Full data view for gene HECTD1

Information The variants shown are described using the NM_015382.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.140C>T r.(?) p.(Thr47Ile) Unknown - likely pathogenic (dominant) g.31675003G>A g.31205797G>A - - HECTD1_000054 - PubMed: Zerafati-Jahromi 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
-/. - c.476A>G r.(?) p.(His159Arg) Parent #2 - likely pathogenic (dominant) g.31644244T>C g.31175038T>C - - HECTD1_000053 - PubMed: Zerafati-Jahromi 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat14 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.710T>C r.(?) p.(Leu237Ser) Unknown - likely pathogenic (dominant) g.31642906A>G g.31173700A>G - - HECTD1_000052 - PubMed: Zerafati-Jahromi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.710T>C r.(?) p.(Leu237Ser) Unknown - likely pathogenic (dominant) g.31642906A>G g.31173700A>G - - HECTD1_000052 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 53609 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.807T>G r.(?) p.(Asp269Glu) Unknown - VUS g.31642809A>C g.31173603A>C - - HECTD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (dominant) g.31642744G>A g.31173538G>A - - HECTD1_000051 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 117451 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.1073C>T r.(?) p.(Ser358Phe) Unknown - likely pathogenic (dominant) g.31642445G>A g.31173239G>A - - HECTD1_000050 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 5352 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.1111C>G r.(?) p.(Arg371Gly) Unknown - likely pathogenic (dominant) g.31642407G>C g.31173201G>C - - HECTD1_000049 - PubMed: Zerafati-Jahromi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.1333-6_1333-4del r.spl p.? Unknown - likely pathogenic (dominant) g.31638678_31638680del g.31169472_31169474del - - HECTD1_000048 - PubMed: Zerafati-Jahromi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat10 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1658A>G r.(?) p.(His553Arg) Unknown - VUS g.31626474T>C g.31157268T>C HECTD1(NM_015382.4):c.1658A>G (p.H553R) - HECTD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2070T>C r.(?) p.(Ser690=) Unknown - likely benign g.31619290A>G - HECTD1(NM_015382.4):c.2070T>C (p.S690=) - HECTD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2082C>G r.(?) p.(Phe694Leu) Unknown - likely pathogenic (dominant) g.31619278G>C g.31150072G>C - - HECTD1_000047 - PubMed: Zerafati-Jahromi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.2349dup r.(?) p.(Asp784ArgfsTer8) Unknown - likely pathogenic (dominant) g.31618174dup g.31148968dup - - HECTD1_000046 - PubMed: Zerafati-Jahromi 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
?/. - c.2455G>T r.(?) p.(Gly819Cys) Unknown - VUS g.31617968C>A - HECTD1(NM_015382.4):c.2455G>T (p.G819C) - HECTD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2644G>C r.(?) p.(Glu882Gln) Unknown - likely pathogenic (dominant) g.31613451C>G g.31144245C>G - - HECTD1_000045 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? RUMC_Pat872 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.2655G>A r.(?) p.(Trp885Ter) Unknown - VUS g.31613440C>T g.31144234C>T HECTD1(NM_015382.4):c.2655G>A (p.W885*) - HECTD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2764dup r.(?) p.(Thr922AsnfsTer6) Unknown - likely pathogenic (dominant) g.31613331dup g.31144125dup - - HECTD1_000044 - PubMed: Iossifov 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 13711.p1 PubMed: Iossifov 2014 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.2821_2822insT r.(?) p.(Glu941Valfs*7) Unknown - VUS g.31611115_31611116insA - HECTD1(NM_015382.4):c.2821_2822insT (p.(Glu941Valfs*7)) - HECTD1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2842A>G r.(?) p.