Full data view for gene CYP11B1

Information The variants shown are described using the NM_000497.3 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

Template     

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Disease     

ID_report     

Reference     

Remarks     

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+/. - c.-7_(1121+1_1122-1){0} r.? p.0? - Both (homozygous) ACMG pathogenic g.(143956729_143957127)_(143961236_?)del g.(142875313_142875711)_(142879820_?)del 1_1121del - CYP11B1_000057 - PubMed: Duan 2023 - - De novo - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat41 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-7_(1121+1_1122-1){0} r.? p.0? - Unknown ACMG pathogenic g.(143956729_143957127)_(143961236_?)del g.(142875313_142875711)_(142879820_?)del 1_1121del - CYP11B1_000057 - PubMed: Duan 2023 - - De novo - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat38 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-7_(1121+1_1122-1){0} r.? p.0? - Unknown ACMG pathogenic g.(143956729_143957127)_(143961236_?)del g.(142875313_142875711)_(142879820_?)del 1_1121del - CYP11B1_000057 - PubMed: Duan 2023 - - De novo - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat40 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.50C>T r.(?) p.(Ser17Phe) - Unknown - likely benign g.143961180G>A - CYP11B1(NM_000497.3):c.50C>T (p.S17F) - CYP11B1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.61del r.(?) p.(Ala21HisfsTer30) - Maternal (confirmed) ACMG likely pathogenic g.143961171del g.142879755del - - CYP11B1_000068 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat34 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.77C>T r.(?) p.(Thr26Met) - Unknown - likely benign g.143961153G>A - CYP11B1(NM_000497.4):c.77C>T (p.(Thr26Met)) - CYP11B1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.138C>T r.(?) p.(=) - Unknown - VUS g.143961092G>A - CYP11B1(NM_000497.4):c.138C>T (p.(Gly46=)) - CYP11B1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172G>A r.(?) p.(Glu58Lys) - Unknown - VUS g.143961058C>T - CYP11B1(NM_000497.3):c.172G>A (p.(Glu58Lys)) - CYP11B1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.217C>T r.(?) p.(Gln73*) - Maternal (confirmed) ACMG likely pathogenic g.143961013G>A - - - CYP11B1_000036 - - - - Germline - - - - - DNA SEQ, SEQ-NG - - adrenal hyperplasia - - - M no China - - - - - 1 Guorui Hu
-/. - c.225A>G r.(?) p.(Leu75=) - Unknown - benign g.143961005T>C g.142879589T>C CYP11B1(NM_000497.4):c.225A>G (p.L75=) - CYP11B1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.225A>G r.(?) p.(Leu75=) - Unknown - benign g.143961005T>C g.142879589T>C CYP11B1(NM_000497.4):c.225A>G (p.L75=) - CYP11B1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.239+1G>C r.spl p.? - Both (homozygous) ACMG pathogenic g.143960990C>G g.142879574C>G - - CYP11B1_000067 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat43 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-/. - c.243C>T r.(?) p.(Tyr81=) - Unknown - benign g.143960600G>A g.142879184G>A - - CYP11B1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246C>T r.(?) p.(Asp82=) - Unknown - benign g.143960597G>A g.142879181G>A CYP11B1(NM_000497.4):c.246C>T (p.D82=) - CYP11B1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246C>T r.(?) p.(Asp82=) - Unknown - benign g.143960597G>A g.142879181G>A CYP11B1(NM_000497.4):c.246C>T (p.D82=) - CYP11B1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.363_365del r.(?) p.(Gln121del) - Paternal (confirmed) ACMG VUS g.143960481_143960483del g.142879065_142879067del - - CYP11B1_000066 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat36 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.385G>A r.(?) p.(Val129Met) - Unknown - likely pathogenic g.143960458C>T - CYP11B1(NM_000497.3):c.385G>A (p.V129M) - CYP11B1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.388T>C r.(?) p.(Phe130Leu) - Paternal (confirmed) ACMG likely pathogenic g.143960455A>G g.142879039A>G - - CYP11B1_000065 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat37 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.395+9C>T r.