Full data view for gene EFNB1

Information The variants shown are described using the NM_004429.4 transcript reference sequence.

114 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? _1_3i c.(?_-780)_499+?del r.0? p.0? Maternal (confirmed) - pathogenic g.(?_68048840)_(68059599_68059803)del - del ex1-3 - EFNB1_000000 no mosaicism PubMed: Twigg 2006 - - Germline yes - - - - DNA MLPA, Southern, SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 2 affected females F - - - - - - - 2 Johan den Dunnen
+/? _1_5_ c.(?_-780)_(*1510_?)del r.0? p.0? Paternal (confirmed) - pathogenic g.(?_68048840)_(68062007_?)del - del ex1-5 - EFNB1_000000 no mosaicism PubMed: Twigg 2006 - - Germline yes - - - - DNA MLPA, SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/? _1_5_ c.(?_-780)_(*1510_?)del r.0? p.0? Maternal (confirmed) - pathogenic g.(?_68048840)_(68062007_?)del - del ex1-5 - EFNB1_000000 no mosaicism PubMed: Twigg 2006 - - Germline yes - - - - DNA MLPA, Southern, SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.-695C>T r.(?) p.(=) Unknown - likely benign g.68048925C>T g.68829082C>T EFNB1(NM_004429.4):c.-695C>T - EFNB1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-616G>A r.(?) p.(=) Unknown - likely benign g.68049004G>A g.68829161G>A EFNB1(NM_004429.4):c.-616G>A - EFNB1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-279C>G r.(?) p.(=) Unknown - benign g.68049341C>G g.68829498C>G EFNB1(NM_004429.4):c.-279C>G - EFNB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-104_-95delinsTTGGGCGCCC r.-104_-95delinsuugggcgccc p.(=) Unknown - NA g.68049516_68049525delinsTTGGGCGCCC g.68829673_68829682delinsTTGGGCGCCC c.[-104A>T;-95T>C] - EFNB1_000046 luciferase assay shows raised protein translation (1.6) PubMed: Twigg 2013, Journal: Twigg 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-95T>C r.-95u>c p.(=) Unknown - likely pathogenic g.68049525T>C g.68829682T>C c.-95T>G - EFNB1_000044 mosaicism 0.19–0.54 in different tissues, absent in unaffected mother; variant in conserve uORF predicted to reduce protein translation PubMed: Twigg 2013, Journal: Twigg 2013 - - Somatic yes - - - - DNA, RNA DHPLC, MLPA, PCR, RT-PCR, SEQ-NG blood, buccal scrapings, hair roots - CFND;CFNS - PubMed: Twigg 2013, Journal: Twigg 2013 - F no - white - - - - 1 Jacqueline Goos
+/. 1 c.-95T>C r.-95u>c p.(=) Unknown - NA g.68049525T>C g.68829682T>C - - EFNB1_000044 luciferase assay shows reduced protein translation (0.45) PubMed: Twigg 2013, Journal: Twigg 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-95T>C r.(?) p.(=) Unknown - VUS g.68049525T>C g.68829682T>C EFNB1(NM_004429.4):c.-95T>C - EFNB1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-95_-91delinsGGATA r.-95_-91delinsggaua p.(=) Unknown - NA g.68049525_68049529delinsGGATA g.68829682_68829686delinsGGATA - - EFNB1_000045 luciferase assay shows normal protein translation (0.9) PubMed: Twigg 2013, Journal: Twigg 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.-4_4del r.(?) p.0? Unknown - pathogenic g.68049616_68049623del g.68829773_68829780del - - EFNB1_000021 no mosaicism PubMed: Twigg 2006 - - Unknown yes - BslI+ - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/? 1 c.1A>G r.(?) p.(Met1?) Unknown - NA g.68049620A>G g.68829777A>G - - EFNB1_000076 - - - - Somatic yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics - F no - white - - - - 1 Jacqueline Goos
