Unique variants in the CYP21A2 gene

Information The variants shown are described using the NM_000500.7 transcript reference sequence.

427 entries on 5 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 1 c.-326G>A r.(=) p.(=) - - likely benign g.32005874G>A g.32038097G>A - - CYP21A2_000126 - - - - Germline - - - - - Stephanie Kleinle
-/. 2 1 c.-308G>C r.(=) p.(=) - - benign g.32005892G>C g.32038115G>C - - CYP21A2_000095 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/. 1 1 c.-308G>T r.(=) p.(=) - - likely benign g.32005892G>T g.32038115G>T - - CYP21A2_000127 - - - rs3130676 Germline - - - - - Stephanie Kleinle
-?/., -/. 2 1 c.-296T>C r.(=) p.(=) - - likely benign, benign g.32005904T>C g.32038127T>C - - CYP21A2_000080 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/., -/. 2 1 c.-295A>C r.(=) p.(=) - - likely benign, benign g.32005905A>C g.32038128A>C - - CYP21A2_000081 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/., -/. 2 1 c.-284A>G r.(=) p.(=) - - likely benign, benign g.32005916A>G g.32038139A>G - - CYP21A2_000082 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/., -/. 2 1 c.-282T>G r.(=) p.(=) - - likely benign, benign g.32005918T>G g.32038141T>G - - CYP21A2_000083 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/., -/. 2 1 c.-210T>C r.(=) p.(=) - - likely benign, benign g.32005990T>C g.32038213T>C - - CYP21A2_000084 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/., -/. 2 1 c.-199C>T r.(=) p.(=) - - likely benign, benign g.32006001C>T g.32038224C>T - - CYP21A2_000085 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/., -/. 2 1 c.-196T>C r.(=) p.(=) - - likely benign, benign g.32006004T>C g.32038227T>C - - CYP21A2_000086 - - - rs75470363 Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/. 1 1 c.-190del r.(=) p.(=) - - likely benign g.32006010del g.32038233del - - CYP21A2_000128 - - - rs903535946 Germline - - - - - Stephanie Kleinle
-?/., -/. 2 1 c.-190dup r.(=) p.(=) - - likely benign, benign g.32006010dup g.32038233dup - - CYP21A2_000087 (pseudogene-derived), pseudogene derived - - rs11449852 Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/. 1 - c.-142A>C r.(?) p.(=) - - likely benign g.32006058A>C g.32038281A>C - - CYP21A2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., ?/. 4 _1 c.-126C>T r.(=) p.(=) - - pathogenic, VUS g.32006074C>T g.32038297C>T -117C>T - CYP21A2_000088 Promotorconversion, promoter conversion (pseudogene-derived) PubMed: Chin 1998, PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - rs191516492 Germline - - - - - Andreas Laner, Stephanie Kleinle, Johan den Dunnen
?/., -?/. 2 1 c.-121C>T r.(=), r.(?) p.(=) - - VUS, likely benign g.32006079C>T g.32038302C>T - - CYP21A2_000103 VKGL data sharing initiative Nederland - - rs183137942 Germline, CLASSIFICATION record - - - - - Stephanie Kleinle, VKGL-NL_Nijmegen
?/., +/., +?/. 5 _1 c.-113G>A r.(?), r.(=) p.(=) - - VUS, pathogenic, likely pathogenic g.32006087G>A g.32038310G>A -104G>A - CYP21A2_000089 VKGL data sharing initiative Nederland, Promotorconversion, promoter conversion (pseudogene-derived), 1 more item PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked), PubMed: Chin 1998 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Andreas Laner, Stephanie Kleinle, Johan den Dunnen