(=) p.(=) - Unknown - likely benign g.143960439G>A - CYP11B1(NM_000497.3):c.395+9C>T - CYP11B1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.396-612A>G r.(=) p.(=) - Unknown - benign g.143959250T>C g.142877834T>C CYP11B1(NM_000497.4):c.396-612A>G - CYP11B1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.400G>C r.(?) p.(Gly134Arg) - Maternal (confirmed) ACMG VUS g.143958634C>G - - - CYP11B1_000035 - - - - Germline - - - - - DNA SEQ, SEQ-NG - - adrenal hyperplasia - - - - - - - - - - - 1 Guorui Hu
+/. - c.421C>T r.(?) p.(Arg141*) - Paternal (confirmed) ACMG pathogenic g.143958613G>A - - - CYP11B1_000034 - - - - Germline - - - - - DNA SEQ, SEQ-NG - - adrenal hyperplasia - - - M no China - - - - - 1 Guorui Hu
-?/. - c.435T>C r.(?) p.(Asn145=) - Unknown - likely benign g.143958599A>G g.142877183A>G - - CYP11B1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441A>T r.(?) p.(Glu147Asp) - Unknown - likely benign g.143958593T>A g.142877177T>A - - CYP11B1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.449C>T r.(?) p.(Ser150Leu) - Unknown - pathogenic g.143958585G>A g.142877169G>A - - CYP11B1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456C>G r.(?) p.(Asn152Lys) - Unknown - likely benign g.143958578G>C g.142877162G>C CYP11B1(NM_000497.3):c.456C>G (p.N152K) - CYP11B1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456C>G r.(?) p.(Asn152Lys) - Unknown - likely benign g.143958578G>C - CYP11B1(NM_000497.3):c.456C>G (p.N152K) - CYP11B1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459T>C r.(?) p.(Ala153=) - Unknown - likely benign g.143958575A>G g.142877159A>G - - CYP11B1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555C>T r.(?) p.(=) - Unknown - likely benign g.143958479G>A - CYP11B1(NM_000497.3):c.555C>T (p.T185=) - CYP11B1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.595+1G>A r.spl p.? - Maternal (confirmed) ACMG pathogenic g.143958438C>T g.142877022C>T - - CYP11B1_000064 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat32 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-/. - c.595+12G>A r.(=) p.(=) - Unknown - benign g.143958427C>T g.142877011C>T CYP11B1(NM_000497.4):c.595+12G>A - CYP11B1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.595+12G>A r.(=) p.(=) - Unknown - benign g.143958427C>T g.142877011C>T CYP11B1(NM_000497.4):c.595+12G>A - CYP11B1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.615del r.(?) p.(Phe205Leufs*17) - Unknown - likely pathogenic g.143958286del - CYP11B1(NM_000497.3):c.615delT (p.F205Lfs*17) - CYP11B1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.712dup r.(?) p.(Met238Asnfs*21) - Unknown - likely pathogenic g.143958185dup - CYP11B1(NM_000497.4):c.712dup (p.(Met238Asnfs*21)) - CYP11B1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.743C>T r.(?) p.(Thr248Ile) - Unknown - likely benign g.143958154G>A - CYP11B1(NM_000497.3):c.743C>T (p.T248I) - CYP11B1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.793C>T r.(?) p.(Gln265Ter) - Unknown - pathogenic g.143958104G>A g.142876688G>A - - CYP11B1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.799G>A r.(?) p.(Gly267Ser) - Unknown - pathogenic g.143958098C>T g.142876682C>T - - CYP11B1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.799G>A r.(?) p.(Gly267Ser) - Paternal (confirmed) - pathogenic g.143958098C>T - - - CYP11B1_000015 - - - - Germline - - - - - DNA SEQ, SEQ-NG - - adrenal hyperplasia - - - - - - - - - - - 1 Guorui Hu