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.68049620A>G g.68829777A>G EFNB1(NM_004429.4):c.1A>G (p.M1?) - EFNB1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.30C>T r.spl? p.(Lys11Serfs*2) Unknown - pathogenic g.68049649C>T g.68829806C>T c.30C>T - EFNB1_000013 no mosaicism PubMed: Twigg 2006 - - Unknown yes - - - - DNA DHPLC, PCR, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Twigg 2006 - F no - white - - - - 1 Jacqueline Goos
+/. - c.30C>T r.(?) p.(Gly10=) Unknown - pathogenic g.68049649C>T g.68829806C>T EFNB1(NM_004429.4):c.30C>T (p.G10=) - EFNB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.97del r.(?) p.(Glu33SerfsTer13) Unknown - pathogenic g.68049716del g.68829873del EFNB1(NM_004429.4):c.97delG (p.E33Sfs*13) - EFNB1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106T>G r.(?) p.(Ser36Ala) Unknown - VUS g.68049725T>G g.68829882T>G EFNB1(NM_004429.4):c.106T>G (p.S36A) - EFNB1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.109T>G r.(?) p.(Trp37Gly) Unknown - pathogenic g.68049728T>G g.68829885T>G - - EFNB1_000008 no mosaicism PubMed: Twigg 2006 - - Unknown yes - - - - DNA DHPLC, PCR, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics; PubMed: Kapusta 1992, PubMed: Twigg 2006 - F no - white - - - - 1 Jacqueline Goos
+/? 1 c.109T>G r.(?) p.(Trp37Gly) Unknown - pathogenic g.68049728T>G g.68829885T>G - - EFNB1_000008 - PubMed: Twigg 2006 - - Unknown yes - - - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 2 affected females F - - - - - - - 2 Johan den Dunnen
+/? 1 c.110G>A r.(?) p.(Trp37*) Unknown - pathogenic g.68049729G>A g.68829886G>A - - EFNB1_000022 mosaicism postzygotic male fetus PubMed: Twigg 2006 - - Unknown yes - BslI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 2 affecteds (F, M) - - - - - - - - 2 Johan den Dunnen
+/? 1 c.123C>G r.(?) p.(Asn41Lys) Maternal (confirmed) - pathogenic g.68049742C>G g.68829899C>G - - EFNB1_000023 no mosaicism PubMed: Twigg 2006 - - Germline yes - SmlI+ - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.128+3_128+6del r.spl? p.? Unknown - likely benign g.68049750_68049753del g.68829907_68829910del - - EFNB1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1i_5_ c.129-?_*1510+?del r.? p.0? Unknown - pathogenic g.(68049748_68058459)_(68087012_68197356)del - ex2-5 deletion - EFNB1_000042 29-148kb deletion, distal breakpoint between RH65456 and DXS981; ex2del not in 100 control chromosomes PubMed: Wieland 2004, OMIM:var0001 - - Germline yes - - - - DNA PCR, Southern - - CFND;CFNS - PubMed: Wieland 2004 3-generation family, 3 affected females, 2 carrier males (1 not, 1 mildly affected) - no - white - - - - 5 Johan den Dunnen
+/? 2 c.151_153del r.(?) p.(Val51del) Unknown - pathogenic g.68058482_68058484del g.68838639_68838641del 151_153delGTG - EFNB1_000024 - PubMed: Twigg 2006 - - Unknown yes - HphI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 5 affecteds (4F, M) - - - - - - - - 5 Johan den Dunnen
+/? 2 c.161C>T r.(?) p.(Pro54Leu) Unknown - pathogenic g.68058492C>T g.68838649C>T - - EFNB1_000003 - - - - De novo yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics; - F no - white - - - - 1 Jacqueline Goos
+/? 2 c.161C>T r.(?) p.(Pro54Leu) Unknown - pathogenic g.68058492C>T g.68838649C>T - - EFNB1_000003 mosaicism postzygotic female fetus PubMed: Twigg 2006 - - Unknown yes - BslI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 2 affecteds (F, M) - - - - - - - - 2 Johan den Dunnen
