Unique variants in the DHCR7 gene

Information The variants shown are described using the NM_001360.2 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     

Owner     
-?/. 1 - c.-5222C>A r.(?) p.(=) - - likely benign g.71164426G>T g.71453380G>T NADSYN1(NM_018161.4):c.84G>T (p.(Lys28Asn)) - DHCR7_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 1 1i_2i c.-1065_-7+171del r.(?) p.(?) - - likely pathogenic g.71158485_71160269del g.71447439_71449223del NG_012655.2:g.4209_5993del - DHCR7_000246 deletaion of exon 1 and 2 - - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 2i_6 c.-6-1198_537del r.(?) p.(?) - - likely pathogenic g.71152363_71157203del g.71441317_71446157del NG_012655.2:g.7276_12116del - DHCR7_000245 deletion of exon 3, 4, 5 and parts of exon 6 - - - Germline - - - - - Division of Human Genetics, Innsbruck
?/? 1 2i c.-6-126del r.(=) p.(=) - - VUS g.71156130del g.71445084del - - DHCR7_000187 - - - - Unknown - - - - - Division of Human Genetics, Innsbruck
?/? 1 2i_4i c.-5_321+1del r.spl? p.? - - VUS g.71155042_71156007del g.71443996_71444961del - - DHCR7_000241 - PubMed: Weaver et al. 2010 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 3 3 c.1A>G r.(?) p.(Met1?) B - likely pathogenic g.71155998T>C g.71444952T>C - - DHCR7_000156 - PubMed: Witsch-Baumgartner et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+, +/. 6 3 c.3G>A r.(?) p.(Met1?) - - pathogenic g.71155996C>T g.71444950C>T DHCR7(NM_001360.2):c.3G>A (p.M1?) - DHCR7_000189 VKGL data sharing initiative Nederland PubMed: Waterham et al. 2000 - - CLASSIFICATION record, Unknown - - - - - Division of Human Genetics, Innsbruck, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.25A>T r.(?) p.(Ile9Phe) - - likely benign g.71155974T>A - DHCR7(NM_001360.2):c.25A>T (p.I9F) - DHCR7_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.70G>T r.(?) p.(Ala24Ser) - - likely benign g.71155929C>A - DHCR7(NM_001360.2):c.70G>T (p.A24S) - DHCR7_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 2 3 c.89G>C r.(?) p.(Gly30Ala) - - likely pathogenic g.71155910C>G g.71444864C>G - - DHCR7_000177 - PubMed: Blahakova et al. 2007 - - Unknown - - - - - Division of Human Genetics, Innsbruck
?/. 1 - c.91C>T r.(?) p.(Arg31Cys) - - VUS g.71155908G>A - DHCR7(NM_001360.2):c.91C>T (p.R31C) - DHCR7_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 3i c.98+2_98+6del r.spl? p.? - - likely pathogenic g.71155897_71155901del g.71444851_71444855del - - DHCR7_000114 - no - - Unknown - - - - - Division of Human Genetics, Innsbruck
-?/. 1 - c.99-5C>T r.spl? p.? - - likely benign g.71155266G>A - DHCR7(NM_001360.2):c.99-5C>T - DHCR7_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+?, -/., -?/., ?/. 5 3i c.99-4G>A r.(=), r.spl? p.(=), p.? - - benign, likely benign, likely pathogenic, VUS g.71155265C>T g.71444219C>T DHCR7(NM_001163817.1):c.99-4G>A (p.?), DHCR7(NM_001360.2):c.99-4G>A - DHCR7_000185 VKGL data sharing initiative Nederland PubMed: Almomani 2011 - - CLASSIFICATION record, Germline, Unknown - - - - - Gerard C.P. Schaafsma, Division of Human Genetics, Innsbruck, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+ 2 4 c.111G>A r.(?) p.(Trp37*) - - pathogenic g.71155249C>T g.71444203C>T - - DHCR7_000190 - PubMed: Yu et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
