Full data view for gene HERC2

Information The variants shown are described using the NM_004667.5 transcript reference sequence.

232 entries on 3 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     
-?/. - c.-31G>A r.(?) p.(=) Unknown - likely benign g.28566610C>T - HERC2(NM_004667.6):c.-31G>A - HERC2_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 56i_93_ c.8826-1802_*726{0} r.? p.? Unknown - pathogenic g.28143765_28429460del g.27898619_28184314del - - HERC2_000000 - PubMed: Morice-Picard 2016 - - Germline yes - - - - DNA arrayCGH - - ? patient PubMed: Morice-Picard 2016 - M yes France Africa 02y - - - 1 Morice-Picard
-?/. - c.187+7G>A r.(=) p.(=) Unknown - likely benign g.28544541C>T g.28299395C>T HERC2(NM_004667.5):c.187+7G>A - HERC2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233A>G r.(?) p.(Asp78Gly) Unknown - VUS g.28538123T>C - HERC2(NM_004667.6):c.233A>G (p.(Asp78Gly)) - HERC2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293T>C r.(?) p.(Leu98Pro) Unknown - VUS g.28538063A>G g.28292917A>G HERC2(NM_004667.5):c.293T>C (p.L98P), HERC2(NM_004667.6):c.293T>C (p.(Leu98Pro), p.L98P) - HERC2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293T>C r.(?) p.(Leu98Pro) Unknown - VUS g.28538063A>G - HERC2(NM_004667.5):c.293T>C (p.L98P), HERC2(NM_004667.6):c.293T>C (p.(Leu98Pro), p.L98P) - HERC2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293T>C r.(?) p.(Leu98Pro) Unknown - VUS g.28538063A>G - HERC2(NM_004667.5):c.293T>C (p.L98P), HERC2(NM_004667.6):c.293T>C (p.(Leu98Pro), p.L98P) - HERC2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293T>C r.(?) p.(Leu98Pro) Unknown - VUS g.28538063A>G - HERC2(NM_004667.5):c.293T>C (p.L98P), HERC2(NM_004667.6):c.293T>C (p.(Leu98Pro), p.L98P) - HERC2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326T>C r.(?) p.(Val109Ala) Unknown - likely benign g.28525430A>G - HERC2(NM_004667.5):c.326T>C (p.V109A) - HERC2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547C>T r.(?) p.(Arg183Trp) Unknown - VUS g.28520147G>A - HERC2(NM_004667.5):c.547C>T (p.R183W) - HERC2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.643+5G>A r.spl? p.? Unknown - likely benign g.28520046C>T g.28274900C>T HERC2(NM_004667.5):c.643+5G>A - HERC2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.643+8C>T r.(=) p.(=) Unknown - likely benign g.28520043G>A - HERC2(NM_004667.6):c.643+8C>T - HERC2_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738G>A r.(?) p.(Val246=) Unknown - likely benign g.28519499C>T - HERC2(NM_004667.5):c.738G>A (p.V246=) - HERC2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.836del r.(?) p.(Gly279Glufs*25) Unknown - likely benign g.28518116del - HERC2(NM_004667.6):c.836delG (p.G279Efs*25) - HERC2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.905C>T r.(?) p.(Thr302Met) Unknown - likely benign g.28518046G>A g.28272900G>A HERC2(NM_004667.5):c.905C>T (p.(Thr302Met)) - HERC2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012T>G r.(?) p.(Leu338Val) Unknown - likely benign g.28517432A>C - HERC2(NM_004667.6):c.1012T>G (p.L338V) - HERC2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1015C>T r.(?) p.(Pro339Ser) Unknown - VUS g.28517429G>A g.28272283G>A HERC2(NM_004667.5):c.1015C>T (p.P339S), HERC2(NM_004667.6):c.1015C>T (p.P339S) - HERC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1015C>T r.(?) p.(Pro339Ser) Unknown - likely benign g.28517429G>A g.28272283G>A HERC2(NM_004667.5):c.1015C>T (p.P339S), HERC2(NM_004667.6):c.1015C>T (p.P339S) - HERC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1083C>T r.(?) p.(His361=) Unknown - benign g.28517361G>A g.28272215G>A HERC2(NM_004667.5):c.1083C>T (p.H361=) - HERC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150G>A r.(?) p.(Glu384Lys) Unknown - VUS g.28515948C>T g.28270802C>T HERC2(NM_004667.5):c.1150G>A (p.E384K) - HERC2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1403G>A r.(?) p.(Arg468His) Unknown - VUS g.28514437C>T - HERC2(NM_004667.6):c.1403G>A (p.(Arg468His)) - HERC2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1731C>T r.(?) p.(Arg577=) Unknown - likely benign g.28510988G>A g.28265842G>A HERC2(NM_004667.5):c.1731C>T (p.R577=) - HERC2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 14 c.1781C>T r.1781c>u p.Pro594Leu Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 not in 760 control chromosomes - - - Germline - - - - - DNA, RNA MCA, RT-PCR, SEQ - - ? - - 3 families (7 patients) F yes United States Old Order Amish - - - - 7 Erik G. Puffenberger