+?/? 2 c.161C>T r.(?) p.(Pro54Leu) Unknown - likely pathogenic g.68058492C>T g.68838649C>T 862C>T - EFNB1_000003 not in 150 control chromosomes PubMed: Wieland 2004, OMIM:var0003 - - Germline yes - - - - DNA PCR, SEQ, Southern - - CFND;CFNS - PubMed: Wieland 2004 3-generation family, affected mother/daugther, carrier grandfather - no - - - - - - 3 Johan den Dunnen
+/. - c.161C>T r.(?) p.(Pro54Leu) Unknown - pathogenic g.68058492C>T g.68838649C>T EFNB1(NM_004429.4):c.161C>T (p.P54L) - EFNB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.170_171delinsTT r.(?) p.(Gly57Val) Unknown - pathogenic g.68058501_68058502delinsTT g.68838658_68838659delinsTT 170_171GA>TT - EFNB1_000025 no mosaicism PubMed: Twigg 2006 - - Unknown yes - BslI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/? 2 c.191G>A r.(?) p.(Cys64Tyr) Unknown - pathogenic g.68058522G>A g.68838679G>A - - EFNB1_000026 mosaicism postzygotic female fetus PubMed: Twigg 2006 - - Unknown yes - - - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 2 affected females F - - - - - - - 2 Johan den Dunnen
+/? 2 c.196C>T r.(?) p.(Arg66*) Unknown - pathogenic g.68058527C>T g.68838684C>T - - EFNB1_000027 no mosaicism PubMed: Twigg 2006 - - Unknown yes - AvaI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/? 2 c.196C>T r.(?) p.(Arg66*) Unknown - pathogenic g.68058527C>T g.68838684C>T - - EFNB1_000027 no mosaicism PubMed: Twigg 2006 - - Unknown yes - AvaI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/? 2 c.196C>T r.(?) p.(Arg66*) Paternal (confirmed) - pathogenic g.68058527C>T g.68838684C>T - - EFNB1_000027 no mosaicism PubMed: Twigg 2006 - - Germline yes - AvaI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/. - c.196C>T r.(?) p.(Arg66Ter) Unknown - pathogenic g.68058527C>T g.68838684C>T EFNB1(NM_004429.5):c.196C>T (p.(Arg66*), p.R66*) - EFNB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196C>T r.(?) p.(Arg66Ter) Unknown - pathogenic g.68058527C>T - EFNB1(NM_004429.5):c.196C>T (p.(Arg66*), p.R66*) - EFNB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.196del r.(?) p.(Arg66Glufs*93) Paternal (confirmed) - pathogenic g.68058527del g.68838684del - - EFNB1_000020 - - - - Germline yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics - F no - white - - - - 1 Jacqueline Goos
+/? 2 c.196del r.(?) p.(Arg66Glufs*93) Unknown - pathogenic g.68058527del g.68838684del - - EFNB1_000020 mosaicism postzygotic female fetus PubMed: Twigg 2006 - - Unknown yes - - - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 2 affecteds (F, M) - - - - - - - - 2 Johan den Dunnen
+/? 2 c.220G>T r.(?) p.(Glu74*) Unknown - pathogenic g.68058551G>T g.68838708G>T - - EFNB1_000029 no mosaicism PubMed: Twigg 2006 - - Unknown yes - - - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/? 2 c.228C>G r.(?) p.(Tyr76*) Unknown - pathogenic g.68058559C>G g.68838716C>G - - EFNB1_000004 - - - - Unknown yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics; - F no - white - - - - 1 Jacqueline Goos
+/. - c.228C>G r.(?) p.(Tyr76Ter) Unknown - pathogenic g.68058559C>G g.68838716C>G EFNB1(NM_004429.4):c.228C>G (p.Y76*) - EFNB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.233T>C r.(?) p.(Leu78Pro) Unknown - pathogenic g.68058564T>C g.68838721T>C c.233T>C - EFNB1_000005 no mosaicism PubMed: Twigg 2006 - - Unknown yes - BceAI+ - - DNA DHPLC, PCR, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Twigg 2006 family, 3 affected females F no - South-american - - - - 3 Jacqueline Goos
