Full data view for gene EVC

Information The variants shown are described using the NM_153717.2 transcript reference sequence.

255 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.-3062_-3058dup r.(?) p.(=) Unknown - pathogenic g.5710046_5710050dup - EVC2(NM_147127.4):c.194_198dupGGCGG (p.S67Gfs*17) - EVC2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3043C>G r.(?) p.(=) Unknown - likely benign g.5710065C>G - EVC2(NM_147127.4):c.176G>C (p.(Gly59Ala)) - EVC_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2989G>T r.(?) p.(=) Unknown - likely benign g.5710119G>T g.5708392G>T EVC2(NM_147127.4):c.122C>A (p.P41H, p.(Pro41His)), EVC2(NM_147127.5):c.122C>A (p.P41H) - EVC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2989G>T r.(?) p.(=) Unknown - likely benign g.5710119G>T g.5708392G>T EVC2(NM_147127.4):c.122C>A (p.P41H, p.(Pro41His)), EVC2(NM_147127.5):c.122C>A (p.P41H) - EVC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2989G>T r.(?) p.(=) Unknown - likely benign g.5710119G>T - EVC2(NM_147127.4):c.122C>A (p.P41H, p.(Pro41His)), EVC2(NM_147127.5):c.122C>A (p.P41H) - EVC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2983C>T r.(?) p.(=) Unknown - pathogenic g.5710125C>T - - - EVC_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2959A>G r.(?) p.(=) Unknown - likely benign g.5710149A>G - EVC2(NM_001166136.1):c.-13+407T>C (p.(=)) - EVC_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2929A>G r.(?) p.(=) Unknown - likely benign g.5710179A>G g.5708452A>G EVC2(NM_147127.4):c.62T>C (p.V21A) - EVC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2919G>A r.(?) p.(=) Unknown - benign g.5710189G>A g.5708462G>A EVC2(NM_147127.5):c.52C>T (p.L18F) - EVC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2853C>T r.(?) p.(=) Unknown - benign g.5710255C>T g.5708528C>T EVC2(NM_147127.5):c.-15G>A - EVC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9i_21_ c.(1315+1_1316-1)_*3267{0} r.? p.? Parent #1 - pathogenic (recessive) g.(5754780_5755511)_(5816031_?)del g.(5753053_5753784)_(5814304_?)del ex10_21del - EVC_000096 - PubMed: Tompson 2007 - - Germline - - - - - DNA SEQ - - EVC 12705 PubMed: Tompson 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 11i_21_ c.(1563+1_1564-1)_*3267{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(5758090_5785278)_(5816031_?)del g.(5756363_5783551)_(5814304_?)del del ex12-21 - EVC_000079 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - Germline - - - - - DNA SEQ - - EVC FanEVC015Pat16218 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 2-generation family, 1 affected, unaffected heterozygous parents/sister F - - - - - - - 1 Johan den Dunnen
+/. _1_11i c.-184_1563+7728{0} r.([NM_018401.1:r.-64_260]::1564_*3267) p.? Maternal (confirmed) - pathogenic (recessive) g.5174225_5765817del g.5172498_5764090del - - EVC_000094 STK32B-EVC fusion gene and deletion C4orf6 and EVC2 PubMed: Temtamy 2008 - - Germline - - - - - DNA SEQ - - EVC - PubMed: Temtamy 2008 - - no Italy - - - - - 1 Johan den Dunnen
+/. _1_11i c.-184_1564-4573{0} r.([NM_018401.1:r.-64_260]::1564_*3267) p.? Both (homozygous) - pathogenic (recessive) g.5173174_5780706del g.5171447_5778979del - - EVC_000093 STK32B-EVC fusion gene and deletion C4orf6 and EVC2 PubMed: Temtamy 2008 - - Germline - - - - - DNA SEQ - - EVC Fam1 PubMed: Temtamy 2008 4-generation family, 3 affected sibs (F, 2M) F;M yes Egypt - - - - - 3 Johan den Dunnen
+/. 1 c.2T>A r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.5713109T>A g.5711382T>A - - EVC_000104 - PubMed: Valencia 2009 - - Germline - - - - - DNA SEQ - - EVC Pat29 PubMed: Valencia 2009 - - yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.8G>C r.(?) p.(Arg3Pro) Unknown - likely benign g.5713115G>C - EVC(NM_153717.3):c.8G>C (p.R3P) - EVC_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.15_16ins(46) r.? p.? Parent #2 - pathogenic (recessive) g.5713122_5713123insN[46] - 15_16ins46bp - EVC_000087 ins46 not specified PubMed: Rudnik-Schöneborn 2011, Journal: Rudnik-Schöneborn 2011 - - Germline - - - - - DNA SEQ - - EVC Pat2 PubMed: Rudnik-Schöneborn 2011, Journal: Rudnik-Schöneborn 2011 2-generation family, 1 affected, unaffacted parents M - Sri Lanka - - - - - 1 Johan den Dunnen