-?/. 1 - c.122C>T r.(?) p.(Ala41Val) - - likely benign g.71155238G>A - DHCR7(NM_001360.2):c.122C>T (p.A41V) - DHCR7_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.126C>T r.(?) p.(Ser42=) - - benign, likely benign g.71155234G>A g.71444188G>A DHCR7(NM_001360.2):c.126C>T (p.S42=) - DHCR7_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/? 1 4 c.149C>A r.(?) p.(Ala50Asp) B - VUS g.71155211G>T g.71444165G>T - - DHCR7_000091 - PubMed: Witsch-Baumgartner et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
?/. 1 - c.149C>T r.(?) p.(Ala50Val) - - VUS g.71155211G>A g.71444165G>A DHCR7(NM_001360.2):c.149C>T (p.(Ala50Val)) - DHCR7_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 5 4 c.151C>T r.(?) p.(Pro51Ser) - - likely pathogenic g.71155209G>A g.71444163G>A - - DHCR7_000028 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 4 c.152C>A r.(?) p.(Pro51His) - - likely pathogenic g.71155208G>T g.71444162G>T - - DHCR7_000191 - PubMed: Anstey et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
?/. 2 - c.160G>A r.(?) p.(Val54Ile) - - VUS g.71155200C>T g.71444154C>T DHCR7(NM_001360.2):c.160G>A (p.V54I) - DHCR7_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.166T>A r.(?) p.(Tyr56Asn) - - VUS g.71155194A>T g.71444148A>T DHCR7(NM_001163817.1):c.166T>A (p.(Tyr56Asn)) - DHCR7_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 1 4 c.172A>G r.(?) p.(Ile58Val) - - likely pathogenic g.71155188T>C g.71444142T>C - - DHCR7_000149 - no - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+ 1 4 c.176T>G r.(?) p.(Met59Arg) K - pathogenic g.71155184A>C g.71444138A>C - - DHCR7_000112 - PubMed: Waterham et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+, +/. 2 4 c.185A>T r.(?) p.(Asp62Val) - - pathogenic g.71155175T>A g.71444129T>A - - DHCR7_000119 - PubMed: Waterham et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck, IMGAG
-/. 2 - c.189G>A r.(?) p.(Gln63=) - - benign g.71155171C>T g.71444125C>T DHCR7(NM_001360.2):c.189G>A (p.Q63=) - DHCR7_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/., ?/. 2 - c.199G>A r.(?) p.(Ala67Thr) - - likely benign, VUS g.71155161C>T g.71444115C>T DHCR7(NM_001360.2):c.199G>A (p.A67T) - DHCR7_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+?/+? 3 4 c.203T>C r.(?) p.(Leu68Pro) - - likely pathogenic g.71155157A>G g.71444111A>G - - DHCR7_000151 - PubMed: Ciara et al. 2004 - - Unknown - - - - - Division of Human Genetics, Innsbruck
-/. 2 - c.207T>C r.(?) p.(Thr69=) - - benign g.71155153A>G g.71444107A>G DHCR7(NM_001360.2):c.207T>C (p.T69=) - DHCR7_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/? 1 4 c.208G>A r.(?) p.(Gly70Ser) - - VUS g.71155152C>T g.71444106C>T - - DHCR7_000236 - PubMed: Alkuraya et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/. 1 - c.226G>A r.(?) p.(Val76Ile) - - likely pathogenic (recessive) g.71155134C>T g.71444088C>T - - DHCR7_000280 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - - - Johan den Dunnen
+/+, +/. 96 4 c.278C>T r.(?) p.(Thr93Met) A, C, F, J, K, P - pathogenic g.71155082G>A g.71444036G>A DHCR7(NM_001360.2):c.278C>T (p.T93M), NM_001163817: c.C278T; p.T93M - DHCR7_000012 VKGL data sharing initiative Nederland PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008, PubMed: Karaca 2015 - rs80338853 CLASSIFICATION record, Germline, Unknown - SP1/528,GR1/400 - - - Johan den Dunnen, Division of Human Genetics, Innsbruck, VKGL-NL_Groningen