+/? 2 c.233T>C r.(?) p.(Leu78Pro) Maternal (confirmed) - pathogenic g.68058564T>C g.68838721T>C c.233T>C - EFNB1_000005 - PubMed: Twigg 2006 - - Germline yes - - - - DNA DHPLC, PCR, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics; - F - - South-American - - - - 1 Jacqueline Goos
+/? 2 c.265T>C r.(?) p.(Cys89Arg) Unknown - pathogenic g.68058596T>C g.68838753T>C - - EFNB1_000030 no mosaicism PubMed: Twigg 2006 - - Unknown yes - SfcI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/? 2 c.266G>A r.(?) p.(Cys89Tyr) Unknown - pathogenic g.68058597G>A g.68838754G>A - - EFNB1_000006 - - - - Unknown yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics; - F no - white - - - - 1 Jacqueline Goos
+/? 2 c.266G>A r.(?) p.(Cys89Tyr) Unknown - pathogenic g.68058597G>A g.68838754G>A - - EFNB1_000006 no mosaicism PubMed: Twigg 2006 - - Unknown yes - - - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/. - c.266G>A r.(?) p.(Cys89Tyr) Unknown - pathogenic g.68058597G>A g.68838754G>A EFNB1(NM_004429.4):c.266G>A (p.C89Y) - EFNB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.272_280delinsGACCAAC r.(?) p.(Thr91ArgfsTer12) Unknown - pathogenic g.68058603_68058611delinsGACCAAC g.68838760_68838768delinsGACCAAC EFNB1(NM_004429.4):c.272_280delCAGTTCTCGinsGACCAAC (p.T91Rfs*12) - EFNB1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.313G>T r.(?) p.(Glu105*) Unknown - pathogenic g.68058644G>T g.68838801G>T - - EFNB1_000064 - - - - De novo - - - - - DNA SEQ-NG-I - - CRS - - - - - - - - - - - 1 Anshuman Sewda
+/? 2 c.324dup r.(?) p.(Arg109Thrfs*23) Unknown - pathogenic g.68058655dup g.68838812dup - - EFNB1_000015 - - - - Unknown yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics; - F no - white - - - - 1 Jacqueline Goos
+/. - c.324dup r.(?) p.(Arg109ThrfsTer23) Unknown - pathogenic g.68058655dup g.68838812dup EFNB1(NM_004429.4):c.324dupA (p.R109Tfs*23) - EFNB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.332C>A r.(?) p.(Thr111Asn) Unknown - pathogenic g.68058663C>A g.68838820C>A EFNB1(NM_004429.4):c.332C>A (p.T111N) - EFNB1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 2 c.332C>T r.(?) p.(Thr111Ile) Unknown - likely pathogenic g.68058663C>T g.68838820C>T 1023C>T (Thr111Ile) - EFNB1_000043 not in 150 contol chromosomes PubMed: Wieland 2004, OMIM:var0002 - - Germline yes - - - - DNA PCR, SEQ, Southern - - CFND;CFNS - PubMed: Wieland 2004 5-generation family, 5 affected females, 3 carrier males - no - - - - - - 8 Johan den Dunnen
+/? 2 c.339G>C r.(?) p.(Lys113Asn) Unknown - pathogenic g.68058670G>C g.68838827G>C c.339G>C - EFNB1_000009 no mosaicism PubMed: Twigg 2006 - - Unknown yes - - - - DNA DHPLC, PCR, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Kapusta 1992, PubMed: Twigg 2006 - F no - white - - - - 1 Jacqueline Goos
+?/. - c.352A>C r.(?) p.(Ser118Arg) Unknown - likely pathogenic g.68058683A>C g.68838840A>C - - EFNB1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.355C>G r.(?) p.(Pro119Ala) Unknown - pathogenic g.68058686C>G g.68838843C>G - - EFNB1_000031 - PubMed: Twigg 2006 - - Unknown yes - HhaI+ - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 4 affecteds (3F, M) - - - - - - - - 4 Johan den Dunnen