-?/. - c.89C>T r.(?) p.(Pro30Leu) Unknown - likely benign g.5713196C>T g.5711469C>T EVC(NM_153717.2):c.89C>T (p.(Pro30Leu)), EVC(NM_153717.3):c.89C>T (p.P30L) - EVC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89C>T r.(?) p.(Pro30Leu) Unknown - VUS g.5713196C>T g.5711469C>T EVC(NM_153717.2):c.89C>T (p.(Pro30Leu)), EVC(NM_153717.3):c.89C>T (p.P30L) - EVC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.101dup r.(?) p.(Ala36Argfs*37) Both (homozygous) - likely pathogenic (recessive) g.5713208dup g.5711481dup NM_153717.2:c.101dup:p.(Ala36Argfs*37) - EVC_000027 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 16DG0331 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
-?/. - c.105C>A r.(?) p.(Gly35=) Unknown - likely benign g.5713212C>A - EVC(NM_153717.2):c.105C>A (p.G35=) - EVC_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.174+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.5713282G>A g.5711555G>A IVSI + 1G > A - EVC_000105 - PubMed: Tompson 2007 - - Germline - - - - - DNA SEQ - - EVC 39596 PubMed: Tompson 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 1i c.175-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.5720973A>G g.5719246A>G - - EVC_000106 - PubMed: Valencia 2009 - - Germline - - - - - DNA SEQ - - EVC Pat30 PubMed: Valencia 2009 - - yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.186_187del r.(?) p.(Gln63Lysfs*9) Parent #1 - pathogenic (recessive) g.5720986_5720987del g.5719259_5719260del 185_186delCT - EVC_000107 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat11 PubMed: D'Asdia 2013 - M no Italy - - - - - 1 Johan den Dunnen
+/. 2 c.203del r.(?) p.(Asn68Ilefs*48) Parent #1 - pathogenic (recessive) g.5721003del g.5719276del 203delA - EVC_000108 - PubMed: Valencia 2009 - - Germline - - - - - DNA SEQ - - EVC Pat8 PubMed: Valencia 2009 - - no Spain - - - - - 1 Johan den Dunnen
-/. - c.221A>C r.(?) p.(Gln74Pro) Unknown - benign g.5721021A>C - - - EVC_000080 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.230C>T r.(?) p.(Ser77Leu) Unknown - likely benign g.5721030C>T g.5719303C>T EVC(NM_001306090.1):c.230C>T (p.(Ser77Leu)) - EVC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.255G>A r.(?) p.(=) Unknown - VUS g.5721055G>A - - - EVC_000160 - PubMed: Monroe 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat12 PubMed: Monroe 2016 - M - Netherlands - - - - - 1 Johan den Dunnen
-/. - c.284A>G r.(?) p.(Asp95Gly) Unknown - benign g.5721084A>G g.5719357A>G EVC(NM_001306090.1):c.284A>G (p.(Asp95Gly)), EVC(NM_153717.2):c.284A>G (p.D95G), EVC(NM_153717.3):c.284A>G (p.D95G) - EVC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.284A>G r.(?) p.(Asp95Gly) Unknown - benign g.5721084A>G g.5719357A>G EVC(NM_001306090.1):c.284A>G (p.(Asp95Gly)), EVC(NM_153717.2):c.284A>G (p.D95G), EVC(NM_153717.3):c.284A>G (p.D95G) - EVC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.284A>G r.(?) p.(Asp95Gly) Unknown - likely benign g.5721084A>G - EVC(NM_001306090.1):c.284A>G (p.(Asp95Gly)), EVC(NM_153717.2):c.284A>G (p.D95G), EVC(NM_153717.3):c.284A>G (p.D95G) - EVC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_ c.(300+1_301-1)_(1563+1_1564-1)del r.? p.? Parent #1 - pathogenic (recessive) g.(5721101_5731033)_(5758090_5785278)del g.(5719374_5729306)_(5756363_5783551)del 301-?_1563+?del, hg18 5782048_5804013del - EVC_000097 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat18 PubMed: D'Asdia 2013 fetus M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.341C>T r.(?) p.(Ala114Val) Unknown - likely benign g.5731074C>T g.5729347C>T EVC(NM_153717.2):c.341C>T (p.(Ala114Val)) - EVC_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.341C>T r.(?) p.(Ala114Val) Parent #1 - benign g.5731074C>T g.5729347C>T - - EVC_000038 126 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16837598 Germline - 126/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 126 Mohammed Faruq
