Full data view for gene EDA

Information The variants shown are described using the NM_001399.4 transcript reference sequence.

296 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     
+?/. _1_1i c.(?_-181)_(396+1_397-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(?_68835972)_(68836549_69176876)del g.(?_69616128)_(69616705_69957026)del deletion exon 1 - EDA_000015 - PubMed: Kere 1996 PubMed: Paakkonen 2001 - - Germline - - - 0 - DNA PCR - - XHED - PubMed: Kere 1996 PubMed: Paakkonen 2001 - M - France French - 0 - - 1 Céline Cluzeau
+?/. _1_1i c.(?_-181)_(396+1_397-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(?_68835972)_(68836549_69176876)del g.(?_69616128)_(69616705_69957026)del deletion exon 1 - EDA_000015 - PubMed: Kere 1996 - - Germline - - - 0 - DNA PCR - - XHED FamED1015 PubMed: Kere 1996 - M - - - - 0 - - 1 Céline Cluzeau
+?/. _1_1i c.(?_-181)_(396+1_397-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(?_68835972)_(68836549_69176876)del g.(?_69616128)_(69616705_69957026)del deletion exon 1 - EDA_000015 - PubMed: Paakkonen 2001 - - Germline - - - 0 - DNA Southern - - XHED - PubMed: Paakkonen 2001 - ? - - - - 0 - - 1 Céline Cluzeau
+/. _1_1i c.(?_-181)_(396+1_397-1)del r.0? p.0? Unknown - pathogenic (dominant) g.(?_68835972)_(68836549_69176876)del g.(?_69616128)_(69616705_69957026)del exon 1 del - EDA_000015 gene exons described as 1a, 3a, 4-9 PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-A11 PubMed: Schneider 2011 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.-56G>T r.(?) p.(=) Maternal (confirmed) - pathogenic (recessive) g.68836097G>T g.69616253G>T 187G>T - EDA_000096 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED7 PubMed: Kere 1996 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. - c.-56G>T r.(?) p.(=) Maternal (confirmed) - likely benign g.68836097G>T g.69616253G>T 187G>T - EDA_000096 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED1013 PubMed: Ferguson 1998 - M - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.-16G>A r.(?) p.(=) Maternal (confirmed) - likely benign g.68836137G>A g.69616293G>A 227G>A - EDA_000097 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED1075 PubMed: Ferguson 1998 - M - United States - - 0 - - 1 Johan den Dunnen
+?/. 1 c.2T>G r.(?) p.(M1R) Maternal (confirmed) - likely pathogenic g.68836154T>G g.69616310T>G - - EDA_000016 - PubMed: Cluzeau 2011 - - Unknown - - - 0 - DNA SEQ - - XHED - PubMed: Cluzeau 2011 - F - Algeria - - 0 - - 1 Céline Cluzeau
+/. - c.4G>T r.(?) p.(Gly2Cys) Unknown - pathogenic (dominant) g.68836156G>T g.69616312G>T - - EDA_000098 - PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-A3 PubMed: Schneider 2011 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.44dup r.(?) p.(Ala16Serfs*84) Maternal (inferred) - pathogenic (recessive) g.68836196dup g.69616352dup 287insC - EDA_000093 - PubMed: Kere 1996 - - De novo - - - 0 - DNA SEQ - - ECTD FamED1166 PubMed: Kere 1996 family, mother not a carrier M - United States - - 0 - - 1 Johan den Dunnen
+/. - c.45_49del r.(?) p.(Pro17Glyfs*81) Unknown - pathogenic (dominant) g.68836197_68836201del g.69616353_69616357del - - EDA_000099 - PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-Ch11 PubMed: Schneider 2011 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.45_49del r.(?) p.(Pro17Glyfs*81) Unknown - pathogenic (dominant) g.68836197_68836201del g.69616353_69616357del - - EDA_000099 - PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-AS7 PubMed: Schneider 2011 - F - Germany - - 0 - - 1 Johan den Dunnen
