Full data view for gene ACE

Information The variants shown are described using the NM_000789.3 transcript reference sequence.

165 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     
?/? 1_25 c.? r.? p.? Unknown - VUS g.? - - - ACE_000000 unknown variant 2nd chromosome - - - Unknown - - - - - DNA SEQ - - RTD - - - - ? France;Italy - - - - - 1 Olivier Gribouval
?/? 1_25 c.? r.? p.? Paternal (inferred) - VUS g.? - - - ACE_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? United States - - - - - 1 Olivier Gribouval
?/? 1_25 c.? r.? p.? Paternal (inferred) - VUS g.? - - - ACE_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? France - - - - - 1 Olivier Gribouval
+/? 1 c.13_22del r.(?) p.(Ser5Glyfs*136) Parent #1 - pathogenic g.61554468_61554477del g.63477107_63477116del 13_22del10 - ACE_000031 - PubMed: Uematsu 2009 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Uematsu 2009 - - ? Japan - - - - - 1 Olivier Gribouval
+/? 1 c.21_30del r.(?) p.(Arg8Glyfs*134) Paternal (confirmed) - pathogenic g.61554476_61554485del g.63477115_63477124del 21_30del10 - ACE_000005 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Cote D'Ivoire (Ivory Coast) - - - - - 1 Olivier Gribouval
+/? 1 c.21_30del r.(?) p.(Arg8Glyfs*134) Maternal (confirmed) - pathogenic g.61554476_61554485del g.63477115_63477124del 21_30del10 - ACE_000005 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Cote D'Ivoire (Ivory Coast) - - - - - 1 Olivier Gribouval
+/? 1 c.38_43del r.(?) p.(Leu13_Leu14del) Paternal (confirmed) - pathogenic g.61554493_61554498del g.63477132_63477137del 38_43del6 - ACE_000018 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Cote D'Ivoire (Ivory Coast) - - - - - 1 Olivier Gribouval
+/? 1 c.38_43del r.(?) p.(Leu13_Leu14del) Maternal (confirmed) - pathogenic g.61554493_61554498del g.63477132_63477137del 38_43del6 - ACE_000018 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Cote D'Ivoire (Ivory Coast) - - - - - 1 Olivier Gribouval
+/. - c.38_43del r.(?) p.(Leu13_Leu14del) Unknown - pathogenic g.61554493_61554498del - ACE(NM_000789.4):c.38_43delTGCTGC (p.L13_L14del) - ACE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.38_49del r.(?) p.(Leu13_Leu16del) Paternal (confirmed) - pathogenic g.61554493_61554504del g.63477132_63477143del 38_49del12 - ACE_000004 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Tunisia - - - - - 1 Olivier Gribouval
+/? 1 c.38_49del r.(?) p.(Leu13_Leu16del) Maternal (confirmed) - pathogenic g.61554493_61554504del g.63477132_63477143del 38_49del12 - ACE_000004 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Tunisia - - - - - 1 Olivier Gribouval
-?/. - c.45G>C r.(?) p.(Pro15=) Unknown - likely benign g.61554500G>C - ACE(NM_000789.3):c.45G>C (p.P15=), ACE(NM_000789.4):c.45G>C (p.P15=) - ACE_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45G>C r.(?) p.(Pro15=) Unknown - likely benign g.61554500G>C - ACE(NM_000789.3):c.45G>C (p.P15=), ACE(NM_000789.4):c.45G>C (p.P15=) - ACE_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.47_70del r.(?) p.(Leu16_Pro23del) Paternal (confirmed) - pathogenic g.61554502_61554525del g.63477141_63477164del 47_70del24 - ACE_000014 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Pakistan - - - - - 1 Olivier Gribouval
+/? 1 c.47_70del r.(?) p.(Leu16_Pro23del) Paternal (confirmed) - pathogenic g.61554502_61554525del g.63477141_63477164del 47_70del24 - ACE_000014 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? France;Canada - - - - - 1 Olivier Gribouval
