Full data view for gene D2HGDH

Information The variants shown are described using the NM_152783.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1i_6_ c.(?_-92-1)_(853+1_854-1)del pathogenic r.0? p.0? Both (homozygous) g.(?_242674547)_(242684293_242689565)del - del ex1-6 - D2HGDH_015028 MLPA, Ex 2 and 6 deletion PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ, MLPA - - D2HGA-1 - PubMed: Kranendijk 2010 - M - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+/. 2i c.293-23A>G pathogenic r.spl ? Parent #1 g.242680425A>G - - - D2HGDH_015015 - PubMed: Struys 2005 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Struys 2005 - F - United States - - 0 - - 1 Gajja Salomons
-/. - c.293-18A>G benign r.(=) p.(=) Unknown g.242680430A>G - D2HGDH:c.293-18A>G - D2HGDH_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.325_326dup pathogenic r.(?) p.(Glu110Argfs*18) Parent #1 g.242680480_242680481dup - 326_327dupTC - D2HGDH_015005 - PubMed: Misra 2005 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Misra 2005 - F - United States - - 0 - - 1 Gajja Salomons
+/. 3 c.325_326dup pathogenic r.(?) p.(Glu110Argfs*18) Parent #1 g.242680480_242680481dup - 326_327dupTC - D2HGDH_015005 - PubMed: Misra 2005 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Misra 2005 - F - United States - - 0 - - 1 Gajja Salomons
+/. 3 c.325_326dup pathogenic r.(?) p.(Glu110Argfs*18) Parent #1 g.242680480_242680481dup - 326_327dupTC - D2HGDH_015005 - PubMed: Misra 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Misra 2005 - - - United States - - 0 - - 1 Gajja Salomons
+/. 3 c.326C>G pathogenic r.(?) p.(Ser109Trp) Parent #1 g.242680481C>G - - - D2HGDH_015007 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - Italy - - 0 - - 1 Gajja Salomons
+/. 3 c.326C>G pathogenic r.(?) p.(Ser109Trp) Parent #2 g.242680481C>G - - - D2HGDH_015007 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - Italy - - 0 - - 1 Gajja Salomons
+/. 3 c.326C>G pathogenic r.(?) p.(Ser109Trp) Parent #1 g.242680481C>G - - - D2HGDH_015007 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - - - Italy - - 0 - - 1 Gajja Salomons
?/? 4 c.373G>A VUS r.(?) p.(Ala125Thr) Parent #1 g.242681872G>A - - - D2HGDH_015036 - PubMed: 21384162 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: 21384162 - - - - - - 0 - - 1 Gajja Salomons
+/. 4 c.381C>A pathogenic r.(?) p.(Asn127Lys) Both (homozygous) g.242681880C>A - - - D2HGDH_015011 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - F - Argentina - - 0 - - 1 Gajja Salomons
+/. 4 c.392G>T pathogenic r.(?) p.(Gly131Val) Both (homozygous) g.242681891G>T - - - D2HGDH_015018 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - Poland - - 0 - - 1 Gajja Salomons
+/. 4 c.392G>T pathogenic r.(?) p.(Gly131Val) Parent #1 g.242681891G>T - - - D2HGDH_015018 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - Poland - - 0 - - 1 Gajja Salomons
-?/. - c.423C>T likely benign r.(=) p.(=) Unknown g.242681922C>T - D2HGDH:c.423C>T (P141=) - D2HGDH_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.440T>G pathogenic r.(?) p.(Ile147Ser) Parent #2 g.242681939T>G - - - D2HGDH_015016 - PubMed: Struys 2004 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Struys 2005 - F - United States - - 0 - - 1 Gajja Salomons
+/. 4 c.457A>G pathogenic r.(?) p.(Met153Val) Parent #2 g.242681956A>G - - - D2HGDH_015008 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - Italy - - 0 - - 1 Gajja Salomons
+/. 4 c.457A>G pathogenic r.(?) p.(Met153Val) Parent #2 g.242681956A>G - - - D2HGDH_015008 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - M - Italy - - 0 - - 1 Gajja Salomons
+/. 4 c.458T>C pathogenic r.(?) p.(Met153Thr) Both (homozygous) g.242681957T>C - 458T>C - D2HGDH_015042 - PubMed: Haliloglu 2009 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Haliloglu 2009 - M - Turkey - - 0 - - 1 Gajja Salomons
