All variants in the CYP21A2 gene

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

656 entries on 7 pages. Showing entries 1 - 100.
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Effect     

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.-326G>A r.(=) p.(=) - - likely benign g.32005874G>A g.32038097G>A - - CYP21A2_000126 - - - - Germline - - - 0 - Stephanie Kleinle
-/. - c.-308G>C r.(=) p.(=) - - benign g.32005892G>C g.32038115G>C - - CYP21A2_000095 pseudogene derived - - - Germline - - - 0 - Andreas Laner
-/. 1 c.-308G>C r.(=) p.(=) - - benign g.32005892G>C g.32038115G>C - - CYP21A2_000095 (pseudogene-derived) - - - Germline - - - 0 - Stephanie Kleinle
-?/. 1 c.-308G>T r.(=) p.(=) - - likely benign g.32005892G>T g.32038115G>T - - CYP21A2_000127 - - - rs3130676 Germline - - - 0 - Stephanie Kleinle
-/. - c.-296T>C r.(=) p.(=) - - benign g.32005904T>C g.32038127T>C - - CYP21A2_000080 pseudogene derived - - - Germline - - - 0 - Andreas Laner
-?/. 1 c.-296T>C r.(=) p.(=) - - likely benign g.32005904T>C g.32038127T>C - - CYP21A2_000080 (pseudogene-derived) - - - Germline - - - 0 - Stephanie Kleinle
-/. - c.-295A>C r.(=) p.(=) - - benign g.32005905A>C g.32038128A>C - - CYP21A2_000081 pseudogene derived - - - Germline - - - 0 - Andreas Laner
-?/. 1 c.-295A>C r.(=) p.(=) - - likely benign g.32005905A>C g.32038128A>C - - CYP21A2_000081 (pseudogene-derived) - - - Germline - - - 0 - Stephanie Kleinle
-/. - c.-284A>G r.(=) p.(=) - - benign g.32005916A>G g.32038139A>G - - CYP21A2_000082 pseudogene derived - - - Germline - - - 0 - Andreas Laner
-?/. 1 c.-284A>G r.(=) p.(=) - - likely benign g.32005916A>G g.32038139A>G - - CYP21A2_000082 (pseudogene-derived) - - - Germline - - - 0 - Stephanie Kleinle
-/. - c.-282T>G r.(=) p.(=) - - benign g.32005918T>G g.32038141T>G - - CYP21A2_000083 pseudogene derived - - - Germline - - - 0 - Andreas Laner
-?/. 1 c.-282T>G r.(=) p.(=) - - likely benign g.32005918T>G g.32038141T>G - - CYP21A2_000083 (pseudogene-derived) - - - Germline - - - 0 - Stephanie Kleinle
-/. - c.-210T>C r.(=) p.(=) - - benign g.32005990T>C g.32038213T>C - - CYP21A2_000084 pseudogene derived - - - Germline - - - 0 - Andreas Laner
-?/. 1 c.-210T>C r.(=) p.(=) - - likely benign g.32005990T>C g.32038213T>C - - CYP21A2_000084 (pseudogene-derived) - - - Germline - - - 0 - Stephanie Kleinle
-/. - c.-199C>T r.(=) p.(=) - - benign g.32006001C>T g.32038224C>T - - CYP21A2_000085 pseudogene derived - - - Germline - - - 0 - Andreas Laner
-?/. 1 c.-199C>T r.(=) p.(=) - - likely benign g.32006001C>T g.32038224C>T - - CYP21A2_000085 (pseudogene-derived) - - - Germline - - - 0 - Stephanie Kleinle
-/. - c.-196T>C r.(=) p.(=) - - benign g.32006004T>C g.32038227T>C - - CYP21A2_000086 - - - rs75470363 Germline - - - 0 - Andreas Laner
-?/. 1 c.-196T>C r.(=) p.(=) - - likely benign g.32006004T>C g.32038227T>C - - CYP21A2_000086 - - - rs75470363 Germline - - - 0 - Stephanie Kleinle
-?/. 1 c.-190del r.(=) p.(=) - - likely benign g.32006010del g.32038233del - - CYP21A2_000128 - - - rs903535946 Germline - - - 0 - Stephanie Kleinle
-/. - c.-190dup r.(=) p.(=) - - benign g.32006010dup g.32038233dup - - CYP21A2_000087 pseudogene derived - - - Germline - - - 0 - Andreas Laner
-?/. 1 c.-190dup r.(=) p.(=) - - likely benign g.32006010dup g.32038233dup - - CYP21A2_000087 (pseudogene-derived) - - rs11449852 Germline - - - 0 - Stephanie Kleinle
-?/. - c.-142A>C r.(?) p.(=) - - likely benign g.32006058A>C g.32038281A>C - - CYP21A2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.-126C>T r.(=) p.(=) - - pathogenic g.32006074C>T g.32038297C>T - - CYP21A2_000088 Promotorconversion - - - Germline - - - 0 - Andreas Laner