-/. - c.341C>T r.(?) p.(Ala114Val) Both (homozygous) - benign g.5731074C>T g.5729347C>T - - EVC_000038 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16837598 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. 3 c.363C>A r.(?) p.(Tyr121*) Parent #1 - pathogenic (recessive) g.5731096C>A g.5729369C>A - - EVC_000109 - PubMed: Valencia 2009 - - Germline - - - - - DNA SEQ - - EVC Pat21 PubMed: Valencia 2009 - - no Mexico - - - - - 1 Johan den Dunnen
+/. 3 c.363C>A r.(?) p.(Tyr121*) Unknown - pathogenic (recessive) g.5731096C>A - NM_153717.2:c.363C>A - EVC_000109 variant 2nd chromosome not mentioned; Variant published before in Valencia 2009 with p.E560X PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R11-131A PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
+?/. 3 c.364C>T r.(?) p.(Pro122Ser) Both (homozygous) - likely pathogenic g.5731097C>T g.5729370C>T g.18174C>T - EVC_000001 - - - - Germline - - - - - DNA SEQ-NG - - EVC - - - ? ? Brazil - - - - - 1 Karina Silveira
+/. - c.364C>T r.(?) p.(Pro122Ser) Both (homozygous) - pathogenic (recessive) g.5731097C>T g.5729370C>T - - EVC_000001 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat14 PubMed: D'Asdia 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Slovakia (Slovak Republic) - - - - - 1 Johan den Dunnen
+/. 3i c.384+5_384+6delinsAC r.spl p.? Both (homozygous) - pathogenic (recessive) g.5731122_5731123delinsAC g.5729395_5729396delinsAC 384 + 5_6GA>AC - EVC_000110 - PubMed: Tompson 2007 - - Germline - - - - - DNA SEQ - - EVC 34829 PubMed: Tompson 2007 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.435G>A r.(?) p.(Gln145=) Unknown - likely benign g.5733202G>A - EVC(NM_153717.2):c.435G>A (p.Q145=) - EVC_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.439G>C r.(?) p.(Val147Leu) Unknown - VUS g.5733206G>C g.5731479G>C EVC(NM_153717.2):c.439G>C (p.(Val147Leu)) - EVC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469C>G r.(?) p.(Pro157Ala) Unknown - likely benign g.5733236C>G g.5731509C>G EVC(NM_001306090.1):c.469C>G (p.(Pro157Ala)), EVC(NM_153717.2):c.469C>G (p.P157A) - EVC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469C>G r.(?) p.(Pro157Ala) Unknown - likely benign g.5733236C>G g.5731509C>G EVC(NM_001306090.1):c.469C>G (p.(Pro157Ala)), EVC(NM_153717.2):c.469C>G (p.P157A) - EVC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.473C>G r.(?) p.(Ser158Cys) Unknown - likely benign g.5733240C>G g.5731513C>G EVC(NM_153717.2):c.473C>G (p.(Ser158Cys)) - EVC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.511G>A r.(?) p.(Asp171Asn) Unknown - likely benign g.5733278G>A - EVC(NM_153717.2):c.511G>A (p.(Asp171Asn)) - EVC_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.516C>G r.(?) p.(Cys172Trp) Unknown - VUS g.5733283C>G g.5731556C>G EVC(NM_153717.2):c.516C>G (p.C172W) - EVC_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.550G>A r.(?) p.(Asp184Asn) Unknown - likely benign g.5733317G>A g.5731590G>A EVC(NM_001306090.1):c.550G>A (p.(Asp184Asn)), EVC(NM_153717.2):c.550G>A (p.D184N), EVC(NM_153717.3):c.550G>A (p.D184N) - EVC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.550G>A r.(?) p.(Asp184Asn) Unknown - likely benign g.5733317G>A g.5731590G>A EVC(NM_001306090.1):c.550G>A (p.(Asp184Asn)), EVC(NM_153717.2):c.550G>A (p.D184N), EVC(NM_153717.3):c.550G>A (p.D184N) - EVC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.550G>A r.(?) p.(Asp184Asn) Unknown - likely benign g.5733317G>A g.5731590G>A EVC(NM_001306090.1):c.550G>A (p.