+/? 1 c.47_70del r.(?) p.(Leu16_Pro23del) Maternal (confirmed) - pathogenic g.61554502_61554525del g.63477141_63477164del 47_70del24 - ACE_000014 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Pakistan - - - - - 1 Olivier Gribouval
+/? 1 c.47_70del r.(?) p.(Leu16_Pro23del) Maternal (confirmed) - pathogenic g.61554502_61554525del g.63477141_63477164del 47_70del24 - ACE_000014 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? France;Canada - - - - - 1 Olivier Gribouval
+/? 1 c.47_70del r.(?) p.(Leu16_Pro23del) Maternal (confirmed) - pathogenic g.61554502_61554525del g.63477141_63477164del 47_70del24 - ACE_000014 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Australia - - - - - 1 Olivier Gribouval
?/. - c.50_55dup r.(?) p.(Pro17_Leu18dup) Unknown - VUS g.61554505_61554510dup g.63477144_63477149dup ACE(NM_000789.3):c.38_39insGCTGCC (p.(Leu13_Leu14insLeuPro)) - ACE_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.52_57del r.(?) p.(Leu21_Leu22del) Unknown - VUS g.61554507_61554512del - ACE(NM_000789.4):c.52_57del (p.(Leu21_Leu22del)) - ACE_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.62T>C r.(?) p.(Leu21Pro) Paternal (confirmed) - pathogenic g.61554517T>C g.63477156T>C - - ACE_000012 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? - North Africa - - - - 1 Olivier Gribouval
+/? 1 c.62T>C r.(?) p.(Leu21Pro) Maternal (confirmed) - pathogenic g.61554517T>C g.63477156T>C - - ACE_000012 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? - North Africa - - - - 1 Olivier Gribouval
-/. - c.214G>A r.(?) p.(Asp72Asn) Unknown - benign g.61554669G>A g.63477308G>A ACE(NM_000789.4):c.214G>A (p.D72N) - ACE_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.231G>A r.(?) p.(Ala77=) Unknown - benign g.61554686G>A g.63477325G>A ACE(NM_000789.4):c.231G>A (p.A77=) - ACE_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.349C>T r.(?) p.(=) Unknown - likely benign g.61555391C>T - ACE(NM_000789.4):c.349C>T (p.L117=) - ACE_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411G>T r.(?) p.(Arg137=) Unknown - likely benign g.61555453G>T - ACE(NM_000789.3):c.411G>T (p.R137=), ACE(NM_000789.4):c.411G>T (p.R137=) - ACE_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411G>T r.(?) p.(Arg137=) Unknown - likely benign g.61555453G>T - ACE(NM_000789.3):c.411G>T (p.R137=), ACE(NM_000789.4):c.411G>T (p.R137=) - ACE_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.444_445insTTAGC r.(?) p.(Arg149Leufs*54) Maternal (confirmed) - pathogenic g.61556394_61556395insTTAGC g.63479033_63479034insTTAGC - - ACE_000019 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? United Kingdom (Great Britain) - - - - - 1 Olivier Gribouval
+/? 3 c.444_445insTTAGC r.(?) p.(Arg149Leufs*54) Maternal (confirmed) - pathogenic g.61556394_61556395insTTAGC g.63479033_63479034insTTAGC - - ACE_000019 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gribouval 2005 - - ? - Europe - - - - 1 Olivier Gribouval
?/. - c.465G>C r.(?) p.(Lys155Asn) Unknown - VUS g.61556415G>C g.63479054G>C ACE(NM_000789.3):c.465G>C (p.(Lys155Asn)) - ACE_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.479A>G r.(?) p.(Asn160Ser) Unknown - benign g.61556429A>G - ACE(NM_000789.4):c.479A>G (p.N160S) - ACE_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.656-9C>T r.(=) p.(=) Unknown - benign g.61557689C>T - ACE(NM_000789.4):c.656-9C>T - ACE_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.731A>G r.(?) p.(Tyr244Cys) Unknown - benign g.61557773A>G g.63480412A>G ACE(NM_000789.4):c.731A>G (p.Y244C) - ACE_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.776G>A r.(?) p.(Arg259His) Maternal (confirmed) - pathogenic g.61557818G>A g.63480457G>A - - ACE_000028 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? France - - - - - 1 Olivier Gribouval