+/. 5 c.505C>T pathogenic r.(?) p.(Gln169*) Both (homozygous) g.242683051C>T - - - D2HGDH_015014 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - F - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+/. 5 c.515G>A pathogenic r.(?) p.(Cys172Tyr) Both (homozygous) g.242683061G>A - - - D2HGDH_015030 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - F - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+/. 5 c.515G>A pathogenic r.(?) p.(Cys172Tyr) Parent #1 g.242683061G>A - - - D2HGDH_015030 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+/. 5 c.515G>A pathogenic r.(?) p.(Cys172Tyr) Parent #1 g.242683061G>A - - - D2HGDH_015030 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - M - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+/. 5 c.515G>A pathogenic r.(?) p.(Cys172Tyr) Both (homozygous) g.242683061G>A - - - D2HGDH_015030 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
-?/. - c.551G>A likely benign r.(?) p.(Arg184Gln) Unknown g.242683097G>A - D2HGDH:NM_152783.3:c.551G>A - D2HGDH_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.566C>T pathogenic r.(?) p.(Pro189Leu) Both (homozygous) g.242683112C>T - 566C>T - D2HGDH_015033 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - United States - - 0 - - 1 Gajja Salomons
+/. 5 c.566C>T pathogenic r.(?) p.(Pro189Leu) Parent #1 g.242683112C>T - 566C>T - D2HGDH_015033 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - United States - - 0 - - 1 Gajja Salomons
+/. 5 c.614C>T pathogenic r.(?) p.(Ala205Val) Parent #1 g.242683160C>T - - - D2HGDH_015019 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - Poland - - 0 - - 1 Gajja Salomons
+/. 5 c.642del pathogenic r.(?) p.(Arg215Aspfs*25) Parent #2 g.242683188del - 642delT - D2HGDH_015013 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - United States - - 0 - - 1 Gajja Salomons
+/. 5 c.642del pathogenic r.(?) p.(Arg215Aspfs*25) Parent #1 g.242683188del - 642delT - D2HGDH_015013 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - M - United States - - 0 - - 1 Gajja Salomons
-/. - c.685-9T>C benign r.(=) p.(=) Unknown g.242684115T>C - D2HGDH:c.685-9T>C - D2HGDH_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5i c.685-2A>G pathogenic r.spl p.? Both (homozygous) g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Struys 2005 - F - Israel - - 0 - - 1 Gajja Salomons
+/. 5i c.685-2A>G pathogenic r.spl p.? Parent #1 g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Struys 2005 - M - Israel - - 0 - - 1 Gajja Salomons
+/. 5i c.685-2A>G pathogenic r.spl p.? Both (homozygous) g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Struys 2005 - M - Israel - - 0 - - 1 Gajja Salomons
+/. 5i c.685-2A>G pathogenic r.spl p.? Parent #1 g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Struys 2005 - F - Israel - - 0 - - 1 Gajja Salomons
+/. 5i c.685-2A>G pathogenic r.spl p.? Both (homozygous) g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Struys 2005 - M - United States - - 0 - - 1 Gajja Salomons
+/. 6 c.692C>T pathogenic r.(?) p.(Ala231Val) Both (homozygous) g.242684131C>T - - - D2HGDH_015022 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - Denmark - - 0 - - 1 Gajja Salomons
+/. 6 c.692C>T pathogenic r.(?) p.(Ala231Val) Parent #1 g.242684131C>T - - - D2HGDH_015022 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - Denmark - - 0 - - 1 Gajja Salomons
+/. 6 c.692C>T pathogenic r.(?) p.(Ala231Val) Parent #1 g.242684131C>T - - - D2HGDH_015022 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - M - Denmark - - 0 - - 1 Gajja Salomons
+/. 6 c.697G>A pathogenic r.(?) p.(Gly233Ser) Both (homozygous) g.242684136G>A - - - D2HGDH_015026 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - F - Canada - - 0 - - 1 Gajja Salomons