+/. 1 c.64_71dup r.(?) p.(Cys25Alafs*35) Maternal (inferred) - pathogenic (dominant) g.68836216_68836223dup g.69616372_69616379dup 64_71dup8 - EDA_000037 - PubMed: Wohlfart 2016 - - Germline - 4/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - no Germany - - 0 - - 1 Sigrun Maier-Wohlfart
+/. 1 c.64_71dup r.(?) p.(Cys25Alafs*35) Maternal (inferred) - pathogenic (dominant) g.68836216_68836223dup g.69616372_69616379dup 64_71dup8 - EDA_000037 - PubMed: Wohlfart 2016 - - Germline - 4/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - no Germany - - 0 - - 1 Sigrun Maier-Wohlfart
+/. 1 c.64_71dup r.(?) p.(Cys25Alafs*35) Maternal (inferred) - pathogenic (dominant) g.68836216_68836223dup g.69616372_69616379dup 64_71dup8 - EDA_000037 - PubMed: Wohlfart 2016 - - Germline - 4/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - no Germany - - 0 - - 1 Sigrun Maier-Wohlfart
+/. 1 c.64_71dup r.(?) p.(Cys25Alafs*35) Maternal (inferred) - pathogenic (dominant) g.68836216_68836223dup g.69616372_69616379dup 64_71dup8 - EDA_000037 - PubMed: Wohlfart 2016 - - Germline - 4/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - no Germany - - 0 - - 1 Sigrun Maier-Wohlfart
+/. - c.67C>T r.(?) p.(Gln23*) Maternal (confirmed) - pathogenic (recessive) g.68836219C>T g.69616375C>T 366C>T - EDA_000100 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED1180 PubMed: Ferguson 1998 - M - United States - - 0 - - 1 Johan den Dunnen
+/. - c.78del r.(?) p.(Cys27Valfs*30) Unknown - pathogenic g.68836230del - EDA(NM_001399.5):c.78delG (p.C27Vfs*30) - EDA_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.93T>C r.(?) p.(Pro31=) Unknown - likely benign g.68836245T>C g.69616401T>C EDA(NM_001399.5):c.93T>C (p.P31=) - EDA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.119_120insTGTG r.(?) p.(Leu41Valfs*60) Maternal (confirmed) - pathogenic (dominant) g.68836271_68836272insTGTG g.69616427_69616428insTGTG - - EDA_000013 - PubMed: Gunadi 2009 - - Unknown - - - 0 - DNA SEQ - - XHED - PubMed: Gunadi 2009 - M - Japan Japanese - 0 - - 1 Céline Cluzeau
+/. - c.121dup r.(?) p.(Leu41Profs*59) Maternal (confirmed) - pathogenic (recessive) g.68836273dup g.69616429dup 363insC - EDA_000101 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED12 PubMed: Kere 1996 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. - c.170C>G r.(?) p.(Thr57Arg) Unknown - likely pathogenic g.68836322C>G g.69616478C>G EDA(NM_001399.5):c.170C>G (p.T57R) - EDA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.181T>C r.(?) p.(Tyr61His) Maternal (confirmed) - pathogenic (recessive) g.68836333T>C g.69616489T>C 423T>C - EDA_000102 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED19 PubMed: Kere 1996 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.183C>G r.(?) p.(Tyr61*) Maternal (confirmed) - pathogenic (recessive) g.68836335C>G g.69616491C>G - 425C>G EDA_000094 - PubMed: Yotsumoto 1998 - - Germline - - - 0 - DNA SEQ - - ECTD - PubMed: Yotsumoto 1998 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.185del r.(?) p.(Leu62Glnfs*29) Maternal (confirmed) - pathogenic (recessive) g.68836337del g.69616493del 427delT - EDA_000103 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED-D14 PubMed: Ferguson 1998 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.187G>A r.(?) p.(Glu63Lys) Maternal (confirmed) - pathogenic (recessive) g.68836339G>A g.69616495G>A 429G>A - EDA_000104 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED1129 PubMed: Ferguson 1998 - M - United States - - 0 - - 1 Johan den Dunnen
