Unique variants in gene D2HGDH

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

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 _1i_6_ c.(?_-92-1)_(853+1_854-1)del pathogenic r.0? p.0? g.(?_242674547)_(242684293_242689565)del - del ex1-6 - D2HGDH_015028 MLPA, Ex 2 and 6 deletion PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
?/. 1 - c.7C>T VUS r.(?) p.(Pro3Ser) g.242674646C>T - D2HGDH(NM_152783.3):c.7C>T (p.(Pro3Ser)) - D2HGDH_015053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.11G>T likely benign r.(?) p.(Arg4Leu) g.242674650G>T - D2HGDH(NM_152783.3):c.11G>T (p.(Arg4Leu)) - D2HGDH_015054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.225C>G likely benign r.(?) p.(=) g.242674864C>G - D2HGDH(NM_152783.4):c.225C>G (p.P75=) - D2HGDH_015055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 2i c.293-23A>G pathogenic r.spl ? g.242680425A>G - - - D2HGDH_015015 - PubMed: Struys 2005 - - Germline - - - - - Gajja Salomons
-/. 1 - c.293-18A>G benign r.(=) p.(=) g.242680430A>G - D2HGDH(NM_152783.4):c.293-18A>G - D2HGDH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 3 c.325_326dup pathogenic r.(?) p.(Glu110Argfs*18) g.242680480_242680481dup - 326_327dupTC - D2HGDH_015005 - PubMed: Misra 2005 - - Germline - - - - - Gajja Salomons
+/. 3 3 c.326C>G pathogenic r.(?) p.(Ser109Trp) g.242680481C>G - - - D2HGDH_015007 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
?/? 4 4 c.371T>C VUS r.(?) p.(Leu124Pro) g.242681870T>C - - - D2HGDH_015044 - - - - Germline - - - - - Gajja Salomons
?/? 1 4 c.373G>A VUS r.(?) p.(Ala125Thr) g.242681872G>A - - - D2HGDH_015036 - PubMed: 21384162 - - Germline - - - - - Gajja Salomons
+/. 1 4 c.381C>A pathogenic r.(?) p.(Asn127Lys) g.242681880C>A - - - D2HGDH_015011 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
+/. 2 4 c.392G>T pathogenic r.(?) p.(Gly131Val) g.242681891G>T - - - D2HGDH_015018 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.423C>T likely benign r.(?) p.(=) g.242681922C>T - D2HGDH(NM_152783.4):c.423C>T (p.P141=) - D2HGDH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 4 c.440T>G pathogenic r.(?) p.(Ile147Ser) g.242681939T>G - - - D2HGDH_015016 - PubMed: Struys 2004 - - Germline - - - - - Gajja Salomons
+/. 2 4 c.457A>G pathogenic r.(?) p.(Met153Val) g.242681956A>G - - - D2HGDH_015008 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
+/. 1 4 c.458T>C pathogenic r.(?) p.(Met153Thr) g.242681957T>C - 458T>C - D2HGDH_015042 - PubMed: Haliloglu 2009 - - Germline - - - - - Gajja Salomons
+/. 1 5 c.505C>T pathogenic r.(?) p.(Gln169*) g.242683051C>T - - - D2HGDH_015014 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
?/? 2 5 c.506A>C VUS r.(?) p.(Gln169Pro) g.242683052A>C - - - D2HGDH_015038 - - - - Germline - - - - - Gajja Salomons
?/? 2 5 c.509C>A VUS r.(?) p.(Ala170Glu) g.242683055C>A - - - D2HGDH_015023 - - - - Germline - - - - - Gajja Salomons
+/. 4 5 c.515G>A pathogenic r.(?) p.(Cys172Tyr) g.242683061G>A - - - D2HGDH_015030 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.551G>A likely benign r.(?) p.(Arg184Gln) g.242683097G>A - D2HGDH(NM_152783.3):c.551G>A (p.(Arg184Gln)) - D2HGDH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 5 c.566C>T pathogenic r.(?) p.(Pro189Leu) g.242683112C>T - 566C>T - D2HGDH_015033 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
?/? 2 5 c.599T>C VUS r.(?) p.Ile200Thr g.242683145T>C - - - D2HGDH_015039 - - - - Germline - - - - - Gajja Salomons
+/. 1 5 c.614C>T pathogenic r.(?) p.(Ala205Val) g.242683160C>T - - - D2HGDH_015019 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
+/. 2 5 c.642del pathogenic r.(?) p.(Arg215Aspfs*25) g.242683188del - 642delT - D2HGDH_015013 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
-/. 1 - c.685-9T>C benign r.(=) p.(=) g.242684115T>C - D2HGDH(NM_152783.4):c.685-9T>C - D2HGDH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 5 5i c.685-2A>G pathogenic r.spl p.? g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - - - Gajja Salomons
