Full data view for gene EDAR

Information The variants shown are described using the NM_022336.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

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ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Technique     

Tissue     

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Disease     

ID_report     

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Remarks     

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-/. - c.-18-4T>C r.spl? p.? Unknown - benign g.109547492A>G g.108931036A>G EDAR(NM_022336.3):c.-18-4T>C - EDAR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10G>C r.(?) p.(Val4Leu) Unknown - likely benign g.109547461C>G - EDAR(NM_022336.3):c.10G>C (p.(Val4Leu)) - EDAR_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 21 c.52-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.109546700T>C g.108930244T>C - - EDAR_000045 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - HED Pat05 PubMed: Martínez-Romero 2019 - M - Spain - - - - - 1 Johan den Dunnen
?/. - c.52G>A r.(?) p.(Val18Met) Unknown - VUS g.109546698C>T - EDAR(NM_022336.4):c.52G>A (p.(Val18Met)) - EDAR_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.57T>A r.(?) p.(Ser19=) Unknown - benign g.109546693A>T g.108930237A>T EDAR(NM_022336.3):c.57T>A (p.S19=) - EDAR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68C>T r.(?) p.(Ser23Leu) Unknown - likely benign g.109546682G>A - EDAR(NM_022336.3):c.68C>T (p.(Ser23Leu)) - EDAR_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.71C>A r.(?) p.(Ala24Asp) Both (homozygous) - likely pathogenic (recessive) g.109546679G>T g.108930223G>T - - EDAR_000044 - PubMed: Bodemer 2019 - - Germline - - - - - DNA SEQ - - ECTD EDA_F2 PubMed: Bodemer 2019 - M yes Turkey - - - - - 1 Johan den Dunnen
+?/. 3 c.71C>A r.(?) p.(Ala24Asp) Both (homozygous) - likely pathogenic (recessive) g.109546679G>T g.108930223G>T - - EDAR_000044 - PubMed: Bodemer 2019 - - Germline - - - - - DNA SEQ - - ECTD EDA_F5 PubMed: Bodemer 2019 - M yes Turkey - - - - - 1 Johan den Dunnen
+?/. 3 c.71C>A r.(?) p.(Ala24Asp) Both (homozygous) - likely pathogenic (recessive) g.109546679G>T g.108930223G>T - - EDAR_000044 - PubMed: Bodemer 2019 - - Germline - - - - - DNA SEQ - - ECTD EDAR_F5 PubMed: Bodemer 2019 - M yes Turkey - - - - - 1 Johan den Dunnen
+/. 3 c.126del r.(?) p.(Leu43Cysfs*60) Both (homozygous) - pathogenic (recessive) g.109546627del g.108930171del - - EDAR_000010 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - - - DNA SEQ - - ECTD10B - PubMed: Wohlfart 2016 - - ? Germany - - - - - 1 Sigrun Maier-Wohlfart
+/. - c.126del r.(?) p.(Leu43Cysfs*60) Parent #2 - pathogenic (recessive) g.109546627del g.108930171del - - EDAR_000010 - - - - Germline - - - - - DNA SEQ - - ECTD10B - - - F no Germany - - - - - 1 Sigrun Maier-Wohlfart
+/. 3 c.126del r.(?) p.(Leu43Cysfs*60) Both (homozygous) - pathogenic (recessive) g.109546627del g.108930171del - - EDAR_000010 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - - - DNA SEQ - - ECTD10B - PubMed: Wohlfart 2016 - - no Germany - - - - - 1 Sigrun Maier-Wohlfart
+/. 3 c.126del r.(?) p.(Leu43Cysfs*60) Both (homozygous) - pathogenic (recessive) g.109546627del g.108930171del - - EDAR_000010 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - - - DNA SEQ - - ECTD10B - PubMed: Wohlfart 2016 - - no Germany - - - - - 1 Sigrun Maier-Wohlfart
+/. 3 c.156_157delinsC r.(?) p.(Gly53Glufs*50) Both (homozygous) - pathogenic g.109546593_109546594delinsG g.108930137_108930138delinsG - - EDAR_000003 - PubMed: Cluzeau 2011 - - Germline - - - - - DNA SEQ - - ECTD10B - PubMed: Cluzeau 2011 - M yes Turkey - >03y - - - 1 Johan den Dunnen