-?/. - c.780C>T r.(?) p.(Arg260=) Unknown - likely benign g.61557822C>T - ACE(NM_000789.4):c.780C>T (p.R260=) - ACE_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.793C>T r.(?) p.(Arg265*) Maternal (confirmed) - pathogenic g.61557835C>T g.63480474C>T - - ACE_000008 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Italy - - - - - 1 Olivier Gribouval
+/? 5 c.793C>T r.(?) p.(Arg265*) Maternal (confirmed) - pathogenic g.61557835C>T g.63480474C>T - - ACE_000008 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA arraySNP - - RTD - PubMed: Gibrouval 2012 - - ? - Europe - - - - 1 Olivier Gribouval
+/. - c.793C>T r.(?) p.(Arg265*) Paternal (confirmed) ACMG pathogenic g.61557835C>T g.63480474C>T - - ACE_000008 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - RTD - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.793C>T r.(?) p.(Arg265*) Unknown - pathogenic g.61557835C>T - ACE(NM_000789.4):c.793C>T (p.R265*) - ACE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.798C>G r.(?) p.(Tyr266*) Paternal (confirmed) - pathogenic g.61557840C>G g.63480479C>G - - ACE_000027 - PubMed: Gribouval 2005 - - Germline - - - - - DNA SEQ - - RTD - - - - ? France;Italy - - - - - 1 Olivier Gribouval
+/? 5 c.798C>G r.(?) p.(Tyr266*) Paternal (confirmed) - pathogenic g.61557840C>G g.63480479C>G - - ACE_000027 - PubMed: Gribouval 2005 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gribouval 2005 - - ? - Europe - - - - 1 Olivier Gribouval
?/. - c.799G>A r.(?) p.(Gly267Arg) Unknown - VUS g.61557841G>A g.63480480G>A ACE(NM_000789.3):c.799G>A (p.(Gly267Arg)) - ACE_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.847+12G>A r.(=) p.(=) Unknown - likely benign g.61557901G>A - ACE(NM_000789.4):c.847+12G>A - ACE_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.847+31C>T r.(=) p.(=) Unknown - benign g.61557920C>T g.63480559C>T ACE(NM_000789.4):c.847+31C>T - ACE_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.870G>A r.(?) p.(Trp290*) Unknown - pathogenic g.61558474G>A - ACE(NM_000789.3):c.870G>A (p.W290*), ACE(NM_000789.4):c.870G>A (p.W290*) - ACE_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.870G>A r.(?) p.(Trp290*) Unknown - pathogenic g.61558474G>A - ACE(NM_000789.3):c.870G>A (p.W290*), ACE(NM_000789.4):c.870G>A (p.W290*) - ACE_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.883G>T r.(?) p.(Asp295Tyr) Unknown - VUS g.61558487G>T - ACE(NM_000789.4):c.883G>T (p.(Asp295Tyr)) - ACE_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.945+16A>G r.(=) p.(=) Unknown - likely benign g.61558565A>G - ACE(NM_000789.4):c.945+16A>G - ACE_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960G>A r.(?) p.(Thr320=) Unknown - likely benign g.61558941G>A g.63481580G>A ACE(NM_000789.3):c.960G>A (p.T320=) - ACE_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970C>T r.(?) p.(Arg324Trp) Unknown - likely benign g.61558951C>T g.63481590C>T ACE(NM_000789.3):c.970C>T (p.(Arg324Trp)), ACE(NM_000789.4):c.970C>T (p.R324W) - ACE_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970C>T r.(?) p.(Arg324Trp) Unknown - likely benign g.61558951C>T - ACE(NM_000789.3):c.970C>T (p.(Arg324Trp)), ACE(NM_000789.4):c.970C>T (p.R324W) - ACE_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 7 c.982_984del r.(?) p.(Glu328del) Maternal (confirmed) - pathogenic g.61558963_61558965del g.63481602_63481604del 982_984delGAG - ACE_000006 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Italy - - - - - 1 Olivier Gribouval