-/. - c.206G>T r.(?) p.(Arg69Leu) Unknown - benign g.68836358G>T g.69616514G>T EDA(NM_001005609.1):c.206G>T (p.(Arg69Leu)), EDA(NM_001399.4):c.206G>T (p.R69L), EDA(NM_001399.5):c.206G>T (p.R69L) - EDA_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.206G>T r.(?) p.(Arg69Leu) Unknown - likely benign g.68836358G>T g.69616514G>T EDA(NM_001005609.1):c.206G>T (p.(Arg69Leu)), EDA(NM_001399.4):c.206G>T (p.R69L), EDA(NM_001399.5):c.206G>T (p.R69L) - EDA_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.206G>T r.(?) p.(Arg69Leu) Unknown - likely benign g.68836358G>T g.69616514G>T EDA(NM_001005609.1):c.206G>T (p.(Arg69Leu)), EDA(NM_001399.4):c.206G>T (p.R69L), EDA(NM_001399.5):c.206G>T (p.R69L) - EDA_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.206G>T r.(?) p.(Arg69Leu) Unknown - likely benign g.68836358G>T g.69616514G>T EDA(NM_001005609.1):c.206G>T (p.(Arg69Leu)), EDA(NM_001399.4):c.206G>T (p.R69L), EDA(NM_001399.5):c.206G>T (p.R69L) - EDA_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.206G>T r.(?) p.(Arg69Leu) Maternal (confirmed) - pathogenic (recessive) g.68836358G>T g.69616514G>T 448G>T - EDA_000067 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED73 PubMed: Kere 1996 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.206G>T r.(?) p.(Arg69Leu) Maternal (confirmed) - pathogenic (recessive) g.68836358G>T g.69616514G>T 448G>T - EDA_000067 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED1113 PubMed: Kere 1996 - M - United States - - 0 - - 1 Johan den Dunnen
?/. - c.206G>T r.(?) p.(Arg69Leu) Parent #1 - VUS g.68836358G>T g.69616514G>T 206G>T/991C>T - EDA_000067 - PubMed: Burger 2014 - - Germline - - - 0 - DNA SEQ - - XHED ED6 PubMed: Burger 2014 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.206G>T r.(?) p.(Arg69Leu) Unknown - pathogenic (dominant) g.68836358G>T g.69616514G>T - - EDA_000067 - PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-ChS2 PubMed: Schneider 2011 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.242C>A r.(?) p.(Ser81Ter) Unknown - pathogenic g.68836394C>A g.69616550C>A EDA(NM_001399.5):c.242C>A (p.S81*) - EDA_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.252del r.(?) p.(Gly85Alafs*6) Maternal (inferred) - pathogenic (dominant) g.68836404del g.69616560del - - EDA_000043 - PubMed: Wohlfart 2016 - - Germline - 1/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - no Germany - - 0 - - 1 Sigrun Maier-Wohlfart
+/. - c.252del r.(?) p.(Gly85Alafs*6) Maternal (confirmed) - pathogenic (recessive) g.68836404del g.69616560del 494delT - EDA_000043 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED52 PubMed: Kere 1996 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.252del r.(?) p.(Gly85Alafs*6) Maternal (confirmed) - pathogenic (recessive) g.68836404del g.69616560del 494delT - EDA_000043 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED1024 PubMed: Kere 1996 - M - United States - - 0 - - 1 Johan den Dunnen
+/. - c.252del r.(?) p.(Gly85Alafs*6) Maternal (confirmed) - pathogenic (recessive) g.68836404del g.69616560del 494delT - EDA_000043 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED1108 PubMed: Ferguson 1998 - M - United States - - 0 - - 1 Johan den Dunnen