+/? 2 c.360C>A r.(?) p.(Asn120Lys) Unknown - pathogenic g.68058691C>A g.68838848C>A - - EFNB1_000016 - - - - De novo yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics; - F no - white - - - - 1 Jacqueline Goos
+/. - c.360C>A r.(?) p.(Asn120Lys) Unknown - pathogenic g.68058691C>A g.68838848C>A EFNB1(NM_004429.4):c.360C>A (p.N120K) - EFNB1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.360C>G r.(?) p.(Asn120Lys) Unknown - pathogenic g.68058691C>G g.68838848C>G EFNB1(NM_004429.4):c.360C>G (p.N120K) - EFNB1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.363C>A r.(?) p.(Tyr121*) Paternal (confirmed) - pathogenic g.68058694C>A g.68838851C>A - - EFNB1_000032 no mosaicism PubMed: Twigg 2006 - - Germline yes - NlaIII- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/? 2 c.368G>A r.(?) p.(Gly123Asp) Unknown - pathogenic g.68058699G>A g.68838856G>A - - EFNB1_000014 - - - - Unknown yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Kapusta 1992 - F no - white - - - - 1 Jacqueline Goos
+/? 2 c.368G>A r.(?) p.(Gly123Asp) Unknown - pathogenic g.68058699G>A g.68838856G>A - - EFNB1_000014 no mosaicism (maternal) PubMed: Twigg 2006 - - Unknown yes - AvaII+ - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 2 affecteds (F, M) - - - - - - - - 2 Johan den Dunnen
+/? 2 c.398del r.(?) p.(Tyr133Serfs*26) Unknown - pathogenic g.68058729del g.68838886del - - EFNB1_000033 no mosaicism PubMed: Twigg 2006 - - Unknown yes - - - - DNA ASO, SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/. - c.406+3G>T r.spl? p.? Unknown - pathogenic g.68058740G>T g.68838897G>T EFNB1(NM_004429.4):c.406+3G>T - EFNB1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_5_ c.406+375_*7006del r.? p.? Maternal (inferred) - pathogenic g.68059112_68067503del g.68839269_68847660del del exon 3-5 - EFNB1_000047 low level mosaic deletion (0.17 cells) PubMed: Twigg 2013, Journal: Twigg 2013 - - Somatic yes - - - - DNA DHPLC, MLPA, PCR, SEQ - - CFND;CFNS - PubMed: Kwee 1983, PubMed: Twigg 2013, Journal: Twigg 2013 - M no Netherlands white - - - - 1 Jacqueline Goos
+/. - c.407-15G>A r.(=) p.(=) Unknown - pathogenic g.68059492G>A g.68839649G>A EFNB1(NM_004429.4):c.407-15G>A - EFNB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2i c.407-1G>A r.spl? p.? Unknown - pathogenic g.68059506G>A g.68839663G>A - - EFNB1_000041 mosaicism postzygotic female fetus PubMed: Twigg 2006 - - Unknown yes - PstI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/? 3 c.407C>T r.(?) p.(Ser136Leu) Unknown - pathogenic g.68059507C>T g.68839664C>T - - EFNB1_000012 no mosaicism PubMed: Twigg 2006 - - De novo yes - TseI- - - DNA DHPLC, PCR, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Twigg 2006 - F no - white - - - - 1 Jacqueline Goos
?/? 3 c.422G>C r.(?) p.(Ser141Thr) Unknown - VUS g.68059522G>C g.68839679G>C - - EFNB1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 families - - - DNA SEQ - - MRX;IDX 19377111-Pat? PubMed: Tarpey 2009 only summary data are given - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.422G>C r.(?) p.(Ser141Thr) Unknown - likely benign g.68059522G>C - EFNB1(NM_004429.4):c.422G>C (p.(Ser141Thr)) - EFNB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.432del r.(?) p.(Leu145Trpfs*14) Unknown - pathogenic g.68059532del g.68839689del - - EFNB1_000034 no mosaicism PubMed: Twigg 2006 - - Unknown yes - BglI+ - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 2 affecteds (F, M) - - - - - - - - 2 Johan den Dunnen