+/. 6 c.697G>A pathogenic r.(?) p.(Gly233Ser) Parent #1 g.242684136G>A - - - D2HGDH_015026 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - Canada - - 0 - - 1 Gajja Salomons
+/. 6 c.697G>A pathogenic r.(?) p.(Gly233Ser) Parent #1 g.242684136G>A - - - D2HGDH_015026 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - M - Canada - - 0 - - 1 Gajja Salomons
+/. 6i c.853+2T>C pathogenic r.spl p.? Parent #1 g.242684294T>C - - - D2HGDH_015012 IVS6+2T>C PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - United States - - 0 - - 1 Gajja Salomons
+/. 6i c.853+2T>C pathogenic r.spl p.? Parent #1 g.242684294T>C - - - D2HGDH_015012 IVS6+2T>C PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - United States - - 0 - - 1 Gajja Salomons
-/. - c.854-1200C>T benign r.(=) p.(=) Unknown g.242688366C>T - D2HGDH:c.854-1200C>T - D2HGDH_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 7 c.858C>A VUS r.(?) p.(Cys286*) Parent #2 g.242689570C>A - - - D2HGDH_015037 - PubMed: 21384162 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: 21384162 - - - - - - 0 - - 1 Gajja Salomons
-?/. - c.1063G>A likely benign r.(?) p.(Gly355Ser) Unknown g.242690726G>A - D2HGDH:c.1063G>A (G355S) - D2HGDH_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.1123G>T pathogenic r.(?) p.(Asp375Tyr) Parent #2 g.242690786G>T - - - D2HGDH_015006 - PubMed: Misra 2005 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Misra 2005 - F - United States - - 0 - - 1 Gajja Salomons
+/. 8 c.1123G>T pathogenic r.(?) p.(Asp375Tyr) Parent #2 g.242690786G>T - - - D2HGDH_015006 - PubMed: Misra 2005 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Misra 2005 - F - United States - - 0 - - 1 Gajja Salomons
+/. 8 c.1123G>T pathogenic r.(?) p.(Asp375Tyr) Parent #1 g.242690786G>T - - - D2HGDH_015006 - PubMed: Misra 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Misra 2005 - - - United States - - 0 - - 1 Gajja Salomons
+/. 8i_10_ c.(1140+1_1141-1)_(*1_?)del pathogenic r.? p.(0) Both (homozygous) g.(242690804_242695263)_(242707385_?)del - del ex9-10 - D2HGDH_015027 MLPA, Ex 9 and 10 deletion PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ, MLPA - - D2HGA-1 - PubMed: Kranendijk 2010 - F - Italy - - 0 - - 1 Gajja Salomons
-?/. - c.1183C>T likely benign r.(?) p.(Arg395Trp) Unknown g.242695306C>T - D2HGDH:NM_152783.3:c.1183C>T - D2HGDH_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.1195G>A pathogenic r.(?) p.(Val399Met) Parent #1 g.242695318G>A - - - D2HGDH_015031 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - F - Germany - - 0 - - 1 Gajja Salomons
+/. 9 c.1195G>A pathogenic r.(?) p.(Val399Met) Parent #1 g.242695318G>A - - - D2HGDH_015031 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - M - Germany - - 0 - - 1 Gajja Salomons
+/. 9 c.1200C>A pathogenic r.(?) p.(Tyr400*) Parent #1 g.242695323C>A - - - D2HGDH_015034 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - Norway - - 0 - - 1 Gajja Salomons
+/. 9 c.1200C>A pathogenic r.(?) p.(Tyr400*) Parent #1 g.242695323C>A - - - D2HGDH_015034 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - Norway - - 0 - - 1 Gajja Salomons
+/. 9 c.1256G>A pathogenic r.(?) p.(Arg419His) Both (homozygous) g.242695379G>A - - - D2HGDH_015010 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - F - United States - - 0 - - 1 Gajja Salomons
+/. 9 c.1256G>A pathogenic r.(?) p.(Arg419His) Parent #1 g.242695379G>A - - - D2HGDH_015010 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - United States - - 0 - - 1 Gajja Salomons
+/. 9 c.1256G>A pathogenic r.(?) p.(Arg419His) Parent #1 g.242695379G>A - - - D2HGDH_015010 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - M - United States - - 0 - - 1 Gajja Salomons
+/. 9 c.1276G>A pathogenic r.(?) p.(Ala426Thr) Parent #2 g.242695399G>A - - - D2HGDH_015020 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - Poland - - 0 - - 1 Gajja Salomons