?/. _1 c.-126C>T r.(=) p.(=) - - VUS g.32006074C>T g.32038297C>T -117C>T - CYP21A2_000088 promoter conversion (pseudogene-derived) PubMed: Chin 1998 - rs191516492 Germline - - - 0 - Stephanie Kleinle
?/. _1 c.-126C>T r.(=) p.(=) - - VUS g.32006074C>T g.32038297C>T - - CYP21A2_000088 promoter conversion (pseudogene-derived) PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - - Germline - - - 0 - Stephanie Kleinle
?/. _1 c.-126C>T r.(=) p.(=) - - VUS g.32006074C>T g.32038297C>T - - CYP21A2_000088 promoter conversion (pseudogene-derived) PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - - Germline - - - 0 - Johan den Dunnen
-?/. - c.-121C>T r.(?) p.(=) - - likely benign g.32006079C>T g.32038302C>T - - CYP21A2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 1 c.-121C>T r.(=) p.(=) - - VUS g.32006079C>T g.32038302C>T - - CYP21A2_000103 - - - rs183137942 Germline - - - 0 - Stephanie Kleinle
+/. - c.-113G>A r.(=) p.(=) - - pathogenic g.32006087G>A g.32038310G>A - - CYP21A2_000089 Promotorconversion - - - Germline - - - 0 - Andreas Laner
?/. - c.-113G>A r.(?) p.(=) - - VUS g.32006087G>A g.32038310G>A - - CYP21A2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. _1 c.-113G>A r.(=) p.(=) - - likely pathogenic g.32006087G>A g.32038310G>A - - CYP21A2_000089 promoter conversion (pseudogene-derived) PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - - Germline - - - 0 - Stephanie Kleinle
+?/. _1 c.-113G>A r.(=) p.(=) - - likely pathogenic g.32006087G>A g.32038310G>A -104G>A - CYP21A2_000089 promoter conversion (pseudogene-derived); variant reduces basal transcription activity PubMed: Chin 1998 - - Germline - - - 0 - Johan den Dunnen
+?/. _1 c.-113G>A r.(=) p.(=) - - likely pathogenic g.32006087G>A g.32038310G>A - - CYP21A2_000089 promoter conversion (pseudogene-derived) PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - - Germline - - - 0 - Johan den Dunnen
+/. - c.-110T>C r.spl? p.? - - pathogenic g.32006090T>C g.32038313T>C - - CYP21A2_000090 Promotorconversion - - - Germline - - - 0 - Andreas Laner
?/. - c.-110T>C r.(?) p.(=) - - VUS g.32006090T>C g.32038313T>C - - CYP21A2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. _1 c.-110T>C r.(=) p.(=) - - VUS g.32006090T>C g.32038313T>C -101T>C - CYP21A2_000090 promoter conversion, (pseudogene-derived) PubMed: Chin 1998 - - Germline - - - 0 - Johan den Dunnen
?/. _1 c.-110T>C r.(=) p.(=) - - VUS g.32006090T>C g.32038313T>C - - CYP21A2_000090 promoter conversion (pseudogene-derived) PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - - Germline - - - 0 - Johan den Dunnen
?/. _1 c.-110T>C r.(=) p.(=) - - VUS g.32006090T>C g.32038313T>C - - CYP21A2_000090 promoter conversion (pseudogene-derived) PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - - Germline - - - 0 - Johan den Dunnen
+/. 1_4 c.(?_-107)_(477+1_478-1)del r.spl? p.? - - pathogenic g.(?_32006093)_(32007163_32005721)del - - - CYP21A2_000130 - - - - Germline - - - 0 - Stephanie Kleinle
+/. 1_4 c.(?_-107)_(477+1_478-1)del r.spl? p.? - - pathogenic g.(?_32006093)_(32007163_32005721)del - - - CYP21A2_000130 - - - - Germline - - - 0 - Stephanie Kleinle
+/. 1_4 c.(?_-107)_(477+1_478-1)del r.spl? p.? - - pathogenic g.(?_32006093)_(32007163_32005721)del - - - CYP21A2_000130 - - - - Germline - - - 0 - Stephanie Kleinle
+/. 1_6i c.(?_-107)_(738+1_739-1)del r.spl? p.? - - pathogenic g.(?_32006093)_(32007613_32007781)del - - - CYP21A2_000125 - - - - Germline - - - 0 - Stephanie Kleinle
+/. 1_6i c.(?_-107)_(738+1_739-1)del r.spl? p.? - - pathogenic g.(?_32006093)_(32007613_32007781)del - - - CYP21A2_000125 - - - - Germline - - - 0 - Stephanie Kleinle