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatVIII7 PubMed: Harlalka 2013 large multigeneration family, 11 affected (7F, 4M) F yes United Kingdom (Great Britain) - - - - - 11 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatVIII8 PubMed: Harlalka 2013 - M yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatIX1 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatIX6 PubMed: Harlalka 2013 - M yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatIX7 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatX1 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatX2 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatX4 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatX5 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatXI2 PubMed: Harlalka 2013 - M yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamAPatXI3 PubMed: Harlalka 2013 - M yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamBPatIX8 PubMed: Harlalka 2013 9-generation family, 4 affected (2F, 2M) M yes United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamBPatIX10 PubMed: Harlalka 2013 brother M yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamBPatIX1 PubMed: Harlalka 2013 sister F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Harlalka 2013 - - Germline yes - - - - DNA SEQ - - ID FamBPatIX2 PubMed: Harlalka 2013 sister F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Puffenberger 2012 - - Germline yes - - - - DNA SEQ - - ID Michigan-P1 PubMed: Puffenberger 2012 - - yes United States Amish - - - - 3 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Puffenberger 2012 - - Germline yes - - - - DNA SEQ - - ID Michigan-P2 PubMed: Puffenberger 2012 - - yes United States Amish - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Puffenberger 2012 - - Germline yes - - - - DNA SEQ - - ID Michigan-P3 PubMed: Puffenberger 2012 - - yes United States Amish - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Puffenberger 2012 - - Germline yes - - - - DNA SEQ - - ID Wisconsin-P1 PubMed: Puffenberger 2012 - F yes United States Amish‐Mennonite - - - - 2 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Puffenberger 2012 - - Germline yes - - - - DNA SEQ - - ID Wisconsin-P2 PubMed: Puffenberger 2012 - F yes United States Amish‐Mennonite - - - - 1 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Puffenberger 2012, PubMed: Abraham 2019 - - Germline yes - - - - DNA SEQ - - ID Ohio-P1;#1 PubMed: Puffenberger 2012, PubMed: Abraham 2019 - F - United States Amish - - - - 2 Johan den Dunnen
+/. - c.1781C>T r.(?) p.(Pro594Leu) Both (homozygous) - pathogenic (recessive) g.28510853G>A g.28265707G>A - - HERC2_000001 - PubMed: Puffenberger 2012, PubMed: Abraham 2019 - - Germline yes - - - - DNA SEQ - - ID Ohio-P2;#2 PubMed: Puffenberger 2012, PubMed: Abraham 2019 - M - United States Amish - - - - 1 Johan den Dunnen
-?/. - c.1794C>T r.(?) p.(Ala598=) Unknown - likely benign g.28510840G>A g.28265694G>A HERC2(NM_004667.5):c.1794C>T (p.A598=) - HERC2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2030A>G r.(?) p.(Gln677Arg) Unknown - VUS g.28508156T>C g.28263010T>C HERC2(NM_004667.5):c.2030A>G (p.Q677R) - HERC2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2317-3T>C r.spl? p.? Unknown - likely benign g.28502410A>G g.28257264A>G HERC2(NM_004667.5):c.2317-3T>C - HERC2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2379_2382delinsTATT r.(?) p.(=) Unknown - likely benign g.28502342_28502345delinsAATA - HERC2(NM_004667.6):c.2379_2382delinsTATT (p.(Asp793=)) - HERC2_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2382C>T r.(?) p.(=) Unknown - VUS g.28502342G>A - HERC2(NM_004667.6):c.2382C>T (p.(Ile794=)) - HERC2_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2389A>G r.(?) p.(Met797Val) Unknown - benign g.28502335T>C g.28257189T>C HERC2(NM_004667.5):c.2389A>G (p.M797V), HERC2(NM_004667.6):c.2389A>G (p.(Met797Val)) - HERC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2389A>G r.(?) p.(Met797Val) Unknown - likely benign g.28502335T>C - HERC2(NM_004667.5):c.2389A>G (p.M797V), HERC2(NM_004667.6):c.2389A>G (p.