+/+, +/. 3 4 c.292C>T r.(?) p.(Gln98*), p.(Gln98Ter) J - pathogenic g.71155068G>A g.71444022G>A DHCR7(NM_001360.2):c.292C>T (p.Q98*) - DHCR7_000153 VKGL data sharing initiative Nederland PubMed: Correa-Cerro et al. 2005 - - CLASSIFICATION record, Unknown - - - - - Division of Human Genetics, Innsbruck, VKGL-NL_Groningen
+/+ 5 4 c.296T>C r.(?) p.(Leu99Pro) D - pathogenic g.71155064A>G g.71444018A>G - - DHCR7_000001 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+ 2 4 c.321G>C r.(?) p.(Gln107His) - - pathogenic g.71155039C>G g.71443993C>G - - DHCR7_000146 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
-?/-? 2 4i c.321+8G>C r.(=) p.(=) - - likely benign g.71155031C>G g.71443985C>G - - DHCR7_000214 - PubMed: Waye et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
-?/. 2 - c.321+10C>T r.(=) p.(=) - - likely benign g.71155029G>A g.71443983G>A DHCR7(NM_001360.2):c.321+10C>T - DHCR7_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+, +/? 8 5 c.326T>C r.(?) p.(Leu109Pro) - - pathogenic g.71153395A>G g.71442349A>G - - DHCR7_000089 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck, István Balogh
+/+ 1 5 c.338C>G r.(?) p.(Ser113Cys) - - pathogenic g.71153383G>C g.71442337G>C - - DHCR7_000192 - PubMed: Waye et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/. 1 - c.355del r.(?) p.(His119IlefsTer8) - - pathogenic g.71153367del - DHCR7(NM_001360.2):c.355delC (p.H119Ifs*8) - DHCR7_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/., ?/. 2 - c.356A>G r.(?) p.(His119Arg) - - likely pathogenic (recessive), VUS g.71153365T>C g.71442319T>C DHCR7(NM_001360.2):c.356A>G (p.H119R) - DHCR7_000277 VKGL data sharing initiative Nederland PubMed: Grozeva 2015, Journal: Grozeva 2015 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/+ 3 5 c.356A>T r.(?) p.(His119Leu) - - pathogenic g.71153365T>A g.71442319T>A - - DHCR7_000035 - PubMed: Waterham et al. 1998 - rs28938174 Unknown - - - - - Division of Human Genetics, Innsbruck
?/? 1 5 c.374A>G r.(?) p.(Tyr125Cys) - - VUS g.71153347T>C g.71442301T>C - - DHCR7_000228 - PubMed: Balogh et al. 2012 - - Unknown - - - - - István Balogh
+/+ 1 5_5i c.384_412+6del r.spl p.? - - pathogenic g.71153303_71153337del g.71442257_71442291del - - DHCR7_000180 - PubMed: De Brasi et al. 1999 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+, +?/+?, ?/. 7 5_5i c.385_412+5del r.spl, r.spl? p.? J - likely pathogenic, pathogenic, VUS g.71153306_71153338del g.71442260_71442292del DHCR7(NM_001163817.1):c.385_412+5del (p.?) - DHCR7_000016 altered RNA processing, VKGL data sharing initiative Nederland PubMed: De Brasi et al. 1999 - - CLASSIFICATION record, Unknown - - - - - Division of Human Genetics, Innsbruck, VKGL-NL_Leiden
-?/. 1 - c.399C>T r.(?) p.(Ala133=) - - likely benign g.71153322G>A g.71442276G>A DHCR7(NM_001360.2):c.399C>T (p.A133=) - DHCR7_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 5 c.411A>G r.spl? p.(Ala137Ala) - - VUS g.71153310T>C g.71442264T>C - - DHCR7_000234 substitution may adversely effect splicing PubMed: Waye et al. 2007 - - Unknown - - - - - Division of Human Genetics, Innsbruck
?/? 1 5i c.412+3A>T r.spl? p.? - - VUS g.71153306T>A g.71442260T>A - - DHCR7_000240 predicted splice mutation PubMed: Koo et al. 2010 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+ 2 6 c.413G>T r.spl? p.(Gly138Val) - - pathogenic g.71152486C>A g.71441440C>A - - DHCR7_000193 G>T change at the first nucleotide of exon 6, reducing splice acceptor score PubMed: Waye et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