+/. - c.351_353delinsG r.(?) p.(Pro118Glyfs*8) Maternal (confirmed) - pathogenic (recessive) g.68836503_68836505delinsG g.69616659_69616661delinsG 593A>G;594-595delCC - EDA_000105 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED46 PubMed: Ferguson 1998 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 1 c.358G>T r.(?) p.(Glu120X) Unknown - likely pathogenic g.68836510G>T g.69616666G>T - - EDA_000017 - PubMed: Cluzeau 2011 - - Unknown - - - 0 - DNA SEQ - - XHED - PubMed: Cluzeau 2011 - F - France French - 0 - - 1 Céline Cluzeau
+?/. 1 c.361del r.(?) p.(Ala121Profs*16) Unknown - likely pathogenic g.68836513del g.69616669del - - EDA_000032 - PubMed: Cluzeau 2011 - - Unknown - - - 0 - DNA SEQ - - XHED - PubMed: Cluzeau 2011 - F - (France) French - 0 - - 1 Céline Cluzeau
+?/. - c.374C>G r.(?) p.(Ser125Cys) Unknown - likely pathogenic g.68836526C>G g.69616682C>G g.616C>G - EDA_000149 - - - - Germline - - - 0 - DNA ? - - XHED - - - M - - - - - - - 1 Sigrun Maier-Wohlfart
+/. 1 c.376_379del r.(?) p.(Asp126Profs*10) Maternal (inferred) - pathogenic (dominant) g.68836528_68836531del g.69616684_69616687del 376_379del4 - EDA_000040 - PubMed: Wohlfart 2016 - - Germline - 1/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - no Germany - - 0 - - 1 Sigrun Maier-Wohlfart
+/. - c.394C>T r.(?) p.(Gln132*) Maternal (confirmed) - pathogenic (recessive) g.68836546C>T g.69616702C>T 636C>T - EDA_000106 - PubMed: Kere 1996 - - Germline yes - - 0 - DNA SEQ - - ECTD FamED1013 PubMed: Kere 1996 - M - United States - - 0 - - 1 Johan den Dunnen
+/. 1i c.396+5G>A r.spl? p.? Maternal (inferred) - pathogenic (dominant) g.68836553G>A g.69616709G>A - - EDA_000050 - PubMed: Wohlfart 2016 - - Germline - 1/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - no Germany - - 0 - - 1 Sigrun Maier-Wohlfart
+?/. - c.396+5G>A r.spl? p.0? Maternal (confirmed) - likely pathogenic (dominant) g.68836553G>A g.69616709G>A - - EDA_000050 - PubMed: Prasad 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - disease gene panel ECTD V1.12 PubMed: Prasad 2016 - M - - - - 0 - - 1 Johan den Dunnen
-?/. 1i c.396+32900dup r.(=) p.(=) Maternal (confirmed) - likely benign g.68869448dup g.69649604dup 68869433insT - EDA_000059 - PubMed: Kumar 2016, Journal: Kumar 2016 - rs367558953 Germline - - - 0 - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - 0 - - 10 Thuong Ha
-?/. 1i c.396+36982del r.(?) p.(=) Maternal (confirmed) - likely benign g.68873530del g.69653686del 68873526_68873527delA - EDA_000060 - PubMed: Kumar 2016, Journal: Kumar 2016 - - Germline - - - 0 - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - 0 - - 10 Thuong Ha
-?/. 1i c.396+44701A>T r.(?) p.(=) Maternal (confirmed) - likely benign g.68881249A>T g.69661405A>T - - EDA_000061 - PubMed: Kumar 2016, Journal: Kumar 2016 - rs7471344 Germline - - - 0 - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - 0 - - 10 Thuong Ha
-?/. - c.396+53503_396+53508del r.(=) p.(=) Unknown - likely benign g.68890051_68890056del g.69670207_69670212del EDA(NM_001005613.2):c.397-3_399del (p.?) - EDA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.396+53504_396+53508del r.(=) p.(=) Unknown - VUS g.68890052_68890056del g.69670208_69670212del EDA(NM_001005609.1):c.396+53503_396+53507del (p.?) - EDA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.396+53508C>T r.(=) p.(=) Unknown - VUS g.68890056C>T g.69670212C>T EDA(NM_001005609.1):c.396+53508C>T (p.?) - EDA_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.397-78326_397-78325del r.