-/. - c.207C>T r.(?) p.(Tyr69=) Unknown - benign g.109545803G>A g.108929347G>A EDAR(NM_022336.4):c.207C>T (p.Y69=) - EDAR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.212G>A r.(?) p.(Cys71Tyr) Parent #2 - pathogenic (recessive) g.109545798C>T g.108929342C>T - - EDAR_000043 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - HED Pat05 PubMed: Martínez-Romero 2019 - M - Spain - - - - - 1 Johan den Dunnen
+?/. 4 c.245G>A r.(?) p.(Gly82Glu) Both (homozygous) - likely pathogenic (recessive) g.109545765C>T g.108929309C>T - - EDAR_000042 - PubMed: Bodemer 2019 - - Germline - - - - - DNA SEQ - - ECTD EDAR_F6 PubMed: Bodemer 2019 - M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.266G>A r.(?) p.(Arg89His) Parent #1 - pathogenic g.109545744C>T g.108929288C>T - - EDAR_000031 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908450 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 4 c.266G>A r.(?) p.(Arg89His) Parent #1 - pathogenic g.109545744C>T g.108929288C>T - - EDAR_000031 - PubMed: van der Hout 2008 - - Germline - - - - - DNA SEQ - - HED Fam1 PubMed: van der Hout 2008 2-generation family, 2 affected brothers, mildly affected mother M - Netherlands - - - - - 2 Johan den Dunnen
+?/. 4 c.276_277insGCC r.(?) p.(Asp92_Cys93insAla) Both (homozygous) - likely pathogenic (recessive) g.109545734_109545735insGCG g.108929278_108929279insGCG c.276-277insGCC - EDAR_000041 - PubMed: Bodemer 2019 - - Germline - - - - - DNA SEQ - - ECTD EDA_F3 PubMed: Bodemer 2019 - M yes Turkey - - - - - 1 Johan den Dunnen
-/. - c.319A>G r.(?) p.(Met107Val) Unknown - benign g.109545691T>C - EDAR(NM_022336.4):c.319A>G (p.(Met107Val)) - EDAR_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.329A>C r.(?) p.(Asp110Ala) Parent #1 - pathogenic g.109545681T>G g.108929225T>G - - EDAR_000040 - PubMed: van der Hout 2008 - - Germline - - - - - DNA SEQ - - HED Fam1 PubMed: van der Hout 2008 2-generation family, 2 affected brothers, mildly affected mother M - Netherlands - - - - - 2 Johan den Dunnen
?/. - c.343C>G r.(?) p.(Pro115Ala) Unknown - VUS g.109545667G>C - EDAR(NM_022336.4):c.343C>G (p.(Pro115Ala)) - EDAR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.346T>C r.(?) p.(Cys116Arg) Parent #1 - likely pathogenic (recessive) g.109545664A>G g.108929208A>G g.60165T>C - EDAR_000033 - - - - Unknown - - - - - DNA SEQ - - ECTD10B - - - F no Germany - - - - - 1 Sigrun Maier-Wohlfart
?/. - c.352C>T r.(?) p.(Pro118Ser) Unknown - VUS g.109545658G>A - EDAR(NM_022336.4):c.352C>T (p.(Pro118Ser)) - EDAR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - VUS g.109539892T>C - EDAR(NM_022336.3):c.374A>G (p.(Asn125Ser)) - EDAR_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.439G>T r.(?) p.(Glu147Ter) Unknown - pathogenic g.109539827C>A g.108923371C>A EDAR(NM_022336.4):c.439G>T (p.E147*) - EDAR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.486del r.(?) p.(Ser163Argfs*26) Both (homozygous) - pathogenic (recessive) g.109529178del g.108912722del 486delC - EDAR_000009 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - - - DNA SEQ - - ECTD10B - PubMed: Wohlfart 2016 - - yes Germany - - - - - 1 Sigrun Maier-Wohlfart
+/. 6 c.486del r.(?) p.(Ser163Argfs*26) Both (homozygous) - pathogenic (recessive) g.109529178del g.108912722del 486delC - EDAR_000009 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - - - DNA SEQ - - ECTD10B - PubMed: Wohlfart 2016 - - no Germany - - - - - 1 Sigrun Maier-Wohlfart
+/. 6 c.486del r.(?) p.(Ser163Argfs*26) Both (homozygous) - pathogenic (recessive) g.109529178del g.108912722del 486delC - EDAR_000009 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - - - DNA SEQ - - ECTD10B - PubMed: Wohlfart 2016 - - no Germany - - - - - 1 Sigrun Maier-Wohlfart
+?/. - c.486del r.(?) p.(Ser163Argfs*26) Unknown - likely pathogenic g.109529178del g.108912722del - - EDAR_000009 - PubMed: Nair 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-IT - WES NDD - PubMed: Nair 2018 - - - Lebanon - - - - - 1 Johan den Dunnen