?/? 1 6 c.429T>A r.(?) p.(Tyr143*) - - VUS g.71152470A>T g.71441424A>T - - DHCR7_000237 - PubMed: Pappu et al. 2006 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 3 6 c.433A>C r.(?) p.(Ile145Leu) - - likely pathogenic g.71152466T>G g.71441420T>G - - DHCR7_000168 - PubMed: Waye et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 2 6 c.434T>C r.(?) p.(Ile145Thr) - - likely pathogenic g.71152465A>G g.71441419A>G - - DHCR7_000015 - PubMed: Waye et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
?/? 1 6 c.438C>G r.(?) p.(Asn146Lys) - - VUS g.71152461G>C g.71441415G>C - - DHCR7_000243 1 more item PubMed: Jezela-Stanek et al. 2010 - - Unknown - - - - - Division of Human Genetics, Innsbruck
-/. 3 - c.438T>C r.(?) p.(Asn146=) - - benign g.71152461A>G g.71441415A>G DHCR7(NM_001360.2):c.438T>C (p.N146=) - DHCR7_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+?/+? 4 6 c.440G>A r.(?) p.(Gly147Asp) - - likely pathogenic g.71152459C>T g.71441413C>T - - DHCR7_000158 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 6 c.443T>G r.(?) p.(Leu148Arg) - - likely pathogenic g.71152456A>C g.71441410A>C - - DHCR7_000196 - PubMed: Yu et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+, +/., +/? 115 6 c.452G>A r.(?) p.(Trp151*), p.(Trp151Ter) B, F - pathogenic g.71152447C>T g.71441401C>T DHCR7(NM_001163817.1):c.452G>A (p.(Trp151*)), DHCR7(NM_001360.2):c.452G>A (p.W151*) - DHCR7_000009 VKGL data sharing initiative Nederland PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 CLASSIFICATION record, Unknown - CZ1/56,E EU1/67 - - - Division of Human Genetics, Innsbruck, István Balogh, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
+/+, +?/+?, ?/. 3 6 c.461C>G r.(?) p.(Thr154Arg) - - likely pathogenic, pathogenic, VUS g.71152438G>C g.71441392G>C DHCR7(NM_001163817.1):c.461C>G (p.(Thr154Arg)) - DHCR7_000170 VKGL data sharing initiative Nederland PubMed: Witsch-Baumgartner et al. 2001 - - CLASSIFICATION record, Unknown - - - - - Division of Human Genetics, Innsbruck, VKGL-NL_Leiden
+/+ 7 6 c.461C>T r.(?) p.(Thr154Met) - - pathogenic g.71152438G>A g.71441392G>A - - DHCR7_000004 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+ 11 6 c.470T>C r.(?) p.(Leu157Pro) A - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 6 c.502T>A r.(?) p.(Phe168Ile) - - likely pathogenic g.71152397A>T g.71441351A>T - - DHCR7_000200 - PubMed: Yu et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+, +/. 4 6 c.506C>T r.(?) p.(Ser169Leu) J - pathogenic g.71152393G>A g.71441347G>A DHCR7(NM_001360.2):c.506C>T (p.S169L) - DHCR7_000071 VKGL data sharing initiative Nederland PubMed: Witsch-Baumgartner et al. 2000 - rs80338855 CLASSIFICATION record, Unknown - - - - - Division of Human Genetics, Innsbruck, VKGL-NL_Groningen
?/. 1 - c.518T>A r.(?) p.(Ile173Asn) - - VUS g.71152381A>T - DHCR7(NM_001360.2):c.518T>A (p.I173N) - DHCR7_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 6 c.523G>C r.(?) p.(Asp175His) - - likely pathogenic g.71152376C>G g.71441330C>G - - DHCR7_000204 - PubMed: Yu et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 6 c.529T>C r.(?) p.(Trp177Arg) - - likely pathogenic g.71152370A>G g.71441324A>G - - DHCR7_000207 - PubMed: Krakowiak et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+, +?/. 3 6 c.532A>T r.(?) p.(Ile178Phe) K - likely pathogenic, pathogenic g.71152367T>A g.71441321T>A - - DHCR7_000041 VKGL data sharing initiative Nederland PubMed: Nowaczyk et al. (2001), PubMed: Nowaczyk et al. 2001 - - CLASSIFICATION record, Unknown - - - - - Division of Human Genetics, Innsbruck, VKGL-NL_Nijmegen