?/., +/. 5 _1 c.-110T>C r.(?), r.spl?, r.(=) p.(=), p.? - - VUS, pathogenic g.32006090T>C g.32038313T>C -101T>C - CYP21A2_000090 VKGL data sharing initiative Nederland, Promotorconversion, promoter conversion, (pseudogene-derived), 1 more item PubMed: Chin 1998, PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Andreas Laner, Johan den Dunnen
+/. 3 1_4 c.(?_-107)_(477+1_478-1)del r.spl? p.? - - pathogenic g.(?_32006093)_(32007163_32005721)del - - - CYP21A2_000130 - - - - Germline - - - - - Stephanie Kleinle
+/. 3 1_6i, _1_6i c.(?_-107)_(738+1_739-1)del r.spl? p.?, p.(?) - - pathogenic g.(?_32006093)_(32007613_32007781)del - c.293-13C>G, I2G, IVS2-13 - CYP21A2_000125 (pseudogene-derived) - - - Germline - - - - - Stephanie Kleinle
+/., ?/. 5 1 c.-103A>G r.(=), r.(?) p.(=) - - pathogenic, VUS g.32006097A>G g.32038320A>G -94A>G - CYP21A2_000091 Promotorconversion, VKGL data sharing initiative Nederland, promoter conversion (pseudogene-derived) PubMed: Chin 1998, PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - - Germline, CLASSIFICATION record - - - - - Andreas Laner, VKGL-NL_Nijmegen, Johan den Dunnen
-?/. 1 - c.-82C>T r.(?) p.(=) - - likely benign g.32006118C>T g.32038341C>T - - CYP21A2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., -?/. 2 1 c.-81A>C r.(=) p.(=) - - VUS, likely benign g.32006119A>C g.32038342A>C - - CYP21A2_000092 - - - rs554941446 Germline - - - - - Andreas Laner, Stephanie Kleinle
?/. 2 1 c.-73C>T r.(=) p.(=) - - VUS g.32006127C>T g.32038350C>T - - CYP21A2_000093 - - - rs186349245 Germline - - - - - Andreas Laner, Stephanie Kleinle
-?/. 1 - c.-8G>A r.(?) p.(=) - - likely benign g.32006192G>A g.32038415G>A - - C4B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 1 c.-4C>T r.(=), r.(?) p.(=) - - benign, likely benign g.32006196C>T g.32038419C>T - - CYP21A2_000094 pseudogene derived, VKGL data sharing initiative Nederland, (pseudogene-derived) - - rs6470 Germline, CLASSIFICATION record - - - - - Andreas Laner, VKGL-NL_Nijmegen, Stephanie Kleinle
+/. 2 1_10 c.(?_-1)_(*1_?)del r.? p.? - - pathogenic g.(?_32006199)_(32008912_?)del - - - CYP21A2_000132 - PubMed: White 1998 - - Germline - - - - - Stephanie Kleinle
-?/. 2 1_10 c.(?_-1)_(*1_?)dup r.? p.? - - likely benign g.(?_32006199)_(32008912_?)dup - - - CYP21A2_000131 - - - - Germline - - - - - Stephanie Kleinle
-?/. 2 1_10 c.?_?ins[(?_293-80);A;293-78_954;T;956_*11;T;(*13_?)] r.? p.? - - likely benign g.?_?ins[(?_32006791);A;32006793_32008197;T;32008199_32008922;T;(32008924_?)] - c.[955C>T;duplication entire gene;293-79G>A;*12C>T] p.[Gln319*;duplication entire gene] - CYP21A2_000124 - PubMed: Parajes 2008, PubMed: Kleinle 2009 (to be checked) - - Germline - - - - - Stephanie Kleinle
-/. 2 1 c.29_31del r.(?) p.(Leu10del) - - benign g.32006228_32006230del g.32038451_32038453del - - CYP21A2_000057, CYP21A2_000133 CYP21A2*2 PubMed: Rodrigues 1988 Higashi 1991 - - Germline - - - - - Andreas Laner, Stephanie Kleinle