+/. _1_6i c.(?_-107)_(738+1_739-1)del r.spl? p.(?) - - pathogenic g.(?_32006093)_(32007613_32007781)del - c.293-13C>G, I2G, IVS2-13 - CYP21A2_000125 (pseudogene-derived) - - - Germline - - - 0 - Stephanie Kleinle
+/. - c.-103A>G r.(=) p.(=) - - pathogenic g.32006097A>G g.32038320A>G - - CYP21A2_000091 Promotorconversion - - - Germline - - - 0 - Andreas Laner
?/. - c.-103A>G r.(?) p.(=) - - VUS g.32006097A>G g.32038320A>G - - CYP21A2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 1 c.-103A>G r.(=) p.(=) - - VUS g.32006097A>G g.32038320A>G -94A>G - CYP21A2_000091 promoter conversion (pseudogene-derived) PubMed: Chin 1998 - - Germline - - - 0 - Johan den Dunnen
?/. 1 c.-103A>G r.(=) p.(=) - - VUS g.32006097A>G g.32038320A>G - - CYP21A2_000091 promoter conversion (pseudogene-derived) PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - - Germline - - - 0 - Johan den Dunnen
?/. 1 c.-103A>G r.(=) p.(=) - - VUS g.32006097A>G g.32038320A>G - - CYP21A2_000091 promoter conversion (pseudogene-derived) PubMed: Chin 1998, PubMed: Bristow 1993 (to be checked) - - Germline - - - 0 - Johan den Dunnen
-?/. - c.-82C>T r.(?) p.(=) - - likely benign g.32006118C>T g.32038341C>T - - CYP21A2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.-81A>C r.(=) p.(=) - - VUS g.32006119A>C g.32038342A>C - - CYP21A2_000092 - - - - Germline - - - 0 - Andreas Laner
-?/. 1 c.-81A>C r.(=) p.(=) - - likely benign g.32006119A>C g.32038342A>C - - CYP21A2_000092 - - - rs554941446 Germline - - - 0 - Stephanie Kleinle
?/. - c.-73C>T r.(=) p.(=) - - VUS g.32006127C>T g.32038350C>T - - CYP21A2_000093 - - - - Germline - - - 0 - Andreas Laner
?/. 1 c.-73C>T r.(=) p.(=) - - VUS g.32006127C>T g.32038350C>T - - CYP21A2_000093 - - - rs186349245 Germline - - - 0 - Stephanie Kleinle
-?/. - 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
-/. - c.-4C>T r.(=) p.(=) - - benign g.32006196C>T g.32038419C>T - - CYP21A2_000094 pseudogene derived - - rs6470 Germline - - - 0 - Andreas Laner
-?/. - c.-4C>T r.(?) p.(=) - - likely benign g.32006196C>T g.32038419C>T - - CYP21A2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 1 c.-4C>T r.(=) p.(=) - - benign g.32006196C>T g.32038419C>T - - CYP21A2_000094 (pseudogene-derived) - - rs6470 Germline - - - 0 - Stephanie Kleinle
+/. 1_10 c.(?_-1)_(*1_?)del r.? p.? - - pathogenic g.(?_32006199)_(32008912_?)del - - - CYP21A2_000132 - PubMed: White 1998 - - Germline - - - 0 - Stephanie Kleinle
+/. 1_10 c.(?_-1)_(*1_?)del r.? p.? - - pathogenic g.(?_32006199)_(32008912_?)del - - - CYP21A2_000132 - PubMed: White 1998 - - Germline - - - 0 - Stephanie Kleinle
-?/. 1_10 c.(?_-1)_(*1_?)dup r.? p.? - - likely benign g.(?_32006199)_(32008912_?)dup - - - CYP21A2_000131 - - - - Germline - - - 0 - Stephanie Kleinle
-?/. 1_10 c.(?_-1)_(*1_?)dup r.? p.? - - likely benign g.(?_32006199)_(32008912_?)dup - - - CYP21A2_000131 - - - - Germline - - - 0 - Stephanie Kleinle
-?/. 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 - - - 0 - Stephanie Kleinle
-?/. 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 - - - 0 - Stephanie Kleinle
-/. - c.29_31del r.(?) p.(Leu10del) - - benign g.32006228_32006230del g.32038451_32038453del - - CYP21A2_000057 CYP21A2*2 - - - Germline - - - 0 - Andreas Laner
-/. 1 c.29_31del r.(?) p.(Leu10del) - - benign g.32006228_32006230del g.32038451_32038453del - - CYP21A2_000133 - PubMed: Rodrigues 1988 Higashi 1991 - - Germline - - - 0 - Stephanie Kleinle
-?/. - 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
?/. - 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
+/. - 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