+/. 9 c.1276G>A pathogenic r.(?) p.(Ala426Thr) Parent #2 g.242695399G>A - - - D2HGDH_015020 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - Norway - - 0 - - 1 Gajja Salomons
+/. 9 c.1276G>A pathogenic r.(?) p.(Ala426Thr) Parent #1 g.242695399G>A - - - D2HGDH_015020 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - M - Norway - - 0 - - 1 Gajja Salomons
+/. 9 c.1276G>A pathogenic r.(?) p.(Ala426Thr) Parent #2 g.242695399G>A - - - D2HGDH_015020 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
+/. 10 c.1315A>G pathogenic r.(?) p.(Asn439Asp) Both (homozygous) g.242707133A>G - - - D2HGDH_015009 - PubMed: Struys 2005 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Struys 2005 - M - Israel - - 0 - - 1 Gajja Salomons
+/. 10 c.1315A>G pathogenic r.(?) p.(Asn439Asp) Parent #1 g.242707133A>G - - - D2HGDH_015009 - PubMed: Struys 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Struys 2005 - M - Israel - - 0 - - 1 Gajja Salomons
+/. 10 c.1315A>G pathogenic r.(?) p.(Asn439Asp) Parent #1 g.242707133A>G - - - D2HGDH_015009 - PubMed: Struys 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Struys 2005 - F - Israel - - 0 - - 1 Gajja Salomons
+/. 10 c.1315A>G pathogenic r.(?) p.(Asn439Asp) Parent #1 g.242707133A>G - - - D2HGDH_015009 - PubMed: Struys 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Struys 2005 - M - Israel - - 0 - - 1 Gajja Salomons
+/. 10 c.1331T>C pathogenic r.(?) p.(Val444Ala) Both (homozygous) g.242707149T>C - - - D2HGDH_015004 - PubMed: Struys 2004 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Struys 2004 - M - Italy - - 0 - - 1 Gajja Salomons
+/. 10 c.1331T>C pathogenic r.(?) p.(Val444Ala) Parent #1 g.242707149T>C - - - D2HGDH_015004 - PubMed: Struys 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Struys 2004 - F - Italy - - 0 - - 1 Gajja Salomons
+/. 10 c.1331T>C pathogenic r.(?) p.(Val444Ala) Parent #1 g.242707149T>C - - - D2HGDH_015004 - PubMed: Struys 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Struys 2004 - M - Italy - - 0 - - 1 Gajja Salomons
+/. 10 c.1333_1334del pathogenic r.(?) p.(Thr445Glyfs*103) Parent #2 g.242707151_242707152del - 1333_1334delAC - D2HGDH_015032 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - F - Germany - - 0 - - 1 Gajja Salomons
+/. 10 c.1333_1334del pathogenic r.(?) p.(Thr445Glyfs*103) Parent #1 g.242707151_242707152del - 1333_1334delAC - D2HGDH_015032 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - F - Germany - - 0 - - 1 Gajja Salomons
+/. 10 c.1333_1334del pathogenic r.(?) p.(Thr445Glyfs*103) Parent #1 g.242707151_242707152del - 1333_1334delAC - D2HGDH_015032 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - - - Germany - - 0 - - 1 Gajja Salomons
+/. 10 c.1337C>T pathogenic r.(?) p.(Ala446Val) Both (homozygous) g.242707155C>T - - - D2HGDH_015017 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - - - - 0 - - 1 Gajja Salomons
+/. 10 c.1429G>A pathogenic r.(?) p.(Gly477Arg) Both (homozygous) g.242707247G>A - - - D2HGDH_015021 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - D2HGA-1 - PubMed: Kranendijk 2010 - M - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+/. 10 c.1429G>A pathogenic r.(?) p.(Gly477Arg) Parent #1 g.242707247G>A - - - D2HGDH_015021 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - M - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+/. 10 c.1429G>A pathogenic r.(?) p.(Gly477Arg) Parent #1 g.242707247G>A - - - D2HGDH_015021 - PubMed: Kranendijk 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Kranendijk 2010 - M - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+?/. - c.1531del likely pathogenic r.(?) p.(Leu511Serfs*169) Unknown g.242707349del - D2HGDH:NM_152783.3:c.1531del (Leu511fs) - D2HGDH_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend