1_000036 - PubMed: Pronicka 2016 - - De novo - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat56 PubMed: Pronicka 2016 no family history F - Poland - - - - - 1 Johan den Dunnen
+/. - c.858_861dup r.(?) p.(Arg288LeufsTer10) Unknown - pathogenic g.19375796_19375799dup - PDHA1(NM_001173454.2):c.972_975dupTTAC (p.R326Lfs*10) - PDHA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.883A>G r.(?) p.(Ser295Gly) Unknown - VUS g.19375821A>G - PDHA1(NM_001173454.1):c.997A>G (p.S333G) - MAP3K15_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.905G>A r.(?) p.(Arg302His) Unknown - VUS g.19377039G>A g.19358921G>A - - PDHA1_000032 - - - - De novo - - - - - DNA SEQ-NG-IT - WES ADHD - - - - - Saudi Arabia Arab - - - - 1 Nada Al Tassan
+/. - c.933_935del r.(?) p.(Arg311del) Unknown - pathogenic (dominant) g.19377067_19377069del g.19358949_19358951del - - PDHA1_000035 - PubMed: Pronicka 2016 - - De novo - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat66 PubMed: Pronicka 2016 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.936_939del r.(?) p.(Ser312ArgfsTer13) Unknown - pathogenic g.19377070_19377073del - PDHA1(NM_001173454.2):c.1050_1053delTAAG (p.S350Rfs*13) - MAP3K15_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.937_940dup r.(?) p.(Ser314LysfsTer3) Unknown - pathogenic (dominant) g.19377071_19377074dup g.19358953_19358956dup - - PDHA1_000047 - PubMed: Gostain 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? CMC12 PubMed: Gostain 2020 - F - Canada - - - - - 1 Johan den Dunnen
?/. - c.972G>A r.(?) p.(Met324Ile) Unknown - VUS g.19377106G>A - PDHA1(NM_000284.4):c.972G>A (p.(Met324Ile)) - MAP3K15_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.999A>C r.(?) p.(Glu333Asp) Unknown - benign g.19377133A>C g.19359015A>C PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D) - PDHA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.999A>C r.(?) p.(Glu333Asp) Unknown - VUS g.19377133A>C g.19359015A>C PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D) - PDHA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1000_1002del r.(?) p.(Glu334del) Unknown ACMG likely pathogenic g.19377134_19377136del g.19359016_19359018del - - PDHA1_000042 - - - - De novo yes - - - - DNA SEQ-NG blood WGS PDHAD iw138 - - F no China Chinese - - - - 1 Wenjuan Qiu
?/. - c.1006_1008+23dup r.spl? p.? Unknown - VUS g.19377140_19377165dup g.19359022_19359047dup PDHA1(NM_000284.3):c.1005_1006insAAGGTACAGTCACTTGTTCATGGTGG (p.?) - MAP3K15_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10i c.1009-31_1009-8del r.spl p.? Unknown - VUS g.19377576_19377599del g.19359458_19359481del - - PDHA1_000044 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3955 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.1021dup r.(?) p.(Glu341GlyfsTer7) Unknown - pathogenic (dominant) g.19377619dup g.19359501dup 1134dupG V378fs (NM_001173454.1 ?) - PDHA1_000052 - PubMed: Boissel 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 051-140-ZGS PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
+/. - c.1025_1032del r.(?) p.(Val342Glyfs*3) Unknown - pathogenic g.19377623_19377630del g.19359505_19359512del - - PDHA1_000037 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-?/. - c.1062G>T r.(?) p.(Thr354=) Unknown - likely benign g.19377660G>T - PDHA1(NM_001173454.1):c.1176G>T (p.T392=) - MAP3K15_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1104_1122dup r.(?) p.(Phe375Leufs*8) Unknown ACMG likely pathogenic (dominant) g.19377702_19377720dup g.19359584_19359602dup - - PDHA1_000053 ACMG: PVS1- strong,PM2-supporting, PS2-supporting - - - De novo - - - - - DNA SEQ-NG-I Blood - PDHAD 332388 - - F no Germany - - - - - 1 Andreas Laner
-?/. - c.1114G>A r.(?) p.(Asp372Asn) Unknown - likely benign g.19377712G>A g.19359594G>A PDHA1(NM_000284.3):c.1114G>A (p.(Asp372Asn)), PDHA1(NM_001173454.1):c.1228G>A (p.D410N) - MAP3K15_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114G>A r.(?) p.(Asp372Asn) Unknown - likely benign g.19377712G>A - PDHA1(NM_000284.3):c.1114G>A (p.(Asp372Asn)), PDHA1(NM_001173454.1):c.1228G>A (p.D410N) - MAP3K15_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1132C>T r.(?) p.(Arg378Cys) Parent #1 - pathogenic g.19377730C>T g.19359612C>T - - PDHA1_000007 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.1133G>A r.(?) p.(Arg378His) Unknown - pathogenic g.19377731G>A g.19359613G>A - - MAP3K15_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1142_1145dup r.(?) p.(Trp383Serfs*6) Unknown ACMG pathogenic g.19377740_19377743dup g.19359622_19359625dup - - PDHA1_000011 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - PDHAD - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.1142_1145dup r.(?) p.(Trp383Serfs*6) Unknown - likely pathogenic (dominant) g.19377740_19377743dup g.19359622_19359625dup - - PDHA1_000011 - - - - De novo - - - - - DNA SEQ-NG - WES ID 185P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.1142_1145dup r.(?) p.(Trp383SerfsTer6) Unknown - pathogenic g.19377740_19377743dup - PDHA1(NM_001173454.2):c.1256_1259dupATCA (p.W421Sfs*6) - PDHA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1149G>A r.(?) p.(Trp383Ter) Unknown - likely pathogenic (dominant) g.19377747G>A g.19359629G>A - - PDHA1_000049 - PubMed: Poli 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat133 PubMed: Poli 2024 - F - Chile - - - - - 1 Johan den Dunnen
-?/. - c.1159A>C r.(?) p.(Lys387Gln) Unknown - likely benign g.19377757A>C - PDHA1(NM_000284.4):c.1159A>C (p.(Lys387Gln)) - MAP3K15_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1162T>C r.(?) p.(Ser388Pro) Maternal (inferred) - pathogenic g.19377760T>C g.19359642T>C S388P - PDHA1_000051 - PubMed: Legati 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - mitochondrial NGSP21 PubMed: Legati 2016 - M - - - - - - - 1 Daniele Ghezzi
-?/. - c.1170T>C r.(?) p.(Ser390=) Unknown - likely benign g.19377768T>C - PDHA1(NM_001173454.1):c.1284T>C (p.S428=) - MAP3K15_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.*1132C>G r.(=) p.(=) Parent #1 - VUS g.19378903C>G g.19360785C>G 2331G>C (R777S) - MAP3K15_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.*1151G>A r.(=) p.(=) Unknown - VUS g.19378922G>A - MAP3K15(NM_001001671.3):c.3887C>T (p.A1296V) - MAP3K15_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1682T>C r.(=) p.(=) Unknown - likely benign g.19379453T>C g.19361335T>C MAP3K15(NM_001001671.3):c.3857+4A>G (p.?) - MAP3K15_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.*1869G>C r.(=) p.(=) Parent #1 - VUS g.19379640G>C g.19361522G>C 2176C>G (Q726E) - MAP3K15_000003 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
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