+/+ 1 6 c.533T>A r.(?) p.(Ile178Asn) - - pathogenic g.71152366A>T g.71441320A>T - - DHCR7_000010 - PubMed: Witsch-Baumgartner et al. 2001 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 6 c.536C>T r.(?) p.(Pro179Leu) - - likely pathogenic g.71152363G>A g.71441317G>A - - DHCR7_000197 - PubMed: Yu et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+ 2 6 c.545G>T r.(?) p.(Trp182Leu) - - pathogenic g.71152354C>A g.71441308C>A - - DHCR7_000086 - PubMed: Jira et al. 2001 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 3 6 c.546G>C r.(?) p.(Trp182Cys) - - likely pathogenic g.71152353C>G g.71441307C>G - - DHCR7_000181 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 2 6 c.548G>A r.(?) p.(Cys183Tyr) - - likely pathogenic g.71152351C>T g.71441305C>T - - DHCR7_000213 - PubMed: Jira et al. 2001 - - Unknown - - - - - Division of Human Genetics, Innsbruck
-?/. 1 - c.570C>T r.(?) p.(Ala190=) - - likely benign g.71152329G>A - DHCR7(NM_001360.2):c.570C>T (p.A190=) - DHCR7_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 2 6 c.575C>T r.(?) p.(Ser192Phe) - - pathogenic g.71152324G>A g.71441278G>A - - DHCR7_000069 - PubMed: Witsch-Baumgartner et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 6 c.592A>C r.(?) p.(Lys198Glu) - - likely pathogenic g.71152307T>G g.71441261T>G - - DHCR7_000210 - PubMed: Jira et al. 2001 - - Unknown - - - - - Division of Human Genetics, Innsbruck
?/. 1 - c.616G>A r.(?) p.(Ala206Thr) - - VUS g.71152283C>T - DHCR7(NM_001360.2):c.616G>A (p.A206T) - DHCR7_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.626+15G>A r.(=) p.(=) - - benign g.71152258C>T g.71441212C>T DHCR7(NM_001360.2):c.626+15G>A - DHCR7_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/+? 1 6i c.627-1G>A r.spl p.? - - likely pathogenic g.71150130C>T g.71439084C>T - - DHCR7_000186 - - - - Unknown - - - - - Division of Human Genetics, Innsbruck
?/? 1 8 c.655T>G r.(?) p.(Tyr219Asp) - - VUS g.71150101A>C g.71439055A>C - - DHCR7_000242 - PubMed: Jezela-Stanek et al. 2008 - - Unknown - - - - - Division of Human Genetics, Innsbruck
?/. 1 - c.658A>C r.(?) p.(Met220Leu) - - VUS g.71150098T>G g.71439052T>G DHCR7(NM_001360.2):c.658A>C (p.M220L) - DHCR7_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/+? 1 7 c.670G>A r.(?) p.(Glu224Lys) - - likely pathogenic g.71150086C>T g.71439040C>T - - DHCR7_000085 - PubMed: Witsch-Baumgartner et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 7 c.679C>T r.(?) p.(Pro227Ser) - - likely pathogenic g.71150077G>A g.71439031G>A - - DHCR7_000058 - PubMed: Ko et al. 2010 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 7 c.682C>T r.(?) p.(Arg228Trp) J - likely pathogenic g.71150074G>A g.71439028G>A - - DHCR7_000183 - PubMed: Witsch-Baumgartner et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 7 c.700G>T r.(?) p.(Asp234Tyr) A - likely pathogenic g.71150056C>A g.71439010C>A - - DHCR7_000013 - PubMed: Nowaczyk et al. 2004 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 2 7 c.704T>C r.(?) p.(Phe235Ser) - - likely pathogenic g.71150052A>G g.71439006A>G - - DHCR7_000182 - PubMed: Waye et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 7 c.715T>C r.