+/? 7 c.998T>A r.(?) p.(Leu333Gln) Maternal (confirmed) - pathogenic g.61558979T>A g.63481618T>A - - ACE_000023 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? United States - - - - - 1 Olivier Gribouval
+/? 7 c.1028G>A r.(?) p.(Trp343*) Paternal (confirmed) - pathogenic g.61559009G>A g.63481648G>A - - ACE_000015 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Turkey - - - - - 1 Olivier Gribouval
+/? 7 c.1028G>A r.(?) p.(Trp343*) Maternal (confirmed) - pathogenic g.61559009G>A g.63481648G>A - - ACE_000015 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Turkey - - - - - 1 Olivier Gribouval
+/? 7 c.1028_1031dup r.(?) p.(Ser346Argfs*47) Paternal (confirmed) - pathogenic g.61559009_61559012dup g.63481648_63481651dup 1028_1031dupGGGA - ACE_000020 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? United Kingdom (Great Britain) - - - - - 1 Olivier Gribouval
+/? 7 c.1029G>A r.(?) p.(Trp343*) Paternal (confirmed) - pathogenic g.61559010G>A g.63481649G>A - - ACE_000002 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Norway - - - - - 1 Olivier Gribouval
-?/. - c.1098C>T r.(?) p.(Phe366=) Unknown - likely benign g.61559079C>T - ACE(NM_000789.4):c.1098C>T (p.F366=) - ACE_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1103A>G r.(?) p.(Asn368Ser) Unknown - VUS g.61559084A>G - ACE(NM_000789.4):c.1103A>G (p.N368S) - ACE_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1119-18G>A r.(=) p.(=) Unknown - likely benign g.61559809G>A - ACE(NM_000789.4):c.1119-18G>A - ACE_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1119-8C>T r.(=) p.(=) Unknown - likely benign g.61559819C>T g.63482458C>T ACE(NM_000789.3):c.1119-8C>T (p.(=)), ACE(NM_000789.4):c.1119-8C>T - ACE_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1119-8C>T r.(=) p.(=) Unknown - likely benign g.61559819C>T - ACE(NM_000789.3):c.1119-8C>T (p.(=)), ACE(NM_000789.4):c.1119-8C>T - ACE_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1215C>T r.(?) p.(Pro405=) Unknown - benign g.61559923C>T g.63482562C>T ACE(NM_000789.4):c.1215C>T (p.P405=) - ACE_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.1319_1322del r.(?) p.(Leu440Profs*15) Paternal (confirmed) - pathogenic g.61560027_61560030del g.63482666_63482669del 1319_1322delTGGA - ACE_000029 - PubMed: Gribouval 2005 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gribouval 2005 - - ? Turkey - - - - - 1 Olivier Gribouval
+/? 8 c.1319_1322del r.(?) p.(Leu440Profs*15) Maternal (confirmed) - pathogenic g.61560027_61560030del g.63482666_63482669del 1319_1322delTGGA - ACE_000029 - PubMed: Gribouval 2005 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gribouval 2005 - - ? Turkey - - - - - 1 Olivier Gribouval
-?/. - c.1325G>A r.(?) p.(Arg442His) Unknown - likely benign g.61560033G>A - ACE(NM_000789.4):c.1325G>A (p.R442H) - ACE_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1341G>C r.(?) p.(Thr447=) Unknown - likely benign g.61560049G>C g.63482688G>C ACE(NM_000789.3):c.1341G>C (p.(=)), ACE(NM_000789.4):c.1341G>C (p.T447=) - ACE_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1341G>C r.(?) p.(Thr447=) Unknown - likely benign g.61560049G>C - ACE(NM_000789.3):c.1341G>C (p.(=)), ACE(NM_000789.4):c.1341G>C (p.T447=) - ACE_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1459C>T r.(?) p.(Arg487Cys) Paternal (confirmed) - likely pathogenic g.61560506C>T g.63483145C>T - - ACE_000085 variant present in 2 affecteds carrying KNG1 variant, absent in one and present in one asymptomatic individual PubMed: Loules 2020, Journal: Loules 2020 ClinVar-VCV000888834.1 - Germline - - - - - DNA SEQ-NG-IT - - HAE6 family PubMed: Loules 2020, Journal: Loules 2020 3-generation family, 4 carriers (4 males), 3 affected individuals The son of the proband had only one attack during his lifetime, he is carrier of KNG1 c.1720C>G variant, but not of the ACE c.1459C>T variant. M - Italy - - - - - 3 Christian Drouet