(Asp184Asn)), EVC(NM_153717.2):c.550G>A (p.D184N), EVC(NM_153717.3):c.550G>A (p.D184N) - EVC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.550G>A r.(?) p.(Asp184Asn) Unknown - likely benign g.5733317G>A - EVC(NM_001306090.1):c.550G>A (p.(Asp184Asn)), EVC(NM_153717.2):c.550G>A (p.D184N), EVC(NM_153717.3):c.550G>A (p.D184N) - EVC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569G>T r.(?) p.(Arg190Leu) Unknown - VUS g.5733336G>T - EVC(NM_153717.2):c.569G>T (p.R190L) - EVC_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.617G>A r.(?) p.(Ser206Asn) Parent #2 - pathogenic (recessive) g.5733384G>A g.5731657G>A - - EVC_000099 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat8 PubMed: D'Asdia 2013 fetus M no Australia - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Ser206Asn) Both (homozygous) - pathogenic (recessive) g.5733384G>A - - - EVC_000099 - PubMed: Umm-e-Kalsoom 2009 - - Germline yes - - - - DNA SEQ - - EVC family PubMed: Umm-e-Kalsoom 2009 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.618-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.5735076A>G g.5733349A>G - - EVC_000111 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat2 PubMed: D'Asdia 2013 - M yes Portugal - - - - - 1 Johan den Dunnen
+/. - c.618-1G>A r.spl? p.? Unknown - pathogenic g.5735077G>A g.5733350G>A EVC(NM_153717.3):c.618-1G>A - EVC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.618-1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.5735077G>T g.5733350G>T - - EVC_000112 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat5 PubMed: D'Asdia 2013 - F yes Iraq - - - - - 1 Johan den Dunnen
+/. - c.635del r.(?) p.(Cys212Leufs*7) Parent #1 - pathogenic (recessive) g.5735095del g.5733368del 635delG - EVC_000113 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat20 PubMed: D'Asdia 2013 - - no Ireland - - - - - 1 Johan den Dunnen
+/. 5i c.703-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.5743442G>C g.5741715G>C IVS5-1G > C - EVC_000114 - PubMed: Tompson 2007 - - Germline - - - - - DNA SEQ - - EVC 42597 PubMed: Tompson 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.708dup r.(?) p.(Ile237Tyrfs*5) Both (homozygous) - pathogenic (recessive) g.5743448dup g.5741721dup 708dupT - EVC_000115 - PubMed: Valencia 2009 - - Germline - - - - - DNA SEQ - - EVC Pat12 PubMed: Valencia 2009 - - yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.735del r.(?) p.(Asp246Thrfs*27) Parent #2 - pathogenic (recessive) g.5743474del - 734delT - EVC_000072 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - Germline - - - - - DNA SEQ - - EVC Pat16086 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 parents not available - - - - - - - - 1 Johan den Dunnen
+/. - c.752dup r.(?) p.(Lys252Glufs*4) Parent #1 - pathogenic (recessive) g.5743492dup g.5741765dup - - EVC_000116 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat7 PubMed: D'Asdia 2013 fetus - no Australia - - - - - 1 Johan den Dunnen
-/. - c.769C>T r.(?) p.(Leu257=) Unknown - benign g.5743509C>T g.5741782C>T EVC(NM_153717.3):c.769C>T (p.L257=) - EVC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.769C>T r.(?) p.(Leu257=) Unknown - benign g.5743509C>T g.5741782C>T EVC(NM_153717.3):c.769C>T (p.L257=) - EVC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.770T>A r.(?) p.(Leu257Gln) Both (homozygous) - pathogenic (!) g.5743510T>A g.5741783T>A 770T>A (L257X) - EVC_000092 variant reported DNA/protein conflicting PubMed: Sund 2009 - - Germline - - - - - DNA SEQ - - EVC Pat10-3 PubMed: Sund 2009 - M - United States white, Hispanic - - - - 1 Johan den Dunnen