-/. - c.655+30T>C r.(=) p.(=) Unknown - benign g.109527373A>G g.108910917A>G EDAR(NM_022336.4):c.655+30T>C - EDAR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.709G>A r.(?) p.(Glu237Lys) Unknown - VUS g.109527253C>T - EDAR(NM_022336.3):c.709G>A (p.(Glu237Lys)) - EDAR_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.723G>A r.(?) p.(Glu241=) Unknown - likely benign g.109527239C>T - EDAR(NM_022336.4):c.723G>A (p.E241=) - EDAR_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.750C>T r.(?) p.(Ser250=) Unknown - benign g.109526969G>A g.108910513G>A EDAR(NM_022336.4):c.750C>T (p.S250=) - EDAR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.804-42C>A r.(=) p.(=) Unknown - benign g.109524517G>T g.108908061G>T EDAR(NM_022336.4):c.804-42C>A - EDAR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.813T>C r.(?) p.(Asp271=) Unknown - likely benign g.109524466A>G g.108908010A>G EDAR(NM_022336.4):c.813T>C (p.D271=) - EDAR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.845G>A r.(?) p.(Arg282Gln) Unknown - VUS g.109524434C>T g.108907978C>T EDAR(NM_022336.3):c.845G>A (p.(Arg282Gln)) - EDAR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870C>T r.(?) p.(Pro290=) Unknown - likely benign g.109524409G>A g.108907953G>A EDAR(NM_022336.4):c.870C>T (p.P290=) - EDAR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.875_876del r.(?) p.(Pro292Argfs*52) Unknown - pathogenic g.109524403_109524404del g.108907947_108907948del - - EDAR_000004 - PubMed: Cluzeau 2011 - - Germline - - - - - DNA SEQ - - ECTD10A - PubMed: Cluzeau 2011 - F no Portugal - >37y - - - 1 Johan den Dunnen
+/. - c.903C>A r.(?) p.(Cys301*) Paternal (confirmed) - pathogenic (!) g.109524376G>T g.108907920G>T - - EDAR_000048 variant associated with ectodermal dysplasia (high phenotypic variability,reduced penetrance) inherited from asymptomatic father PubMed: Ferrer 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ATOD, ECTD, WITKOS patient PubMed: Ferrer 2019 3-generation family, 1 triple affected F - United States - - - - - 1 Johan den Dunnen
-?/. - c.960C>T r.(?) p.(Ala320=) Unknown - likely benign g.109524319G>A - EDAR(NM_022336.4):c.960C>T (p.A320=) - EDAR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.963+125A>G r.(=) p.(=) Unknown - benign g.109524191T>C g.108907735T>C EDAR(NM_022336.4):c.963+125A>G - EDAR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.964-7_964-6del r.(=) p.(=) Unknown - likely benign g.109522833_109522834del - EDAR(NM_022336.4):c.964-7_964-6del - EDAR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.964-1G>C r.spl? p.? Unknown - pathogenic g.109522825C>G g.108906369C>G EDAR(NM_022336.4):c.964-1G>C - EDAR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.964-1G>C r.spl? p.? Unknown - pathogenic g.109522825C>G g.108906369C>G EDAR(NM_022336.4):c.964-1G>C - EDAR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.973C>T r.(?) p.(Arg325Trp) Unknown - likely pathogenic g.109522815G>A g.108906359G>A EDAR(NM_022336.4):c.973C>T (p.R325W) - EDAR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.973C>T r.(?) p.(Arg325Trp) Unknown - likely pathogenic g.109522815G>A - EDAR(NM_022336.4):c.973C>T (p.R325W) - EDAR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1011T>G r.(?) p.(Cys337Trp) Parent #1 - likely pathogenic (recessive) g.109522777A>C g.108906321A>C - - EDAR_000039 - PubMed: Bodemer 2019 - - Germline - - - - - DNA SEQ - - ECTD EDA_F6 PubMed: Bodemer 2019 - M no Turkey - - - - - 1 Johan den Dunnen
+?/. - c.1012G>A r.(?) p.(Gly338Arg) Parent #2 - likely pathogenic (recessive) g.109522776C>T g.108906320C>T - - EDAR_000038 - PubMed: Bodemer 2019 - - Germline - - - - - DNA SEQ - - ECTD EDAR_F4 PubMed: Bodemer 2019 - F no Turkey - - - - - 1 Johan den Dunnen