-?/. 1 - c.49C>G r.(?) p.(Arg17Gly) - - likely benign g.32006248C>G g.32038471C>G CYP21A2(NM_001128590.3):c.49C>G (p.R17G) - C4B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.49C>T r.(?) p.(Arg17Cys) - - VUS g.32006248C>T g.32038471C>T CYP21A2(NM_000500.9):c.49C>T (p.R17C) - C4B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.60G>A r.(?) p.(Trp20Ter) - - pathogenic g.32006259G>A g.32038482G>A - - C4B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.64T>C r.(?) p.(Trp22Arg) - - likely benign g.32006263T>C g.32038486T>C - - CYP21A2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 1 c.92C>T r.(?) p.(Pro31Leu) - - pathogenic g.32006291C>T g.32038514C>T - - CYP21A2_000058 (pseudogene-derived) PubMed: Tusie-Luna 1991 - - Germline - - - - - Andreas Laner, Stephanie Kleinle
?/. 1 - c.104C>T r.(?) p.(Pro35Leu) - - VUS g.32006303C>T g.32038526C>T CYP21A2(NM_001128590.3):c.104C>T (p.P35L) - C4B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.115C>T r.(?) p.(His39Tyr) - - benign g.32006314C>T g.32038537C>T CYP21A2(NM_000500.9):c.115C>T (p.H39Y) - CYP21A2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 3 1 c.118C>T r.(?), r.(=) p.(Leu40=), p.(=) - - benign g.32006317C>T g.32038540C>T - - CYP21A2_000059 VKGL data sharing initiative Nederland - - rs112529934 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Andreas Laner, Stephanie Kleinle
-?/. 1 - c.121C>T r.(?) p.(Leu41=) - - likely benign g.32006320C>T g.32038543C>T - - CYP21A2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.135C>A r.(?) p.(Leu45=) - - benign g.32006334C>A g.32038557C>A CYP21A2(NM_000500.9):c.135C>A (p.L45=) - CYP21A2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 3 1 c.138C>A r.(=), r.(?) p.(=), p.(Pro46=) - - benign g.32006337C>A g.32038560C>A - - CYP21A2_000060 VKGL data sharing initiative Nederland - - rs113712954 Germline, CLASSIFICATION record - - - - - Andreas Laner, Stephanie Kleinle, VKGL-NL_Nijmegen
-?/. 1 - c.142T>C r.(?) p.(Tyr48His) - - likely benign g.32006341T>C g.32038564T>C - - C4B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.169G>A r.(?) p.(Gly57Arg) - - likely pathogenic g.32006368G>A g.32038591G>A - - CYP21A2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 11 1 c.188A>T r.(?) p.(His63Leu) - - likely benign, VUS g.32006387A>T g.32038610A>T CYP21A2(NM_001128590.3):c.188A>T (p.H63L) - CYP21A2_000002 ExAC MAF 4.4%, in literature described in cis with pathogenic variant, 1 more item PubMed: Soardi 2008, PubMed: Menassa 2008 - rs9378252 Germline, CLASSIFICATION record - - - - - Stephanie Kleinle, Gerard C.P. Schaafsma, VKGL-NL_Nijmegen, VKGL-NL_Groningen, Andreas Laner
-?/. 1 1i c.202+42del r.(=) p.(=) - - likely benign g.32006443del g.32038666del - - CYP21A2_000134 - - - rs767736158 Germline - - - - - Stephanie Kleinle
+/. 1 2 c.233T>C r.(?) p.(Ile78Thr) - - pathogenic g.32006529T>C g.32038752T>C - - CYP21A2_000135 - PubMed: Haider 2013, PubMed: Krone 2005 (to be checked) - - Germline - - - - - Stephanie Kleinle
?/. 1 2 c.244A>G r.(?) p.(Met82Val) - - VUS g.32006540A>G g.32038763A>G c.293-13C>G(;)1360C>T(;)244A>G p.Pro454Ser(;)Met82Val - CYP21A2_000136 - - - - Germline - - - - - Stephanie Kleinle