-/. - c.772T>C r.(?) p.(Tyr258His) Unknown - benign g.5743512T>C g.5741785T>C EVC(NM_153717.3):c.772T>C (p.Y258H) - EVC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.772T>C r.(?) p.(Tyr258His) Unknown - benign g.5743512T>C g.5741785T>C EVC(NM_153717.3):c.772T>C (p.Y258H) - EVC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.772T>C r.(?) p.(Tyr258His) Unknown - benign g.5743512T>C - - - EVC_000007 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.801del r.(?) p.(Asp268Ilefs*5) Paternal (confirmed) ACMG pathogenic (recessive) g.5743541del g.5741814del - - EVC_000028 - Journal: Da Silva 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG-I Peripheral blood - EVC Pat1 Journal: Da Silva 2023 - M no Portugal white >06y - yes surgery for polydactyly 2 Jorge Diogo Da Silva
+/. - c.801+1G>T r.spl p.? Parent #1 - pathogenic (recessive) g.5743542G>T g.5741815G>T - - EVC_000117 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat6 PubMed: D'Asdia 2013 - M no Romania - - - - - 1 Johan den Dunnen
-/. - c.802-15C>T r.(=) p.(=) Unknown - benign g.5746916C>T g.5745189C>T - - EVC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.802-12_802-11del r.(=) p.(=) Unknown - benign g.5746919_5746920del g.5745192_5745193del EVC(NM_153717.3):c.802-12_802-11delCT - EVC_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.829C>T r.(?) p.(Gln277*) Parent #1 - pathogenic (recessive) g.5746958C>T g.5745231C>T - - EVC_000118 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat13 PubMed: D'Asdia 2013 - M no Italy - - - - - 1 Johan den Dunnen
?/. - c.835_837del r.(?) p.(Lys279del) Unknown - VUS g.5746964_5746966del - EVC(NM_153717.2):c.835_837del (p.(Lys279del)) - EVC_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.873dup r.(?) p.(Glu292Ter) Unknown - pathogenic g.5747002dup g.5745275dup EVC(NM_153717.2):c.873dupT (p.E292*) - EVC_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.873dup r.(?) p.(Glu292Ter) Unknown - pathogenic g.5747002dup - EVC(NM_153717.2):c.873dupT (p.E292*) - EVC_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.873dup r.(?) p.(Glu292*) Both (homozygous) - pathogenic (recessive) g.5747002dup g.5745275dup 873insT - EVC_000067 - PubMed: Tompson 2007 - - Germline - - - - - DNA SEQ - - EVC 31765 PubMed: Tompson 2007 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.873dup r.(?) p.(Glu292*) Both (homozygous) - pathogenic (recessive) g.5747002dup g.5745275dup 873insT - EVC_000067 - PubMed: Tompson 2007 - - Germline - - - - - DNA SEQ - - EVC 31773 PubMed: Tompson 2007 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.873dup r.(?) p.(Glu292*) Parent #1 - pathogenic (recessive) g.5747002dup g.5745275dup 873dupT - EVC_000067 - PubMed: Valencia 2009 - - Germline - - - - - DNA SEQ - - EVC Pat18 PubMed: Valencia 2009 - - no Spain - - - - - 1 Johan den Dunnen
+/. 7 c.873dup r.(?) p.(Glu292*) Maternal (confirmed) ACMG pathogenic (recessive) g.5747002dup g.5745275dup - - EVC_000067 - Journal: Da Silva 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG-I Peripheral blood - EVC Pat1 Journal: Da Silva 2023 - M no Portugal white >06y - yes surgery for polydactyly 2 Jorge Diogo Da Silva
?/. - c.899A>C r.(?) p.(Glu300Ala) Unknown - VUS g.5747028A>C - EVC(NM_153717.2):c.899A>C (p.(Glu300Ala)) - EVC_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.904_906del r.(?) p.(Lys302del) Both (homozygous) - pathogenic (recessive) g.5747033_5747035del - 904_906delAAG - EVC_000076 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - Germline - - - - - DNA SEQ - - EVC PatNCL16 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.904_906del r.(?) p.(Lys302del) Both (homozygous) - pathogenic (recessive) g.5747033_5747035del g.5745306_5745308del 904_906delAAG - EVC_000076 - PubMed: Tompson 2007 - - Germline - - - - - DNA SEQ - - EVC 19242 PubMed: Tompson 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.904_906del r.(?) p.(Lys302del) Both (homozygous) - pathogenic (recessive) g.5747033_5747035del g.5745306_5745308del 904_906delAAG - EVC_000076 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat19 PubMed: D'Asdia 2013 - M yes Algeria - - - - - 1 Johan den Dunnen