(?) p.(=) Unknown - likely benign g.69098551_69098552del g.69878701_69878702del - - EDA_000056 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 1i c.397-78293_397-78292del r.(?) p.(=) Unknown - likely benign g.69098584_69098585del g.69878734_69878735del - - EDA_000057 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 1i c.397-78293_397-78292del r.(?) p.(=) Unknown - likely benign g.69098584_69098585del g.69878734_69878735del - - EDA_000057 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. 1i_2i c.397-6065_502+3117dup r.? p.? Parent #1 - pathogenic (dominant) g.69170812_69180099dup g.69950962_69960249dup duplication exon 2 - EDA_000054 - PubMed: Wohlfart 2016 - - Unknown - 1/124 cases - 0 - DNA MLPA, SEQ - - ? - PubMed: Wohlfart 2016 - - - - - - 0 - - 1 Sigrun Maier-Wohlfart
+/. 1i_2i c.397-5853_502+3446dup r.? p.? Parent #2 - pathogenic (dominant) g.69171024_69180428dup g.69951174_69960578dup duplication exon 2 - EDA_000036 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - 0 - DNA MLPA, SEQ - - ? - PubMed: Wohlfart 2016 - - - - - - 0 - - 1 Sigrun Maier-Wohlfart
+/. 1i_2i c.397-5853_502+3446dup r.? p.? Maternal (inferred) - pathogenic (dominant) g.69171024_69180428dup g.69951174_69960578dup duplication exon 2 - EDA_000036 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - no Germany - - 0 - - 1 Sigrun Maier-Wohlfart
+/. 1i_2i c.397-5853_502+3446dup r.? p.? Maternal (inferred) - pathogenic (dominant) g.69171024_69180428dup g.69951174_69960578dup duplication exon 2 - EDA_000036 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - no Germany - - 0 - - 1 Sigrun Maier-Wohlfart
+?/. 2 c.397-1G>A r.(?) p.(?) Unknown - likely pathogenic g.69176876G>A g.69957026G>A - - EDA_000030 - PubMed: Cluzeau 2011 - - Unknown - - - 0 - DNA SEQ - - XHED - PubMed: Cluzeau 2011 - M - (France) French - 0 - - 1 Céline Cluzeau
+/. 1i_2i c.(396+1_397-1)_(502+1_503-1)del r.? p.? Unknown - pathogenic (dominant) g.(68836549_69176876)_(69176983_69243067)del g.(69616705_69957026)_(69957133_70023217)del deletion exon 2, 397-?_502+?del - EDA_000055 - PubMed: Wohlfart 2016 - - Unknown - 1/124 cases - 0 - DNA SEQ - - ? - PubMed: Wohlfart 2016 - - - - - - 0 - - 1 Sigrun Maier-Wohlfart
+/. 1i_2i c.(396+1_397-1)_(502+1_503-1)del r.? p.? Unknown - pathogenic (dominant) g.(68836549_69176876)_(69176983_69243067)del g.(69616705_69957026)_(69957133_70023217)del exon 3 del - EDA_000055 gene exons described as 1a, 3a, 4-9 PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-A9 PubMed: Schneider 2011 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. 1i_2i c.(396+1_397-1)_(502+1_503-1)dup r.? p.? Unknown - pathogenic (dominant) g.(68836549_69176876)_(69176983_69243067)dup g.(69616705_69957026)_(69957133_70023217)dup - - EDA_000064 Testing revealed a partial duplication including exon 2. - - - Unknown - - - 0 - DNA SEQ - - ? - - This patient's phenotype currently includes oligodontia and potentially sparse hair that may be within the range of normal. The patient does not meet standards for HED at this time. F no United States Caucasian - 0 - - 1 Alizabeth Woodruff