+/? 9 c.1486C>T r.(?) p.(Arg496*) Paternal (confirmed) - pathogenic g.61560533C>T g.63483172C>T - - ACE_000024 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Switzerland - - - - - 1 Olivier Gribouval
+/? 9 c.1486C>T r.(?) p.(Arg496*) Maternal (confirmed) - pathogenic g.61560533C>T g.63483172C>T - - ACE_000024 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Switzerland - - - - - 1 Olivier Gribouval
+?/. - c.1511del r.(?) p.(Pro504Leufs*21) Unknown - likely pathogenic g.61560844del - ACE(NM_000789.4):c.1511delC (p.P504Lfs*21) - ACE_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 10 c.1522C>T r.(?) p.(Arg508*) Maternal (confirmed) - pathogenic g.61560855C>T g.63483494C>T - - ACE_000013 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? United Kingdom (Great Britain) - - - - - 1 Olivier Gribouval
-?/. - c.1557T>C r.(?) p.(Phe519=) Unknown - likely benign g.61560890T>C g.63483529T>C ACE(NM_000789.3):c.1557T>C (p.F519=) - ACE_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1584C>A r.(?) p.(Ile528=) Unknown - likely benign g.61560917C>A g.63483556C>A ACE(NM_000789.3):c.1584C>A (p.I528=) - ACE_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1586+1G>A r.spl? p.? Maternal (confirmed) ACMG likely pathogenic g.61560920G>A g.63483559G>A - - ACE_000034 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - RTD - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1586+1G>A r.spl? p.? Unknown - pathogenic g.61560920G>A - ACE(NM_000789.4):c.1586+1G>A - ACE_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10i c.1586+2_1586+5del r.spl p.? Unknown - likely pathogenic g.61560921_61560924del g.63483560_63483563del hg38 63483559GTATT>G - ACE_000126 novel, extremely rare ACE gene splice donor variant with estimated SpliceAI score >0.95, indicating very high confidence for splicing disruption. This canonical GT splice site variant is predicted to cause exon skipping, intron retention, or cryptic splice site activation, leading to reduced or absent ACE protein through nonsense-mediated decay. - - - Germline/De novo (untested) ? - - - - DNA ARMS Blood - obesity - - - - - (Oman) Omani - - - - 1 Zakira Naureen
-?/. - c.1587-13C>G r.(=) p.(=) Unknown - likely benign g.61561197C>G - ACE(NM_000789.4):c.1587-13C>G - ACE_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1681C>T r.(?) p.(Arg561Trp) Unknown - likely benign g.61561304C>T - ACE(NM_000789.4):c.1681C>T (p.R561W) - ACE_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1709+5G>C r.[1587_1709del,1693_1709del] p.[Tyr530_Arg570del,Ala565Glufs*64] Both (homozygous) - pathogenic (recessive) g.61561337G>C g.63483976G>C - - ACE_000112 exon skipping, cryptic splice donor; transcripts cycloheximide insensitive, cycloheximide sensitive PubMed: Bournazos 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA whole blood, fibroblasts, urothelial cells duo WES ? A009 PubMed: Bournazos 2022 family, affected fetus (died 38w) - - Australia - - - - - 1 Johan den Dunnen