+/? 3 c.445G>T r.(?) p.(Glu149*) Unknown - pathogenic g.68059545G>T g.68839702G>T - - EFNB1_000035 no mosaicism PubMed: Twigg 2006 - - Unknown yes - NciI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+/? 3 c.451G>A r.(?) p.(Gly151Ser) Unknown - pathogenic g.68059551G>A g.68839708G>A - - EFNB1_000017 - - - - De novo yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics - F no - white - - - - 1 Jacqueline Goos
+/? 3 c.451G>A r.(?) p.(Gly151Ser) Unknown - pathogenic g.68059551G>A g.68839708G>A - - EFNB1_000017 - PubMed: Twigg 2006 - - Unknown yes - AciI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 5 affecteds (4F, M) - - - - - - - - 5 Johan den Dunnen
+/. - c.451G>A r.(?) p.(Gly151Ser) Unknown - pathogenic g.68059551G>A g.68839708G>A EFNB1(NM_004429.4):c.451G>A (p.G151S) - EFNB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.452G>A r.(?) p.(Gly151Asp) Unknown - pathogenic g.68059552G>A g.68839709G>A - - EFNB1_000036 no mosaicism PubMed: Twigg 2006 - - Unknown yes - AciI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+?/. 3 c.452G>A r.(?) p.(Gly151Asp) Unknown - likely pathogenic g.68059552G>A g.68839709G>A - - EFNB1_000036 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline - - - - - DNA SEQ - - CFND;CFNS - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - - - - 1 Karen E. Heath
+/? 3 c.458G>C r.(?) p.(Cys153Ser) Paternal (confirmed) - pathogenic g.68059558G>C g.68839715G>C - - EFNB1_000037 no mosaicism PubMed: Twigg 2006 - - Germline yes - MwoI- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.485T>G r.(?) p.(Met162Arg) Unknown - likely pathogenic g.68059585T>G - - - EFNB1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3_3i c.492_499+2del r.spl p.? Unknown - pathogenic g.68059592_68059601del g.68839749_68839758del - - EFNB1_000019 - - - - Unknown yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics - F - - white - - - - 1 Jacqueline Goos
+/. - c.492_499+2del r.spl? p.? Unknown - pathogenic g.68059592_68059601del g.68839749_68839758del EFNB1(NM_004429.4):c.492_499+2delTGGGCAAGGT - EFNB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.496C>T r.(?) p.(Gln166*) Maternal (inferred) - NA g.68059596C>T g.68839753C>T 496C>T (mosaic) - EFNB1_000010 - PubMed: Twigg 2006 - - Somatic yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human GeneticsPubMed: Kapusta 1992, PubMed: Twigg 2006 - M no - white - - - - 1 Jacqueline Goos
+/? 3 c.496C>T r.(?) p.(Gln166*) Maternal (confirmed) - pathogenic g.68059596C>T g.68839753C>T c.496C>T - EFNB1_000010 no mosaicism (maternal) PubMed: Twigg 2006 - - Germline yes - - - - DNA DHPLC, PCR, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Kapusta 1992, PubMed: Twigg 2006 family, 3 affecteds (2F, M) F no - white - - - - 3 Jacqueline Goos
+/? 3 c.496C>T r.(?) p.(Gln166*) Unknown - pathogenic g.68059596C>T g.68839753C>T - - EFNB1_000010 - PubMed: Twigg 2006 - - Germline yes - - - - DNA DHPLC, PCR, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human GeneticsPubMed: Kapusta 1992, PubMed: Twigg 2006 - F no - white - - - - 1 Jacqueline Goos