+/. - c.449_456del r.(?) p.(Glu150Alafs*6) Unknown - pathogenic (dominant) g.69176929_69176936del g.69957079_69957086del - - EDA_000107 - PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-AS3 PubMed: Schneider 2011 - F - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.457C>T r.(?) p.(Arg153Cys) Unknown - pathogenic (dominant) g.69176937C>T g.69957087C>T - - EDA_000108 - PubMed: Wohlfart 2016 - - Germline - 2/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.457C>T r.(?) p.(Arg153Cys) Unknown - pathogenic (dominant) g.69176937C>T g.69957087C>T - - EDA_000108 - PubMed: Wohlfart 2016 - - Germline - 2/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.457C>T r.(?) p.(Arg153Cys) Unknown - pathogenic (dominant) g.69176937C>T g.69957087C>T - - EDA_000108 - PubMed: Burger 2014 - - Germline - - - 0 - DNA MLPA - - XHED ED20 PubMed: Burger 2014 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.457C>T r.spl p.(Arg153Cys) Unknown - pathogenic (dominant) g.69176937C>T g.69957087C>T - - EDA_000108 - PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-A1 PubMed: Schneider 2011 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.457C>T r.(?) p.(Arg153Cys) Unknown - pathogenic (dominant) g.69176937C>T g.69957087C>T - - EDA_000108 - PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-A4 PubMed: Schneider 2011 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.457C>T r.(?) p.(Arg153Cys) Unknown - pathogenic (dominant) g.69176937C>T g.69957087C>T - - EDA_000108 - PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-A5 PubMed: Schneider 2011 - M - Germany - - 0 - - 1 Johan den Dunnen
-?/. - c.458G>A r.(?) p.(Arg153His) Unknown - likely benign g.69176938G>A g.69957088G>A EDA(NM_001005609.1):c.458G>A (p.(Arg153His)) - EDA_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic g.69176943C>T g.69957093C>T EDA(NM_001399.5):c.463C>T (p.R155C) - EDA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic g.69176943C>T g.69957093C>T EDA(NM_001399.5):c.463C>T (p.R155C) - EDA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.463C>T r.(?) p.(Arg155Cys) Maternal (confirmed) - pathogenic (recessive) g.69176943C>T g.69957093C>T C704T - EDA_000069 - PubMed: Monreal 1998 - - Germline - - - 0 - DNA SEQ - - ECTD FamED1081 PubMed: Monreal 1998 - M - United States - - 0 - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic (dominant) g.69176943C>T g.69957093C>T - - EDA_000069 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic (dominant) g.69176943C>T g.69957093C>T - - EDA_000069 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic (dominant) g.69176943C>T g.69957093C>T - - EDA_000069 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic (dominant) g.69176943C>T g.69957093C>T - - EDA_000069 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic (dominant) g.69176943C>T g.69957093C>T - - EDA_000069 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic (dominant) g.69176943C>T g.69957093C>T - - EDA_000069 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic (dominant) g.69176943C>T g.69957093C>T - - EDA_000069 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic (dominant) g.69176943C>T g.69957093C>T - - EDA_000069 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Arg155Cys) Unknown - pathogenic (dominant) g.69176943C>T g.69957093C>T - - EDA_000069 - PubMed: Schneider 2011 - - Germline - - - 0 - DNA SEQ - - XHED ED-Ch6 PubMed: Schneider 2011 - M - Germany - - 0 - - 1 Johan den Dunnen
+?/. 2 c.466C>G r.(?) p.(Arg156Gly) Paternal (confirmed) - likely pathogenic g.69176946C>G g.69957096C>G - - EDA_000018 - PubMed: Cluzeau 2011 - - Unknown - - - 0 - DNA SEQ - - XHED - PubMed: Cluzeau 2011 - F - France French - 0 - - 1 Céline Cluzeau