+/. 2 - c.292+5G>A r.spl? p.? - - pathogenic g.32006593G>A g.32038816G>A - - CYP21A2_000061 pathogenic in cis with c.844G>T p.Val282Leu - - - Germline - - - - - Andreas Laner
+/. 1 2i_7 c.[c.292+5G>A;844G>T] r.(?) p.(Val282Leu) - - pathogenic g.[32006593G>A;32007887G>T] - c.[844G>T;c.292+5G>A];[deletion complete gene] (p.Val282Leu) - CYP21A2_000157 - PubMed: Marino 2011, PubMed: Friaes 2006 (to be checked) - - Germline - - - - - Stephanie Kleinle
-/., -?/. 3 2i c.292+9C>T r.(=) p.(=) - - benign, likely benign g.32006597C>T g.32038820C>T - - CYP21A2_000062 VKGL data sharing initiative Nederland - - rs6462 Germline, CLASSIFICATION record - - - - - Andreas Laner, Stephanie Kleinle, VKGL-NL_Nijmegen
-/., -?/. 2 2i c.292+33A>C r.(=) p.(=) - - benign, likely benign g.32006621A>C g.32038844A>C - - CYP21A2_000063 pseudogene derived, (pseudogene-derived) - - rs6463 Germline - - - - - Andreas Laner, Stephanie Kleinle
-?/. 1 2i c.292+34A>C r.(=) p.(=) - - likely benign g.32006622A>C g.32038845A>C - - CYP21A2_000137 - - - - Germline - - - - - Stephanie Kleinle
-?/. 1 2i c.292+37T>A r.(=) p.(=) - - likely benign g.32006625T>A g.32038848T>A - - CYP21A2_000138 - - - - Germline - - - - - Stephanie Kleinle
-/., -?/. 2 2i c.292+47delinsTGTT r.(=) p.(=) - - benign, likely benign g.32006635delinsTGTT g.32038858delinsTGTT - - CYP21A2_000064 pseudogene derived, (pseudogene-derived) - - - Germline - - - - - Andreas Laner, Stephanie Kleinle
-?/., -/. 2 2i c.292+56T>G r.(=) p.(=) - - likely benign, benign g.32006644T>G g.32038867T>G - - CYP21A2_000065 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.292+67C>T r.(=) p.(=) - - benign g.32006655C>T g.32038878C>T - - CYP21A2_000066 (pseudogene-derived), pseudogene derived - - rs6449 Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/., -/. 2 2i c.292+84A>G r.(=) p.(=) - - likely benign, benign g.32006672A>G g.32038895A>G - - CYP21A2_000067 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/., -/. 2 2i c.292+92A>G r.(=) p.(=) - - likely benign, benign g.32006680A>G g.32038903A>G - - CYP21A2_000068 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.292+100A>G r.(=) p.(=) - - benign g.32006688A>G g.32038911A>G - - CYP21A2_000069 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.292+116A>G r.(=) p.(=) - - benign g.32006704A>G g.32038927A>G - - CYP21A2_000030 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/., -/. 2 2i c.292+127T>G r.(=) p.(=) - - likely benign, benign g.32006715T>G g.32038938T>G - - CYP21A2_000031 (pseudogene-derived)], pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
?/., -?/. 2 2i c.292+132C>T r.(=) p.(=) - - VUS, likely benign g.32006720C>T g.32038943C>T - - CYP21A2_000032 - - - - Germline - - - - - Andreas Laner, Stephanie Kleinle
-?/. 1 2i c.292+134C>T r.(=) p.(=) - - likely benign g.32006722C>T g.32038945C>T - - CYP21A2_000139 - - - rs11757034 Germline - - - - - Stephanie Kleinle