-/. - c.1024+16del r.(=) p.(=) Unknown - benign g.109522755del g.108906299del EDAR(NM_022336.4):c.1024+16delA - EDAR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1052_1055del r.(?) p.(Asp351Alafs*20) Parent #1 - pathogenic g.109513658_109513661del g.108897202_108897205del 1049_1052del - EDAR_000005 - PubMed: Cluzeau 2011 - - Germline yes - - - - DNA SEQ - - ECTD10A - PubMed: Cluzeau 2011 - F no - Sefarad >10y - - - 1 Johan den Dunnen
-/. - c.1056C>T r.(?) p.(Cys352=) Unknown - benign g.109513654G>A g.108897198G>A EDAR(NM_022336.4):c.1056C>T (p.C352=) - EDAR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1056C>T r.(?) p.(Cys352=) Unknown - benign g.109513654G>A g.108897198G>A EDAR(NM_022336.4):c.1056C>T (p.C352=) - EDAR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1060G>T r.(?) p.(Glu354Ter) Parent #1 - pathogenic g.109513650C>A g.108897194C>A - - EDAR_000037 - PubMed: van der Hout 2008 - - Germline - - - - - DNA SEQ - - HED Fam2 PubMed: van der Hout 2008 2-generation family, affected mother/son F;M - Netherlands - - - - - 2 Johan den Dunnen
+/. 9 c.1072C>T r.(?) p.(Arg358Ter) Parent #1 - pathogenic (dominant) g.109513638G>A g.108897182G>A - - EDAR_000036 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - HED Pat18 PubMed: Martínez-Romero 2019 - M - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1072C>T r.(?) p.(Arg358Ter) Parent #1 - pathogenic g.109513638G>A g.108897182G>A - - EDAR_000036 - PubMed: van der Hout 2008 - - Germline - - - - - DNA SEQ - - HED Fam3 PubMed: van der Hout 2008 2-generation family, affected mother/daughter F - Netherlands - - - - - 2 Johan den Dunnen
+/. 12 c.1072C>T r.(?) p.(Arg358Ter) Parent #1 - pathogenic g.109513638G>A g.108897182G>A - - EDAR_000036 - PubMed: van der Hout 2008 - - De novo - - - - - DNA SEQ - - HED Fam4 PubMed: van der Hout 2008 2-generation family, affected mother/daughter F - Netherlands - - - - - 2 Johan den Dunnen
+/. - c.1072C>T r.(?) p.(Arg358*) Unknown - pathogenic g.109513638G>A - EDAR(NM_022336.4):c.1072C>T (p.R358*) - EDAR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1073G>A r.(?) p.(Arg358Gln) Both (homozygous) - pathogenic (recessive) g.109513637C>T - - - EDAR_000035 - PubMed: Masui 2011 - - Germline - - - - - DNA SEQ - - HED patient PubMed: Masui 2011 - F - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1073G>A r.(?) p.(Arg358Gln) Parent #1 - pathogenic (dominant) g.109513637C>T g.108897181C>T - - EDAR_000035 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - HED Pat42 PubMed: Martínez-Romero 2019 - M - Spain - - - - - 1 Johan den Dunnen
?/. - c.1109T>C r.(?) p.(Val370Ala) Unknown - VUS g.109513601A>G g.108897145A>G - - EDAR_000034 - PubMed: Wohlfart 2016 - rs3827760 Germline - - - - - DNA SEQ - - ? - PubMed: Wohlfart 2016 - M - Turkey - - - - - 1 Johan den Dunnen
-/. - c.1109T>C r.(?) p.(Val370Ala) Unknown - benign g.109513601A>G - EDAR(NM_022336.4):c.1109T>C (p.V370A) - EDAR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1124G>A r.(?) p.(Arg375His) Parent #1 - pathogenic g.109513586C>T g.108897130C>T - - EDAR_000030 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908454 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1138A>C r.(?) p.(Ser380Arg) Unknown - VUS g.109513572T>G g.108897116T>G EDAR(NM_022336.3):c.1138A>C (p.S380R, p.(Ser380Arg)) - EDAR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1138A>C r.(?) p.(Ser380Arg) Unknown - benign g.109513572T>G g.108897116T>G EDAR(NM_022336.3):c.1138A>C (p.S380R, p.(Ser380Arg)) - EDAR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1138A>C r.(?) p.(Ser380Arg) Parent #1 - benign g.109513572T>G g.108897116T>G - - EDAR_000011 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146567337 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