?/. - c.1709+9T>G r.(=) p.(=) Unknown - VUS g.61561341T>G - ACE(NM_000789.4):c.1709+9T>G - ACE_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 12 c.1740del r.(?) p.(Trp581Glyfs*5) Paternal (confirmed) - pathogenic g.61561721del g.63484360del - - ACE_000007 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Italy - - - - - 1 Olivier Gribouval
-/. - c.1775A>G r.(?) p.(Asp592Gly) Unknown - benign g.61561756A>G - ACE(NM_000789.4):c.1775A>G (p.D592G) - ACE_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1789del r.(?) p.(Gln597SerfsTer44) Unknown - pathogenic g.61561770del - ACE(NM_000789.4):c.1789delC (p.Q597Sfs*44) - ACE_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 12 c.1803del r.(?) p.(Lys601Asnfs*40) Paternal (confirmed) - pathogenic g.61561784del g.63484423del - - ACE_000010 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? France - - - - - 1 Olivier Gribouval
+/? 12 c.1803del r.(?) p.(Lys601Asnfs*40) Maternal (confirmed) - pathogenic g.61561784del g.63484423del - - ACE_000010 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Spain - - - - - 1 Olivier Gribouval
+/? 12 c.1867T>C r.(?) p.(Trp623Arg) Paternal (confirmed) - pathogenic g.61561848T>C g.63484487T>C - - ACE_000017 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Turkey - - - - - 1 Olivier Gribouval
+/? 12 c.1867T>C r.(?) p.(Trp623Arg) Maternal (confirmed) - pathogenic g.61561848T>C g.63484487T>C - - ACE_000017 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Turkey - - - - - 1 Olivier Gribouval
-?/. - c.1921+327A>G r.(=) p.(=) Unknown - likely benign g.61562229A>G - ACE(NM_152830.3):c.1A>G (p.M1?) - ACE_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1922-296C>T r.(=) p.(=) Unknown - VUS g.61562301C>T - ACE(NM_001178057.2):c.73C>T (p.(Leu25=)) - ACE_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1922-288C>T r.(=) p.(=) Unknown - benign g.61562309C>T g.63484948C>T ACE(NM_152830.3):c.81C>T (p.P27=) - ACE_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1922-104dup r.(=) p.(=) Unknown - benign g.61562493dup g.63485132dup ACE(NM_000789.4):c.1922-104dupG - ACE_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1922-104dup r.(=) p.(=) Unknown - benign g.61562493dup g.63485132dup ACE(NM_000789.4):c.1922-104dupG - ACE_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1979C>G r.(?) p.(Ser660Cys) Unknown - VUS g.61562654C>G - ACE(NM_000789.3):c.1979C>G (p.S660C) - ACE_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13i_15i c.(2058+1_2059-1)_(2305+1_2306-1)del r.? p.(fs*) Paternal (confirmed) - pathogenic g.(61562734_61563917)_(61564435_61566008)del g.(63485373_63486556)_(63487074_63488647)del 2059-?_2305+?del, del ex14-15 - ACE_000016 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA arraySNP - - RTD - PubMed: Gibrouval 2012 - - ? - Europe - - - - 1 Olivier Gribouval
+/? 14 c.2149_2150del r.(?) p.(Ile717Glnfs*64) Paternal (confirmed) - pathogenic g.61564008_61564009del g.63486647_63486648del 2149_2150delAT - ACE_000030 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Australia - - - - - 1 Olivier Gribouval
+/? 14 c.2162_2163del r.(?) p.(Ile721Lysfs*60) Paternal (confirmed) - pathogenic g.61564021_61564022del g.63486660_63486661del 2161_2162delTA - ACE_000009 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Italy - - - - - 1 Olivier Gribouval
-?/. - c.2187G>T r.(?) p.(=) Unknown - likely benign g.61564046G>T - ACE(NM_000789.4):c.2187G>T (p.R729=) - ACE_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2193A>G r.(?) p.(Ala731=) Unknown - benign g.61564052A>G g.63486691A>G ACE(NM_000789.4):c.2193A>G (p.A731=) - ACE_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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