(Thr948Ala) Unknown - likely benign g.31611095T>C - HECTD1(NM_015382.4):c.2842A>G (p.T948A) - HECTD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3068A>G r.(?) p.(Glu1023Gly) Unknown - likely pathogenic (dominant) g.31605783T>C g.31136577T>C - - HECTD1_000043 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 71821 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.3346G>A r.(?) p.(Asp1116Asn) Unknown - likely pathogenic (dominant) g.31604310C>T g.31135104C>T - - HECTD1_000042 - PubMed: Zerafati-Jahromi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.3350T>C r.(?) p.(Ile1117Thr) Unknown - likely pathogenic (dominant) g.31604306A>G g.31135100A>G - - HECTD1_000041 - PubMed: Zerafati-Jahromi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.3670G>T r.(?) p.(Gly1224Ter) Unknown - likely pathogenic (dominant) g.31602790C>A g.31133584C>A - - HECTD1_000040 - PubMed: Zerafati-Jahromi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.3709T>A r.(?) p.(Tyr1237Asn) Unknown - likely pathogenic (dominant) g.31602751A>T g.31133545A>T - - HECTD1_000039 - PubMed: Zerafati-Jahromi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.3745+4A>G r.spl? p.? Unknown - VUS g.31602711T>C - HECTD1(NM_015382.2):c.3745+4A>G (p.?) - HECTD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3839T>G r.(?) p.(Val1280Gly) Unknown - likely pathogenic (dominant) g.31602527A>C g.31133321A>C - - HECTD1_000038 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 27672 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.3994C>T r.(?) p.(Leu1332Phe) Unknown - likely pathogenic (dominant) g.31598583G>A g.31129377G>A - - HECTD1_000037 - PubMed: Zerafati-Jahromi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.4130G>T r.(?) p.(Gly1377Val) Unknown - VUS g.31598447C>A g.31129241C>A HECTD1(NM_015382.4):c.4130G>T (p.G1377V) - HECTD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4171G>A r.(?) p.(Val1391Met) Unknown - VUS g.31598406C>T - HECTD1(NM_015382.4):c.4171G>A (p.V1391M) - HECTD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4202C>T r.(?) p.(Ser1401Leu) Unknown - VUS g.31598375G>A - HECTD1(NM_015382.4):c.4202C>T (p.S1401L) - HECTD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4263T>A r.(?) p.(Asp1421Glu) Unknown - VUS g.31598314A>T - HECTD1(NM_015382.2):c.4263T>A (p.(Asp1421Glu)) - HECTD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4552G>T r.(?) p.(Val1518Leu) Unknown - VUS g.31598025C>A g.31128819C>A HECTD1(NM_015382.4):c.4552G>T (p.V1518L) - HECTD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4552G>T r.(?) p.(Val1518Leu) Unknown - likely pathogenic (dominant) g.31598025C>A g.31128819C>A - - HECTD1_000014 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? SP0123550 PubMed: Zhou 2022 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.4720A>C r.(?) p.(Asn1574His) Unknown - VUS g.31597857T>G - HECTD1(NM_015382.4):c.4720A>C (p.N1574H) - HECTD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4998C>T r.(?) p.(Cys1666=) Unknown - likely benign g.31592237G>A - HECTD1(NM_015382.4):c.4998C>T (p.C1666=) - HECTD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5056G>A r.(?) p.(Glu1686Lys) Unknown - VUS g.31592179C>T g.31122973C>T HECTD1(NM_015382.4):c.5056G>A (p.E1686K) - HECTD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5115+1G>A r.spl? p.? Unknown - VUS g.31592119C>T - HECTD1(NM_015382.4):c.5115+1G>A - HECTD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5227A>G r.(?) p.(Ile1743Val) Unknown - likely pathogenic (dominant) g.31590600T>C g.31121394T>C - - HECTD1_000036 - PubMed: Zhou 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? SP0130244 PubMed: Zhou 2022 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.5228T>C r.(?) p.(Ile1743Thr) Unknown - VUS g.31590599A>G g.31121393A>G HECTD1(NM_015382.4):c.5228T>C (p.I1743T) - HECTD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5277A>T r.