+/? 3 c.496C>T r.(?) p.(Gln166*) Unknown - pathogenic g.68059596C>T g.68839753C>T - - EFNB1_000010 - PubMed: Twigg 2006 - - Germline yes - - - - DNA DHPLC, PCR, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human GeneticsPubMed: Kapusta 1992, PubMed: Twigg 2006 - F - - white - - - - 1 Jacqueline Goos
+/? 3i c.500-2A>G r.spl p.? Unknown - pathogenic g.68059801A>G g.68839958A>G - - EFNB1_000028 no mosaicism PubMed: Twigg 2006 - - Unknown yes - BamHI+ - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 4 affected females F - - - - - - - 4 Johan den Dunnen
-/. - c.509C>T r.(?) p.(Ala170Val) Unknown - benign g.68059812C>T g.68839969C>T EFNB1(NM_004429.4):c.509C>T (p.A170V) - EFNB1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540G>T r.(?) p.(Arg180Ser) Unknown - likely benign g.68059843G>T g.68840000G>T EFNB1(NM_004429.4):c.540G>T (p.R180S, p.(Arg180Ser)) - EFNB1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540G>T r.(?) p.(Arg180Ser) Unknown - likely benign g.68059843G>T g.68840000G>T EFNB1(NM_004429.4):c.540G>T (p.R180S, p.(Arg180Ser)) - EFNB1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.543del r.(?) p.(Ser182Alafs*31) Unknown - pathogenic g.68059846del g.68840003del - - EFNB1_000018 - - - - Unknown yes - - - - DNA MLPA, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics - F no - white - - - - 1 Jacqueline Goos
+/. - c.543del r.(?) p.(Ser182AlafsTer31) Unknown - pathogenic g.68059846del g.68840003del EFNB1(NM_004429.4):c.543delC (p.S182Afs*31) - EFNB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.564dup r.(?) p.(Val189Cysfs*10) Paternal (confirmed) - VUS g.68059867dup g.68840024dup 564_565insT - EFNB1_000011 no mosaicism PubMed: Twigg 2006 - - Unknown yes - DrdI- - - DNA DHPLC, PCR, SEQ - - CFND;CFNS - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Twigg 2006 - F no - white - - - - 1 Jacqueline Goos
+/? 4 c.587del r.(?) p.(Pro196Leufs*17) Unknown - pathogenic g.68059890del g.68840047del - - EFNB1_000038 no mosaicism PubMed: Twigg 2006 - - Unknown yes - XcmI+ - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.602C>A r.(?) p.(Ser201Tyr) Unknown - likely benign g.68059905C>A g.68840062C>A EFNB1(NM_004429.4):c.602C>A (p.(Ser201Tyr)) - EFNB1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.635_636del r.(?) p.(Val212Glufs*19) Unknown - pathogenic g.68060091_68060092del g.68840248_68840249del 635_636delTG - EFNB1_000039 no mosaicism PubMed: Twigg 2006 - - Unknown yes - Hpy8I- - - DNA SEQ - - CFND;CFNS - PubMed: Twigg 2006 family, 2 affected females F - - - - - - - 2 Johan den Dunnen
+/. - c.635_636del r.(?) p.(Val212GlufsTer19) Unknown - pathogenic g.68060091_68060092del g.68840248_68840249del EFNB1(NM_004429.4):c.635_636delTG (p.V212Efs*19) - EFNB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685G>T r.(?) p.(Asp229Tyr) Unknown - likely benign g.68060141G>T - EFNB1(NM_004429.5):c.685G>T (p.(Asp229Tyr)) - EFNB1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.797G>A r.(?) p.(Arg266His) Unknown - VUS g.68060253G>A - EFNB1(NM_004429.4):c.797G>A (p.(Arg266His)) - EFNB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.802C>T r.(?) p.(Arg268Trp) Unknown - VUS g.68060258C>T - EFNB1(NM_004429.4):c.802C>T (p.(Arg268Trp)) - EFNB1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.803G>A r.(?) p.(Arg268Gln) Unknown - VUS g.68060259G>A - EFNB1(NM_004429.4):c.803G>A (p.(Arg268Gln)) - EFNB1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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