(Met797Val)) - HERC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2448C>T r.(?) p.(Ser816=) Unknown - benign g.28502276G>A g.28257130G>A HERC2(NM_004667.5):c.2448C>T (p.S816=) - HERC2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2747-3C>A r.spl? p.? Unknown - VUS g.28501145G>T - HERC2(NM_004667.5):c.2747-3C>A - HERC2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2766C>G r.(?) p.(Asn922Lys) Unknown - VUS g.28501123G>C - HERC2(NM_004667.5):c.2766C>G (p.(Asn922Lys)) - HERC2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3140G>A r.(?) p.(Arg1047Lys) Unknown - likely benign g.28493793C>T g.28248647C>T HERC2(NM_004667.5):c.3140G>A (p.(Arg1047Lys)) - HERC2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3260C>A r.(?) p.(Ser1087Tyr) Unknown - VUS g.28492019G>T - HERC2(NM_004667.6):c.3260C>A (p.(Ser1087Tyr)) - HERC2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3705A>G r.(?) p.(Ile1235Met) Unknown - VUS g.28483791T>C - HERC2(NM_004667.6):c.3705A>G (p.I1235M) - HERC2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3763G>A r.(?) p.(Glu1255Lys) Unknown - VUS g.28483349C>T - HERC2(NM_004667.6):c.3763G>A (p.(Glu1255Lys)) - HERC2_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3903T>A r.(?) p.(Pro1301=) Unknown - benign g.28482209A>T g.28237063A>T HERC2(NM_004667.5):c.3903T>A (p.P1301=) - HERC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4009C>T r.(?) p.(Leu1337Phe) Unknown - benign g.28479425G>A g.28234279G>A HERC2(NM_004667.5):c.4009C>T (p.L1337F) - HERC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4126C>T r.(?) p.(Arg1376Ter) Unknown - likely pathogenic g.28479308G>A g.28234162G>A HERC2(NM_004667.5):c.4126C>T (p.R1376*) - HERC2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4145G>A r.(?) p.(Arg1382Gln) Unknown - VUS g.28479289C>T - HERC2(NM_004667.6):c.4145G>A (p.(Arg1382Gln)) - HERC2_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4235T>C r.(?) p.(Ile1412Thr) Unknown - VUS g.28478926A>G - HERC2(NM_004667.5):c.4235T>C (p.I1412T) - HERC2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4309G>C r.(?) p.(Gly1437Arg) Unknown - VUS g.28478852C>G g.28233706C>G HERC2(NM_004667.6):c.4309G>C (p.G1437R) - HERC2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4605A>G r.(?) p.(Lys1535=) Unknown - likely benign g.28478362T>C g.28233216T>C HERC2(NM_004667.5):c.4605A>G (p.K1535=) - HERC2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4625G>A r.(?) p.(Arg1542His) Both (homozygous) - pathogenic (recessive) g.28478342C>T g.28233196C>T - - HERC2_000131 - PubMed: Abraham 2019 - - Germline - - - - - DNA SEQ - - ID #3 PubMed: Abraham 2019 - M - United States Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.4625G>A r.(?) p.(Arg1542His) Both (homozygous) - pathogenic (recessive) g.28478342C>T g.28233196C>T - - HERC2_000131 - PubMed: Abraham 2019 - - Germline - - - - - DNA SEQ - - ID #4 PubMed: Abraham 2019 - F - United States Pakistan - - - - 1 Johan den Dunnen
-?/. - c.4625G>A r.(?) p.(Arg1542His) Unknown - likely benign g.28478342C>T - HERC2(NM_004667.6):c.4625G>A (p.(Arg1542His)) - HERC2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4651A>C r.(?) p.(Ile1551Leu) Unknown - VUS g.28478316T>G g.28233170T>G HERC2(NM_004667.5):c.4651A>C (p.I1551L), HERC2(NM_004667.6):c.4651A>C (p.I1551L) - HERC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4651A>C r.(?) p.(Ile1551Leu) Unknown - VUS g.28478316T>G g.28233170T>G HERC2(NM_004667.5):c.4651A>C (p.I1551L), HERC2(NM_004667.6):c.4651A>C (p.I1551L) - HERC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4676-1G>A r.spl? p.? Both (homozygous) ACMG likely pathogenic g.28475647C>T g.28230501C>T - - HERC2_000003 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - MRT38 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