+/. 3 6 c.692C>T pathogenic r.(?) p.(Ala231Val) g.242684131C>T - - - D2HGDH_015022 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
+/. 3 6 c.697G>A pathogenic r.(?) p.(Gly233Ser) g.242684136G>A - - - D2HGDH_015026 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
?/? 3 6 c.814T>C VUS r.(?) p.(Cys272Arg) g.242684253T>C - - - D2HGDH_015040 - - - - Germline - - - - - Gajja Salomons
+/. 2 6i c.853+2T>C pathogenic r.spl p.? g.242684294T>C - - - D2HGDH_015012 IVS6+2T>C PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
-/. 1 - c.854-1274C>T benign r.(=) p.(=) g.242688292C>T - D2HGDH(NM_152783.4):c.854-1274C>T - D2HGDH_015056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.854-1200C>T benign r.(=) p.(=) g.242688366C>T - D2HGDH(NM_152783.4):c.854-1200C>T - D2HGDH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/? 1 7 c.858C>A VUS r.(?) p.(Cys286*) g.242689570C>A - - - D2HGDH_015037 - PubMed: 21384162 - - Germline - - - - - Gajja Salomons
?/? 4 7 c.931G>A VUS r.(?) p.(Glu311Lys) g.242689643G>A - - - D2HGDH_015043 - - - - Germline - - - - - Gajja Salomons
?/? 3 7 c.997G>A VUS r.(?) p.(Glu333Lys) g.242689709G>A - - - D2HGDH_015045 - - - - Germline - - - - - Gajja Salomons
-?/. 1 - c.1063G>A likely benign r.(?) p.(Gly355Ser) g.242690726G>A - D2HGDH(NM_152783.4):c.1063G>A (p.G355S) - D2HGDH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 8 c.1123G>T pathogenic r.(?) p.(Asp375Tyr) g.242690786G>T - - - D2HGDH_015006 - PubMed: Misra 2005 - - Germline - - - - - Gajja Salomons
+/. 1 8i_10_ c.(1140+1_1141-1)_(*1_?)del pathogenic r.? p.(0) g.(242690804_242695263)_(242707385_?)del - del ex9-10 - D2HGDH_015027 MLPA, Ex 9 and 10 deletion PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
?/? 2 9 c.1175C>G VUS r.(?) p.(Ala392Gly) g.242695298C>G - - - D2HGDH_015025 - - - - Germline - - - - - Gajja Salomons
-?/. 1 - c.1183C>T likely benign r.(?) p.(Arg395Trp) g.242695306C>T - D2HGDH(NM_152783.3):c.1183C>T (p.(Arg395Trp)) - D2HGDH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 9 c.1195G>A pathogenic r.(?) p.(Val399Met) g.242695318G>A - - - D2HGDH_015031 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
+/. 2 9 c.1200C>A pathogenic r.(?) p.(Tyr400*) g.242695323C>A - - - D2HGDH_015034 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
+/. 3 9 c.1256G>A pathogenic r.(?) p.(Arg419His) g.242695379G>A - - - D2HGDH_015010 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
+/., -?/. 5 9 c.1276G>A pathogenic, likely benign r.(?) p.(Ala426Thr) g.242695399G>A - D2HGDH(NM_152783.4):c.1276G>A (p.A426T) - D2HGDH_015020 VKGL data sharing initiative Nederland PubMed: Kranendijk 2010 - - Germline, CLASSIFICATION record - - - - - Gajja Salomons, VKGL-NL
+/. 4 10 c.1315A>G pathogenic r.(?) p.(Asn439Asp) g.242707133A>G - - - D2HGDH_015009 - PubMed: Struys 2005 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.1327A>C likely benign r.(?) p.(Asn443His) g.242707145A>C - D2HGDH(NM_152783.3):c.1327A>C (p.(Asn443His)) - D2HGDH_015057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 10 c.1331T>C pathogenic r.(?) p.(Val444Ala) g.242707149T>C - - - D2HGDH_015004 - PubMed: Struys 2004 - - Germline - - - - - Gajja Salomons
+/. 3 10 c.1333_1334del pathogenic r.(?) p.(Thr445Glyfs*103) g.242707151_242707152del - 1333_1334delAC - D2HGDH_015032 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
+/. 1 10 c.1337C>T pathogenic r.(?) p.(Ala446Val) g.242707155C>T - - - D2HGDH_015017 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
?/? 2 10 c.1357C>T VUS r.(?) p.(Leu453Phe) g.242707175C>T - - - D2HGDH_015024 MLPA, normal - - - Germline - - - - - Gajja Salomons
?/? 1 10 c.1421C>T VUS r.(?) p.(Ala474Val) g.242707239C>T - - - D2HGDH_015046 - - - - Germline - - - - - Gajja Salomons
+/. 3 10 c.1429G>A pathogenic r.(?) p.(Gly477Arg) g.242707247G>A - - - D2HGDH_015021 - PubMed: Kranendijk 2010 - - Germline - - - - - Gajja Salomons
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