+/. 7 c.904_906del r.(?) p.(Lys302del) Both (homozygous) - pathogenic (recessive) g.5747033_5747035del g.5745306_5745308del - - EVC_000076 - PubMed: Valencia 2009 - - Germline - - - - - DNA SEQ - - EVC Pat5 PubMed: Valencia 2009 - - yes Spain - - - - - 1 Johan den Dunnen
+/. 7 c.904_906del r.(?) p.(Lys302del) Unknown - pathogenic (recessive) g.5747033_5747035del - NM_153717.2:c.904_906del - EVC_000076 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R06-546 PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
+/. 7 c.904_906del r.(?) p.(Lys302del) Unknown - pathogenic (recessive) g.5747033_5747035del - NM_153717.2:c.904_906del - EVC_000076 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R95-337 PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
?/. - c.904_906del r.(?) p.(Lys302del) Unknown - VUS g.5747033_5747035del - EVC(NM_153717.2):c.904_906delAAG (p.K302del) - EVC_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.910dup r.(?) p.(Arg304Lysfs*5) Both (homozygous) - pathogenic (recessive) g.5747039_5747040insA - 910-911insA - EVC_000077 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - Germline - - - - - DNA SEQ - - EVC PatNCL14 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.910dup r.(?) p.(Arg304Lysfs*5) Both (homozygous) - pathogenic (recessive) g.5747039dup g.5745312dup 910insA - EVC_000077 - PubMed: Tompson 2007 - - Germline - - - - - DNA SEQ - - EVC 13524 PubMed: Tompson 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.919T>C r.(?) p.(Ser307Pro) Maternal (confirmed) - pathogenic (recessive) g.5747048T>C - - - EVC_000073 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - Germline - - - - - DNA SEQ - - EVC Pat15219 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 2-generation family, 1 affected, unaffected heterozygous parents (father Weyers acrodental dysostosis) - - - - - - - - 1 Johan den Dunnen
+/. 7 c.919T>C r.(?) p.(Ser307Pro) Parent #1 - pathogenic (recessive) g.5747048T>C g.5745321T>C 919C>T (Ser307Pro) - EVC_000073 - PubMed: Tompson 2007 - - Germline - - - - - DNA SEQ - - EVC 33566 PubMed: Tompson 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.919T>C r.(?) p.(Ser307Pro) Both (homozygous) - pathogenic (recessive) g.5747048T>C g.5745321T>C 919C>T (Ser307Pro) - EVC_000073 - PubMed: Tompson 2007 - - Germline - - - - - DNA SEQ - - EVC 29726 PubMed: Tompson 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.919T>C r.(?) p.(Ser307Pro) Parent #2 - pathogenic (recessive) g.5747048T>C g.5745321T>C - - EVC_000073 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat6 PubMed: D'Asdia 2013 - M no Romania - - - - - 1 Johan den Dunnen
+/. - c.919T>C r.(?) p.(Ser307Pro) Parent #2 - pathogenic (recessive) g.5747048T>C g.5745321T>C - - EVC_000073 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat11 PubMed: D'Asdia 2013 - M no Italy - - - - - 1 Johan den Dunnen
+/. - c.928C>G r.(?) p.(Leu310Val) Parent #2 - pathogenic (recessive) g.5747057C>G g.5745330C>G - - EVC_000119 - PubMed: D'Asdia 2013 - - Germline - - - - - DNA SEQ - - EVC Pat18 PubMed: D'Asdia 2013 fetus M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.934G>A r.(?) p.(Asp312Asn) Unknown - likely benign g.5747063G>A g.5745336G>A EVC(NM_153717.2):c.934G>A (p.D312N, p.(Asp312Asn)), EVC(NM_153717.3):c.934G>A (p.D312N) - EVC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.934G>A r.(?) p.(Asp312Asn) Unknown - likely benign g.5747063G>A - EVC(NM_153717.2):c.934G>A (p.D312N, p.(Asp312Asn)), EVC(NM_153717.3):c.934G>A (p.D312N) - EVC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.934G>A r.(?) p.(Asp312Asn) Unknown - benign g.5747063G>A - EVC(NM_153717.2):c.934G>A (p.D312N, p.(Asp312Asn)), EVC(NM_153717.3):c.934G>A (p.D312N) - EVC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.939+4C>T r.spl? p.? Unknown - benign g.5747072C>T g.5745345C>T EVC(NM_153717.3):c.939+4C>T - EVC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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