All variants in the ZDHHC9 gene

Information The variants shown are described using the NM_016032.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

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     
-?/. - c.-204+6G>T r.(=) p.(=) - likely benign g.128977666C>A g.129843690C>A ZDHHC9(NM_016032.3):c.-204+6G>T (p.(=)), ZDHHC9(NM_016032.4):c.-204+6G>T - ZDHHC9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-204+6G>T r.(=) p.(=) - likely benign g.128977666C>A g.129843690C>A ZDHHC9(NM_016032.3):c.-204+6G>T (p.(=)), ZDHHC9(NM_016032.4):c.-204+6G>T - ZDHHC9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-204+7A>G r.(=) p.(=) - likely benign g.128977665T>C g.129843689T>C ZDHHC9(NM_001008222.2):c.-566A>G (p.(=)) - ZDHHC9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-204+16_-204+17dup r.(=) p.(=) - VUS g.128977658_128977659dup g.129843682_129843683dup ZDHHC9(NM_016032.4):c.-204+16_-204+17dupGG - ZDHHC9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-204+17dup r.(=) p.(=) - likely benign g.128977659dup - ZDHHC9(NM_016032.4):c.-204+17dupG - ZDHHC9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. - c.145T>C r.(?) p.(Cys49Arg) - pathogenic g.128975777A>G g.129841801A>G ZDHHC9 C49R - ZDHHC9_000018 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.167+10G>A r.(=) p.(=) - benign g.128975745C>T g.129841769C>T ZDHHC9(NM_001008222.2):c.167+10G>A - ZDHHC9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 4 c.172_175dup r.(?) p.(Tyr59Serfs*33) - VUS g.128963110_128963113dup g.129829134_129829137dup - - ZDHHC9_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
+?/? 4 c.286C>T r.(?) p.(Arg96Trp) - likely pathogenic g.128962999G>A g.129829023G>A - - ZDHHC9_000004 - - - - Germline ? - - 0 - Andreas Tzschach
+/. 4 c.286C>T r.(?) p.(Arg96Trp) - pathogenic g.128962999G>A g.129829023G>A - - ZDHHC9_000004 - PubMed: Han 2018 - - De novo - - - 0 - Joonhong Park
-?/. - c.324G>A r.(?) p.(Glu108=) - likely benign g.128962961C>T - ZDHHC9(NM_001008222.3):c.324G>A (p.E108=) - ZDHHC9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.361C>T r.(?) p.(Arg121Ter) - likely pathogenic g.128957781G>A g.129823805G>A - - ZDHHC9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 5 c.442C>T r.(?) p.(Arg148Trp) - VUS g.128957700G>A g.129823724G>A - - ZDHHC9_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
+?/. - c.442C>T r.(?) p.(Arg148Trp) - likely pathogenic g.128957700G>A g.129823724G>A - - ZDHHC9_000002 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs137852214 Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/? 5 c.448C>T r.(?) p.(Pro150Ser) - VUS g.128957694G>A g.129823718G>A - - ZDHHC9_000003 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
+?/. - c.487+5_487+19del r.spl p.? ACMG likely pathogenic g.128957636_128957650del g.129823660_129823674del - - ZDHHC9_000032 ACMG PVS1,PM3 PubMed: Anazi 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. - c.487+15A>G r.(?) p.(=) - VUS g.128957640T>C g.129823664T>C - - ZDHHC9_000005 - - - - Germline - - - 0 - Yu Sun
?/. - c.487+15A>G r.(?) p.(=) - VUS g.128957640T>C g.129823664T>C - - ZDHHC9_000005 - - - - Germline - - - 0 - Yu Sun
-/. - c.487+15A>G r.(=) p.(=) - benign g.128957640T>C g.129823664T>C ZDHHC9(NM_001008222.3):c.487+15A>G - ZDHHC9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.487+15A>G r.(=) p.(=) - benign g.128957640T>C g.129823664T>C ZDHHC9(NM_001008222.3):c.487+15A>G - ZDHHC9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.488-124del r.(=) p.(=) - VUS g.128948897del g.129814921del - - ZDHHC9_000015 - - - - Germline - - - - - Yu Sun
?/. - c.488-124del r.(=) p.(=) - VUS g.128948897del g.129814921del - - ZDHHC9_000015 - - - - Germline - - - - - Yu Sun
?/. - c.488-122A>G r.(=) p.(=) - VUS g.128948893T>C g.129814917T>C - - ZDHHC9_000013 - - - - Germline - - - - - Yu Sun
-?/. - c.488-17C>T r.(=) p.(=) - likely benign g.128948788G>A g.129814812G>A ZDHHC9(NM_001008222.3):c.488-17C>T - ZDHHC9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.621C>T r.(?) p.(Ala207=) - likely benign g.128948638G>A - ZDHHC9(NM_016032.4):c.621C>T (p.A207=) - ZDHHC9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.625+123A>G r.(=) p.(=) - VUS g.128948511T>C g.129814535T>C - - ZDHHC9_000010 - - - - Germline - - - - - Yu Sun
?/. - c.625+123A>G r.(=) p.(=) - VUS g.128948511T>C g.129814535T>C - - ZDHHC9_000010 - - - - Germline - - - - - Yu Sun
-/. - c.674+9C>T r.(=) p.(=) - benign g.128947644G>A g.129813668G>A ZDHHC9(NM_001008222.2):c.674+9C>T, ZDHHC9(NM_001008222.3):c.674+9C>T - ZDHHC9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.674+9C>T r.(=) p.(=) - likely benign g.128947644G>A - ZDHHC9(NM_001008222.2):c.674+9C>T, ZDHHC9(NM_001008222.3):c.674+9C>T - ZDHHC9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.878_879insA r.(?) p.(Ser294Glnfs*26) - likely pathogenic g.128945384_128945385insT g.129811408_129811409insT - - ZDHHC9_000031 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.892C>T r.(?) p.(Arg298Ter) - pathogenic g.128944967G>A g.129810991G>A - - ZDHHC9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
./. - c.892C>T r.(?) p.(Arg298*) - pathogenic g.128944967G>A g.129810991G>A ZDHHC9 R298* - ZDHHC9_000017 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.892C>T r.(?) p.(Arg298*) - likely pathogenic g.128944967G>A g.129810991G>A - - ZDHHC9_000017 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
-?/. - c.975C>T r.(?) p.(Ser325=) - likely benign g.128944884G>A g.129810908G>A ZDHHC9(NM_001008222.3):c.975C>T (p.S325=) - ZDHHC9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.978+15C>T r.(=) p.(=) - likely benign g.128944866G>A g.129810890G>A ZDHHC9(NM_001008222.3):c.978+15C>T - ZDHHC9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1045C>T r.(?) p.(Pro349Ser) - likely benign g.128940396G>A g.129806420G>A ZDHHC9(NM_001008222.2):c.1045C>T (p.P349S) - ZDHHC9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*1042del r.(=) p.(=) - VUS g.128939304del g.129805328del - - ZDHHC9_000014 - - - - Germline - - - - - Yu Sun
?/. - c.*1388A>G r.(=) p.(=) - VUS g.128938958T>C g.129804982T>C - - ZDHHC9_000006 - - - - Germline - - - - - Yu Sun
?/. - c.*1388A>G r.(=) p.(=) - VUS g.128938958T>C g.129804982T>C - - ZDHHC9_000006 - - - - Germline - - - - - Yu Sun
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