-?/., -/. 2 2i c.292+138T>C r.(=) p.(=) - - likely benign, benign g.32006726T>C g.32038949T>C - - CYP21A2_000033 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.293-141dup r.(=) p.(=) - - benign g.32006730dup g.32038953dup - - CYP21A2_000140, CYP21A2_000034 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.293-139A>T r.(=) p.(=) - - benign g.32006732A>T g.32038955A>T - - CYP21A2_000035 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.293-131_293-129dup r.(=) p.(=) - - benign g.32006740_32006742dup g.32038963_32038965dup - - CYP21A2_000141, CYP21A2_000036 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.293-123C>A r.(=) p.(=) - - benign g.32006748C>A g.32038971C>A - - CYP21A2_000037 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
?/., -/. 2 2i c.293-109G>C r.(=) p.(=) - - VUS, benign g.32006762G>C g.32038985G>C - - CYP21A2_000038 - - - - Germline - - - - - Andreas Laner, Stephanie Kleinle
-/. 2 2i c.293-104del r.(=) p.(=) - - benign g.32006767del g.32038990del - - CYP21A2_000142, CYP21A2_000039 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.293-96G>T r.(=) p.(=) - - benign g.32006775G>T g.32038998G>T - - CYP21A2_000040 pseudogene derived, (pseudogene-derived) - - - Germline - - - - - Andreas Laner, Stephanie Kleinle
-/. 2 2i c.293-95G>C r.(=) p.(=) - - benign g.32006776G>C g.32038999G>C - - CYP21A2_000006 pseudogene derived, (pseudogene-derived) - - - Germline - - - - - Andreas Laner, Stephanie Kleinle
-/. 2 2i c.293-94T>A r.(=) p.(=) - - benign g.32006777T>A g.32039000T>A - - CYP21A2_000007 pseudogene derived, (pseudogene-derived) - - - Germline - - - - - Andreas Laner, Stephanie Kleinle
-/. 2 2i c.293-91G>A r.(=) p.(=) - - benign g.32006780G>A g.32039003G>A - - CYP21A2_000008 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.293-88G>A r.(=) p.(=) - - benign g.32006783G>A g.32039006G>A - - CYP21A2_000009 pseudogene derived, (pseudogene-derived) - - - Germline - - - - - Andreas Laner, Stephanie Kleinle
-/. 2 2i c.293-87A>G r.(=) p.(=) - - benign g.32006784A>G g.32039007A>G - - CYP21A2_000010 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.293-80G>A r.(=) p.(=) - - benign g.32006791G>A g.32039014G>A - - CYP21A2_000011 - - - rs79249676 Germline - - - - - Andreas Laner, Stephanie Kleinle
-/. 1 - c.293-79G>A r.(=) p.(=) - - benign g.32006792G>A g.32039015G>A - - CYP21A2_000012 in combination with Gln319*dup-Allel - - rs114414746 Germline - - - - - Andreas Laner
-/. 2 2i c.293-74G>A r.(=) p.(=) - - benign g.32006797G>A g.32039020G>A - - CYP21A2_000013 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.293-67C>A r.(=) p.(=) - - benign g.32006804C>A g.32039027C>A - - CYP21A2_000014 (pseudogene-derived), pseudogene derived - - rs112979552 Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 1 2i c.293-67C>G r.(=) p.(=) - - benign g.32006804C>G g.32039027C>G - - CYP21A2_000143 - - - rs6451 Germline - - - - - Stephanie Kleinle
-?/. 1 2i c.293-67C>T r.(=) p.(=) - - likely benign g.32006804C>T g.32039027C>T - - CYP21A2_000144 - - - - Germline - - - - - Stephanie Kleinle
-/. 2 2i c.293-48A>G r.(=) p.(=) - - benign g.32006823A>G g.32039046A>G - - CYP21A2_000015 - - - rs59064806 Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 2 2i c.293-44G>T r.(=) p.(=) - - benign g.32006827G>T g.32039050G>T - - CYP21A2_000016 - - - rs6453 Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/., ?/. 2 2i c.293-39_293-38delinsGG r.(=) p.(=) - - likely benign, VUS g.32006832_32006833delinsGG g.32039055_32039056delinsGG - - CYP21A2_000017 (pseudogene-derived), pseudogene derived - - - Germline - - - - - Stephanie Kleinle, Andreas Laner