+/. - c.1144G>A r.(?) p.(Gly382Ser) Parent #1 - pathogenic g.109513566C>T g.108897110C>T - - EDAR_000029 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs747806672 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1144G>A r.(?) p.(Gly382Ser) Unknown - pathogenic g.109513566C>T - EDAR(NM_022336.4):c.1144G>A (p.G382S) - EDAR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1145G>A r.(?) p.(Gly382Asp) Unknown - VUS g.109513565C>T - EDAR(NM_022336.4):c.1145G>A (p.(Gly382Asp)) - EDAR_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1146_1149del r.(?) p.(Leu383Argfs*8) Parent #1 - pathogenic (dominant) g.109513562_109513565del g.108897106_108897109del - - EDAR_000008 - PubMed: Wohlfart 2016 - - Germline - 2/124 cases - - - DNA SEQ - - ECTD10A - PubMed: Wohlfart 2016 - - no Germany - - - - - 1 Sigrun Maier-Wohlfart
+/. 12 c.1146_1149del r.(?) p.(Leu383Argfs*8) Parent #1 - pathogenic (dominant) g.109513562_109513565del g.108897106_108897109del - - EDAR_000008 - PubMed: Wohlfart 2016 - - Germline - 2/124 cases - - - DNA SEQ - - ECTD10A - PubMed: Wohlfart 2016 - - no Germany - - - - - 1 Sigrun Maier-Wohlfart
?/. - c.1165G>A r.(?) p.(Gly389Arg) Unknown - VUS g.109513545C>T - EDAR(NM_022336.4):c.1165G>A (p.(Gly389Arg)) - EDAR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1169del r.(?) p.(Gly390Alafs*2) Parent #1 - pathogenic g.109513545del g.108897089del - - EDAR_000007 - PubMed: Wohlfart 2016 - - Germline - 1/124 cases - - - DNA SEQ - - ECTD10A - PubMed: Wohlfart 2016 - - no Germany - - - - - 1 Sigrun Maier-Wohlfart
+/. 12 c.1187_1189dup r.(?) p.(Gln396dup) Parent #1 - pathogenic g.109513522_109513524dup g.108897066_108897068dup 1186_1188dup - EDAR_000006 - PubMed: Cluzeau 2011 - - Germline yes - - - - DNA SEQ - - ECTD10A - PubMed: Cluzeau 2011 - M yes Portugal - >06y - - - 1 Johan den Dunnen
+?/. - c.1190T>C r.(?) p.(Leu397Pro) Unknown - likely pathogenic g.109513520A>G - EDAR(NM_022336.4):c.1190T>C (p.L397P) - EDAR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1222A>T r.(?) p.(Ile408Phe) Parent #1 - likely pathogenic g.109513488T>A g.108897032T>A - - EDAR_000001 - PubMed: Cluzeau 2011 - - Germline - - - - - DNA SEQ - - ECTD10A - PubMed: Cluzeau 2011 - F no France - - - - - 1 Johan den Dunnen
+/. - c.1258C>T r.(?) p.(Arg420Trp) Both (homozygous) - pathogenic (recessive) g.109513452G>A g.108896996G>A g.92377C>T - EDAR_000023 - - - - Germline - - - - - DNA SEQ - - ECTD10B - - - M ? Germany - - - - - 1 Sigrun Maier-Wohlfart
+/. 12 c.1259G>A r.(?) p.(Arg420Gln) Parent #1 - pathogenic g.109513451C>T g.108896995C>T - - EDAR_000002 - PubMed: Cluzeau 2011 - - Germline - - - - - DNA SEQ - - ECTD10A - PubMed: Cluzeau 2011 PubMed: Cluzeau 2011 M no - Sefarad >17y - - - 1 Johan den Dunnen
+/. 12 c.1259G>A r.(?) p.(Arg420Gln) Parent #1 - pathogenic g.109513451C>T g.108896995C>T - - EDAR_000002 - PubMed: Cluzeau 2011 - - Germline - - - - - DNA SEQ - - ECTD10A - PubMed: Cluzeau 2011 - M yes Algeria - >34y - - - 1 Johan den Dunnen
+/. 12 c.1259G>A r.(?) p.(Arg420Gln) Parent #1 - pathogenic (dominant) g.109513451C>T g.108896995C>T - - EDAR_000002 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - HED Pat12 PubMed: Martínez-Romero 2019 - F - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1259G>A r.(?) p.(Arg420Gln) Parent #1 - pathogenic g.109513451C>T g.108896995C>T - - EDAR_000002 - PubMed: van der Hout 2008 - - Germline - - - - - DNA SEQ - - HED Fam5 PubMed: van der Hout 2008 2-generation family, affected mother/son F;M - Netherlands - - - - - 2 Johan den Dunnen
?/. - c.1268C>A r.(?) p.(Ala423Asp) Unknown - VUS g.109513442G>T - EDAR(NM_022336.4):c.1268C>A (p.A423D) - EDAR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1297G>T r.(?) p.(Glu433Ter) Unknown - VUS g.109513413C>A g.108896957C>A EDAR(NM_022336.4):c.1297G>T (p.E433*) - EDAR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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