?/. - c.4723G>A r.(?) p.(Glu1575Lys) Unknown - VUS g.28475599C>T - HERC2(NM_004667.5):c.4723G>A (p.(Glu1575Lys)) - HERC2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4742_4744del r.(?) p.(Glu1581del) Unknown - VUS g.28475583_28475585del - HERC2(NM_004667.5):c.4742_4744delAAG (p.E1581del) - HERC2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4809+3G>C r.spl? p.? Unknown - likely benign g.28475510C>G g.28230364C>G HERC2(NM_004667.5):c.4809+3G>C - HERC2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4892C>T r.(?) p.(Pro1631Leu) Unknown - VUS g.28474911G>A g.28229765G>A HERC2(NM_004667.5):c.4892C>T (p.P1631L) - HERC2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5040C>G r.(?) p.(Ser1680Arg) Unknown - likely benign g.28474686G>C g.28229540G>C HERC2(NM_004667.6):c.5040C>G (p.S1680R) - HERC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5057C>T r.(?) p.(Pro1686Leu) Unknown - VUS g.28474669G>A g.28229523G>A HERC2(NM_004667.5):c.5057C>T (p.P1686L) - HERC2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5213G>C r.(?) p.(Trp1738Ser) Unknown - VUS g.28474400C>G - HERC2(NM_004667.5):c.5213G>C (p.W1738S) - HERC2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5213G>C r.(?) p.(Trp1738Ser) Unknown - VUS g.28474400C>G - HERC2(NM_004667.5):c.5213G>C (p.W1738S) - HERC2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5315C>T r.(?) p.(Pro1772Leu) Unknown - likely benign g.28473513G>A - HERC2(NM_004667.6):c.5315C>T (p.(Pro1772Leu)) - HERC2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5391C>T r.(?) p.(His1797=) Unknown - likely benign g.28473437G>A - HERC2(NM_004667.5):c.5391C>T (p.H1797=) - HERC2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5429T>C r.(?) p.(Met1810Thr) Unknown - likely benign g.28473399A>G g.28228253A>G HERC2(NM_004667.5):c.5429T>C (p.M1810T) - HERC2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5440A>G r.(?) p.(Thr1814Ala) Unknown - likely benign g.28473388T>C g.28228242T>C HERC2(NM_004667.5):c.5440A>G (p.T1814A) - HERC2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5442G>T r.(?) p.(Thr1814=) Unknown - likely benign g.28473386C>A g.28228240C>A HERC2(NM_004667.5):c.5442G>T (p.T1814=) - HERC2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5566C>T r.(?) p.(Leu1856Phe) Unknown - likely benign g.28467260G>A - HERC2(NM_004667.5):c.5566C>T (p.L1856F) - HERC2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5577A>T r.(?) p.(Ser1859=) Unknown - benign g.28467249T>A g.28222103T>A HERC2(NM_004667.5):c.5577A>T (p.S1859=) - HERC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5588T>C r.(?) p.(Leu1863Pro) Unknown - VUS g.28467238A>G - HERC2(NM_004667.6):c.5588T>C (p.(Leu1863Pro)) - HERC2_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5596A>G r.(?) p.(Met1866Val) Unknown - likely benign g.28467230T>C - HERC2(NM_004667.5):c.5596A>G (p.M1866V) - HERC2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5654A>G r.(?) p.(Asp1885Gly) Unknown - VUS g.28465789T>C - HERC2(NM_004667.5):c.5654A>G (p.(Asp1885Gly)) - HERC2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5799T>A r.(?) p.(Ala1933=) Unknown - likely benign g.28465644A>T - HERC2(NM_004667.5):c.5799T>A (p.A1933=) - HERC2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5809C>T r.(?) p.(Pro1937Ser) Unknown - likely benign g.28465634G>A - HERC2(NM_004667.5):c.5809C>T (p.P1937S) - HERC2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5825C>T r.(?) p.(Ser1942Leu) Unknown - VUS g.28465618G>A g.28220472G>A HERC2(NM_004667.6):c.5825C>T (p.S1942L) - HERC2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5926C>T r.(?) p.(Leu1976=) Unknown - likely benign g.28463737G>A g.28218591G>A HERC2(NM_004667.5):c.5926C>T (p.L1976=) - HERC2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6077C>T r.(?) p.(Thr2026Met) Unknown - VUS g.28460900G>A g.28215754G>A HERC2(NM_004667.5):c.6077C>T (p.T2026M) - HERC2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6110C>T r.(?) p.(Pro2037Leu) Unknown - VUS g.28460867G>A - HERC2(NM_004667.5):c.6110C>T (p.P2037L) - HERC2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6123C>T r.(?) p.(Gly2041=) Unknown - likely benign g.28460854G>A g.28215708G>A HERC2(NM_004667.5):c.6123C>T (p.G2041=) - HERC2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6195C>T r.(?) p.(Thr2065=) Unknown - likely benign g.28460782G>A g.28215636G>A HERC2(NM_004667.5):c.6195C>T (p.T2065=) - HERC2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6261C>T r.(?) p.(Thr2087=) Unknown - likely benign g.28459898G>A - HERC2(NM_004667.5):c.6261C>T (p.T2087=) - HERC2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6385C>T r.(?) p.(Arg2129Cys) Unknown - VUS g.28459392G>A - HERC2(NM_004667.6):c.6385C>T (p.R2129C) - HERC2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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