(?) p.(Arg1759Ser) Unknown - VUS g.31589034T>A g.31119828T>A HECTD1(NM_015382.4):c.5277A>T (p.R1759S) - HECTD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5744C>G r.(?) p.(Thr1915Ser) Unknown - VUS g.31583195G>C - HECTD1(NM_015382.2):c.5744C>G (p.(Thr1915Ser)) - HECTD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5767G>A r.(?) p.(Ala1923Thr) Unknown - likely benign g.31583172C>T g.31113966C>T HECTD1(NM_015382.4):c.5767G>A (p.A1923T) - HECTD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5951C>T r.(?) p.(Pro1984Leu) Unknown - likely pathogenic (dominant) g.31582596G>A g.31113390G>A - - HECTD1_000035 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 3456 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.5975A>G r.(?) p.(Gln1992Arg) Unknown - VUS g.31582572T>C - HECTD1(NM_015382.2):c.5975A>G (p.(Gln1992Arg)) - HECTD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6151-4G>A r.spl? p.? Unknown - likely benign g.31581753C>T g.31112547C>T HECTD1(NM_015382.4):c.6151-4G>A - HECTD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6271G>A r.(?) p.(Ala2091Thr) Unknown - likely benign g.31581629C>T g.31112423C>T - - HECTD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6271G>A r.(?) p.(Ala2091Thr) Unknown - likely pathogenic (dominant) g.31581629C>T g.31112423C>T - - HECTD1_000006 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? RUMC_Pat476 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.6322C>T r.(?) p.(Arg2108*) Unknown - VUS g.31578761G>A - HECTD1(NM_015382.4):c.6322C>T (p.R2108*) - HECTD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6350G>A r.(?) p.(Arg2117Gln) Unknown - VUS g.31578733C>T - HECTD1(NM_015382.4):c.6350G>A (p.R2117Q) - HECTD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6370C>T r.(?) p.(Arg2124Ter) Unknown - likely pathogenic (dominant) g.31578713G>A g.31109507G>A - - HECTD1_000034 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? DDD13k.04533 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.6445A>C r.(?) p.(Met2149Leu) Unknown - VUS g.31578638T>G g.31109432T>G HECTD1(NM_015382.4):c.6445A>C (p.M2149L) - HECTD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6500A>G r.(?) p.(Glu2167Gly) Unknown - likely pathogenic (dominant) g.31576891T>C g.31107685T>C - - HECTD1_000033 - PubMed: Kaplanis 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? DDD13k.02131 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.6536del r.(?) p.(Ala2179ValfsTer35) Parent #1 - likely pathogenic (dominant) g.31576855del g.31107649del 6536delC - HECTD1_000032 - PubMed: Zerafati-Jahromi 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat14 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.7070C>G r.(?) p.(Ala2357Gly) Unknown - likely pathogenic (dominant) g.31576008G>C g.31106802G>C - - HECTD1_000031 - PubMed: Homsy 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 1-02563 PubMed: Homsy 2015 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.7135C>T r.(?) p.(Leu2379Phe) Unknown - likely pathogenic (dominant) g.31575943G>A g.31106737G>A - - HECTD1_000030 - PubMed: Zerafati-Jahromi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.7433dup r.(?) p.(Leu2478PhefsTer7) Unknown - likely pathogenic (dominant) g.31572240dup g.31103034dup - - HECTD1_000029 - PubMed: Zerafati-Jahromi 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat13 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
?/. - c.7551-6T>C r.(=) p.(=) Unknown - VUS g.31570536A>G g.31101330A>G HECTD1(NM_015382.2):c.7551-6T>C (p.(=)) - HECTD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7561C>T r.(?) p.(Leu2521=) Unknown - likely benign g.31570520G>A g.31101314G>A HECTD1(NM_015382.4):c.7561C>T (p.L2521=) - HECTD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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