-/. 1 2i c.293-38A>G r.(=) p.(=) - - benign g.32006833A>G g.32039056A>G - - CYP21A2_000145 - - - rs58256870 Germline - - - - - Stephanie Kleinle
-/. 1 - c.293-16C>A r.(=) p.(=) - - benign g.32006855C>A g.32039078C>A CYP21A2(NM_000500.9):c.293-16C>A - C4B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.293-14A>G r.(?) p.(=) - - pathogenic g.32006858A>G - 293-13A>G - CYP21A2_000167 - - - - De novo - - - - - Sha Hong
-/. 3 2i c.293-13C>A r.(=) p.(=) - - benign g.32006858C>A g.32039081C>A CYP21A2(NM_000500.9):c.293-13C>A - CYP21A2_000018 VKGL data sharing initiative Nederland - - rs112835082 Germline, CLASSIFICATION record - - - - - Andreas Laner, Stephanie Kleinle, VKGL-NL_Groningen
+/., +?/. 10 2i c.293-13C>G r.(=), r.spl p.(=), p.? - - pathogenic, likely pathogenic g.32006858C>G g.32039081C>G c.293-13C>G, I2G, IVS2-13 - CYP21A2_000019 pseudogene derived, (pseudogene-derived), VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Andreas Laner, Sha Hong, Stephanie Kleinle, VKGL-NL_Nijmegen
?/. 1 - c.293-7C>G r.(=) p.(=) - - VUS g.32006864C>G g.32039087C>G - - C4B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 2i c.293-4G>A r.spl? p.? - - likely benign, VUS g.32006867G>A g.32039090G>A - - CYP21A2_000020 1 more item - - rs147821751 Germline - - - - - Stephanie Kleinle, Andreas Laner
-?/. 1 3 c.303G>A r.(=) p.(=) - - likely benign g.32006881G>A g.32039104G>A - - CYP21A2_000146 - - - - Germline - - - - - Stephanie Kleinle
-/. 3 3 c.308G>A r.(?) p.(Arg103Lys) - - benign g.32006886G>A g.32039109G>A - - CYP21A2_000021 (pseudogene-derived), VKGL data sharing initiative Nederland, CYP21A2*3; pseudogene derived PubMed: Rodrigues 1988 - - Germline, CLASSIFICATION record - - - - - Stephanie Kleinle, VKGL-NL_Nijmegen, Andreas Laner
-/., -?/. 2 3 c.318G>A r.(?), r.(=) p.(Pro106=), p.(=) - - benign, likely benign g.32006896G>A g.32039119G>A - - CYP21A2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Stephanie Kleinle
-/. 2 3 c.318G>C r.(=) p.(=) - - benign g.32006896G>C g.32039119G>C - - CYP21A2_000022 - - - rs6455 Germline - - - - - Stephanie Kleinle, Andreas Laner
+/. 1 3 c.332_339del r.(?) p.(Gly111Valfs*21) - - pathogenic g.32006910_32006917del g.32039133_32039140del - - CYP21A2_000109 9bp deletion, (pseudogene-derived) PubMed: Higashi 1988, PubMed: New 2013, PubMed: White 1994 (to be checked) - rs387906510 Germline - - - - - Stephanie Kleinle
-?/. 1 3 c.345G>A r.(=) p.(=) - - likely benign g.32006923G>A g.32039146G>A - - CYP21A2_000147 - - - - Germline - - - - - Stephanie Kleinle
+?/. 1 - c.373C>T r.(?) p.(Arg125Cys) - - likely pathogenic g.32006951C>T g.32039174C>T - - C4B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.377C>G r.(?) p.(Ser126Ter) - - pathogenic g.32006955C>G g.32039178C>G - - CYP21A2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.421G>A r.(?) p.(Glu141Lys) - - pathogenic g.32006999G>A g.32039222G>A - - C4B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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