(?) p.(Phe239Leu) - - likely pathogenic g.71150041A>G g.71438995A>G - - DHCR7_000221 - - - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 7 c.720A>T r.(?) p.(Asn240Ser) - - likely pathogenic g.71150036T>A g.71438990T>A - - DHCR7_000184 1 more item - - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+ 1 7 c.720_735del r.(?) p.(Asn240Lysfs*22) A - pathogenic g.71150021_71150036del g.71438975_71438990del - - DHCR7_000011 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+, +/. 10 7 c.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A DHCR7(NM_001360.2):c.724C>T (p.R242C) - DHCR7_000036 VKGL data sharing initiative Nederland PubMed: Neklason et al. 1999 - rs80338856 CLASSIFICATION record, Unknown - - - - - Division of Human Genetics, Innsbruck, VKGL-NL_Groningen
+/+, +/., +?/. 12 7 c.725G>A r.(?) p.(Arg242His) A - likely pathogenic, pathogenic g.71150031C>T g.71438985C>T DHCR7(NM_001360.2):c.725G>A (p.R242H) - DHCR7_000022 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Krakowiak et al. 2000, PubMed: Narang 2020, Journal: Narang 2020 - rs80338857 CLASSIFICATION record, Germline, Unknown - 1/2794 individuals - - - Division of Human Genetics, Innsbruck, István Balogh, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc, Mohammed Faruq
+?/+? 2 7 c.728C>G r.(?) p.(Pro243Arg) - - likely pathogenic g.71150028G>C g.71438982G>C - - DHCR7_000203 - PubMed: Yu et al. 2000 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+, +/. 5 7 c.730G>A r.(?) p.(Gly244Arg) - - pathogenic g.71150026C>T g.71438980C>T - - DHCR7_000165 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020, PubMed: Waterham et al. 1998 - rs121909764 Germline, Unknown - 1/2794 individuals - - - Division of Human Genetics, Innsbruck, István Balogh, Mohammed Faruq
+/?, +?/+? 5 7 c.740C>T r.(?) p.(Ala247Val) A - likely pathogenic, pathogenic g.71150016G>A g.71438970G>A - - DHCR7_000007 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - Division of Human Genetics, Innsbruck, István Balogh
?/? 1 7 c.744G>C r.(?) p.(Trp248Cys) - - VUS g.71150012C>G g.71438966C>G - - DHCR7_000244 - PubMed: Waterham et al. 1998 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 2 7 c.744G>T r.(?) p.(Trp248Cys) - - likely pathogenic g.71150012C>A g.71438966C>A - - DHCR7_000211 - PubMed: Waterham et al. 1998 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 1 7 c.765C>A r.(?) p.(Phe255Leu) - - likely pathogenic g.71149991G>T g.71438945G>T - - DHCR7_000212 - PubMed: Jira et al. 2001 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/. 1 - c.778C>T r.(?) p.(Arg260Trp) - ACMG likely pathogenic (recessive) g.71149978G>A g.71438932G>A - - DHCR7_000279 ACMG PM1,PM2,PM5 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
+/+ 1 7 c.808A>G r.(?) p.(Met270Val) - - pathogenic g.71149948T>C g.71438902T>C - - DHCR7_000171 - PubMed: Witsch-Baumgartner et al. 2001 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+?/+? 2 7 c.822C>A r.(?) p.(Asn274Lys) A - likely pathogenic g.71149934G>T g.71438888G>T - - DHCR7_000226 - PubMed: Scalco et al. 2005 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+ 1 8 c.839A>G r.(?) p.(Tyr280Cys) - - pathogenic g.71148982T>C g.71437936T>C - - DHCR7_000224 - PubMed: Prasad et al. 2002 - - Unknown - - - - - Division of Human Genetics, Innsbruck
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