+/. 2 c.466C>T r.(?) p.(Arg156Cys) Maternal (inferred) - pathogenic g.69176946C>T g.69957096C>T R156C - EDA_000002 - PubMed: Bayes 1998 - - Unknown - - - 0 - DNA SEQ - - ? - PubMed: Bayes 1998 - - - - - - 0 - - 1 Céline Cluzeau
+/. 2 c.466C>T r.(?) p.(Arg156Cys) Maternal (inferred) - pathogenic g.69176946C>T g.69957096C>T 707C>T (R156C) - EDA_000002 - PubMed: Monreal 1998; OMIM:var0006 - - De novo - - - 0 - DNA SEQ - - XHED - PubMed: Monreal 1998; OMIM:var0006 - - - - - - 0 - - 1 Céline Cluzeau
+/. 2 c.466C>T r.(?) p.(Arg156Cys) Maternal (confirmed) - pathogenic g.69176946C>T g.69957096C>T - - EDA_000002 frequent variant in HED, located in the furin cleavage site PubMed: Cluzeau 2011 - - Unknown - - - 0 - DNA SEQ - - XHED - PubMed: Cluzeau 2011 Familial case M - Martinique - - 0 - - 1 Céline Cluzeau
+/. - c.466C>T r.(?) p.(Arg156Cys) Maternal (inferred) - pathogenic (recessive) g.69176946C>T g.69957096C>T C707T - EDA_000002 - PubMed: Monreal 1998 - - De novo - - - 0 - DNA SEQ - - ECTD FamED1095 PubMed: Monreal 1998 - M - United States - - 0 - - 1 Johan den Dunnen
+/. - c.466C>T r.(?) p.(Arg156Cys) Unknown - pathogenic (dominant) g.69176946C>T g.69957096C>T - - EDA_000002 - PubMed: Wohlfart 2016 - - Germline - 1/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.466C>T r.(?) p.(Arg156Cys) Unknown - pathogenic (dominant) g.69176946C>T g.69957096C>T - - EDA_000002 - PubMed: Burger 2014 - - Germline - - - 0 - DNA SEQ - - XHED ED3 PubMed: Burger 2014 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.466C>T r.(?) p.(Arg156Cys) Unknown ACMG pathogenic g.69176946C>T - - - EDA_000002 ACMG grading: PS3,PM1,PM2,PM5,PP3 - - rs132630313 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+/. 2 c.467G>A r.(?) p.(Arg156His) Maternal (inferred) - pathogenic g.69176947G>A g.69957097G>A 708G>A (R156H) - EDA_000003 - PubMed: Monreal 1998; OMIM:var0005 - - Unknown - - - 0 - DNA SEQ - - XHED - PubMed: Monreal 1998; OMIM:var0005 - - - - - - 0 - - 1 Céline Cluzeau
+/. 2 c.467G>A r.(?) p.(Arg156His) Maternal (inferred) - pathogenic g.69176947G>A g.69957097G>A - - EDA_000003 located in the furin cleavage site PubMed: Cluzeau 2011 - - Unknown - - - 0 - DNA SEQ - - XHED - PubMed: Cluzeau 2011 Familial case, consanguineous M - Algeria - - 0 - - 1 Céline Cluzeau
+/. - c.467G>A r.(?) p.(Arg156His) Maternal (confirmed) - pathogenic (recessive) g.69176947G>A g.69957097G>A G708A - EDA_000003 - PubMed: Monreal 1998 - - Germline - - - 0 - DNA SEQ - - ECTD FamED1039 PubMed: Monreal 1998 - M - United States - - 0 - - 1 Johan den Dunnen
+/. - c.467G>A r.(?) p.(Arg156His) Unknown - pathogenic (dominant) g.69176947G>A g.69957097G>A - - EDA_000003 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.467G>A r.(?) p.(Arg156His) Unknown - pathogenic (dominant) g.69176947G>A g.69957097G>A - - EDA_000003 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.467G>A r.(?) p.(Arg156His) Unknown - pathogenic (dominant) g.69176947G>A g.69957097G>A - - EDA_000003 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.467G>A r.(?) p.(Arg156His) Unknown - pathogenic (dominant) g.69176947G>A g.69957097G>A - - EDA_000003 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.467G>A r.(?) p.(Arg156His) Unknown - pathogenic (dominant) g.69176947G>A g.69957097G>A - - EDA_000003 - PubMed: Wohlfart 2016 - - Germline - 8/124 cases - 0 - DNA SEQ - - XHED - PubMed: Wohlfart 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
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