-?/. - c.64T>C r.(?) p.(Trp22Arg) - - likely benign g.32006263T>C g.32038486T>C - - CYP21A2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.92C>T r.(?) p.(Pro31Leu) - - pathogenic g.32006291C>T g.32038514C>T - - CYP21A2_000058 - - - - Germline - - - 0 - Andreas Laner
+/. 1 c.92C>T r.(?) p.(Pro31Leu) - - pathogenic g.32006291C>T g.32038514C>T - - CYP21A2_000058 (pseudogene-derived) PubMed: Tusie-Luna 1991 - - Germline - - - 0 - Stephanie Kleinle
?/. - 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
-/. - 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 - - - 0 - VKGL-NL_Groningen
-/. - c.118C>T r.(=) p.(=) - - benign g.32006317C>T g.32038540C>T - - CYP21A2_000059 - - - rs112529934 Germline - - - 0 - Andreas Laner
-/. - c.118C>T r.(?) p.(Leu40=) - - benign g.32006317C>T g.32038540C>T - - CYP21A2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 1 c.118C>T r.(=) p.(=) - - benign g.32006317C>T g.32038540C>T - - CYP21A2_000059 - - - rs112529934 Germline - - - 0 - Stephanie Kleinle
-?/. - c.121C>T r.(?) p.(Leu41=) - - likely benign g.32006320C>T g.32038543C>T - - CYP21A2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - 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 - - - 0 - VKGL-NL_Groningen
-/. - c.138C>A r.(=) p.(=) - - benign g.32006337C>A g.32038560C>A - - CYP21A2_000060 - - - rs113712954 Germline - - - 0 - Andreas Laner
-/. - c.138C>A r.(?) p.(Pro46=) - - benign g.32006337C>A g.32038560C>A - - CYP21A2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 1 c.138C>A r.(=) p.(=) - - benign g.32006337C>A g.32038560C>A - - CYP21A2_000060 - - - rs113712954 Germline - - - 0 - Stephanie Kleinle
-?/. - 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
+?/. - c.169G>A r.(?) p.(Gly57Arg) - - likely pathogenic g.32006368G>A g.32038591G>A - - CYP21A2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 1 c.188A>T r.(?) p.(His63Leu) - - VUS g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.188A>T r.(?) p.(His63Leu) - - VUS g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.188A>T r.(?) p.(His63Leu) - - VUS g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.188A>T r.(?) p.(His63Leu) - - VUS g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.188A>T r.(?) p.(His63Leu) - - VUS g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.188A>T r.(?) p.(His63Leu) - - VUS g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.188A>T r.(?) p.(His63Leu) - - VUS g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.188A>T r.(?) p.(His63Leu) - - VUS g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - rs9378252 Germline - - - 0 - Andreas Laner
?/. - c.188A>T r.(?) p.(His63Leu) - - VUS g.32006387A>T g.32038610A>T CYP21A2(NM_001128590.3):c.188A>T (p.H63L) - CYP21A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. 1 c.188A>T r.(?) p.(His63Leu) - - likely benign g.32006387A>T g.32038610A>T - - CYP21A2_000002 ExAC MAF 4.4%, in literature described in cis with pathogenic variant PubMed: Soardi 2008, PubMed: Menassa 2008 - rs9378252 Germline - - - 0 - Stephanie Kleinle
?/. - c.188A>T r.(?) p.(His63Leu) - - VUS g.32006387A>T g.32038610A>T CYP21A2(NM_001128590.3):c.188A>T (p.H63L) - CYP21A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1i c.202+42del r.(=) p.(=) - - likely benign g.32006443del g.32038666del - - CYP21A2_000134 - - - rs767736158 Germline - - - 0 - Stephanie Kleinle
+/. 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 - - - 0 - Stephanie Kleinle
?/. 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 - - - 0 - Stephanie Kleinle
+/. - c.292+5G>A r.spl? p.? - - pathogenic g.32006593G>A g.32038816G>A - - CYP21A2_000061 - - - - Germline - - - 0 - Andreas Laner
+/. - 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 - - - 0 - Andreas Laner
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