+/. - c.799+5G>C r.spl? p.? - Unknown - pathogenic g.143958093C>G g.142876677C>G CYP11B1(NM_000497.4):c.799+5G>C - CYP11B1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.799+5G>C r.spl? p.? - Unknown - likely pathogenic g.143958093C>G - CYP11B1(NM_000497.4):c.799+5G>C - CYP11B1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.800-3T>G r.spl p.? - Paternal (confirmed) ACMG VUS g.143957814A>C g.142876398A>C - - CYP11B1_000063 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat34 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.825T>C r.(?) p.(Tyr275=) - Unknown - likely benign g.143957786A>G - CYP11B1(NM_000497.3):c.825T>C (p.Y275=) - CYP11B1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.858C>A r.(?) p.(Tyr286Ter) - Paternal (confirmed) ACMG likely pathogenic g.143957753G>T g.142876337G>T - - CYP11B1_000062 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat42 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.896T>C r.(?) p.(Leu299Pro) - Unknown - pathogenic g.143957715A>G g.142876299A>G - - CYP11B1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.907del r.(?) p.(Ala303ProfsTer22) - Maternal (confirmed) ACMG likely pathogenic g.143957704del g.142876288del - - CYP11B1_000061 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat35 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.916G>A r.(?) p.(Ala306Thr) - Unknown - likely pathogenic g.143957695C>T - CYP11B1(NM_000497.4):c.916G>A (p.(Ala306Thr)) - CYP11B1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930A>G r.(?) p.(=) - Unknown - likely benign g.143957681T>C - CYP11B1(NM_000497.3):c.930A>G (p.E310=) - CYP11B1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.940G>C r.(?) p.(Gly314Arg) - Unknown - pathogenic g.143957671C>G g.142876255C>G - - CYP11B1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.945C>A r.(?) p.(Ser315Arg) - Maternal (confirmed) ACMG likely pathogenic g.143957666G>T g.142876250G>T - - CYP11B1_000059 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat36 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
?/. - c.945C>G r.(?) p.(Ser315Arg) - Paternal (confirmed) ACMG VUS g.143957666G>C g.142876250G>C - - CYP11B1_000060 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat32 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.953C>T r.(?) p.(Thr318Met) - Parent #1 - pathogenic g.143957658G>A g.142876242G>A - - CYP11B1_000030 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894061 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.954G>C r.spl p.(?,Thr318=) - Paternal (confirmed) ACMG pathogenic g.143957657C>G g.142876241C>G - - CYP11B1_000058 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat33 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
?/. - c.954+148C>G r.(=) p.(=) - Unknown - VUS g.143957509G>C g.142876093G>C - - CYP11B1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.995G>A r.(?) p.(Arg332Gln) - Unknown - pathogenic g.143957254C>T - CYP11B1(NM_000497.4):c.995G>A (p.(Arg332Gln)) - CYP11B1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1003A>G r.(?) p.(Asn335Asp) - Unknown - likely benign g.143957246T>C - CYP11B1(NM_000497.3):c.1003A>G (p.N335D) - CYP11B1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1014G>A r.(?) p.(Gln338=) - Unknown - likely benign g.143957235C>T g.142875819C>T CYP11B1(NM_000497.3):c.1014G>A (p.Q338=) - CYP11B1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1014G>A r.(?) p.(Gln338=) - Unknown - likely benign g.143957235C>T - CYP11B1(NM_000497.3):c.1014G>A (p.Q338=) - CYP11B1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.1027G>A r.(?) p.(Glu343Lys) - Both (homozygous) - likely pathogenic (recessive) g.143957222C>T g.142875806C>T - - CYP11B1_000076 - - - - Germline - - - - - DNA SEQ - - steroid 11-beta-monooxygenase deficiency - - - M - Greece - - - - - 1 Irene (Eirini) Fylaktou
-?/. - c.1064C>T r.(?) p.(Pro355Leu) - Unknown - likely benign g.143957185G>A g.142875769G>A CYP11B1(NM_000497.3):c.1064C>T (p.P355L) - CYP11B1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1066C>T r.(?) p.(Gln356*) - Unknown - pathogenic g.143957183G>A - CYP11B1(NM_000497.3):c.1066C>T (p.Q356*), CYP11B1(NM_000497.4):c.1066C>T (p.(Gln356*), p.Q356*) - CYP11B1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1066C>T r.(?) p.(Gln356*) - Unknown - pathogenic g.143957183G>A - CYP11B1(NM_000497.3):c.1066C>T (p.Q356*), CYP11B1(NM_000497.4):c.1066C>T (p.(Gln356*), p.Q356*) - CYP11B1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1066C>T r.(?) p.(Gln356*) - Unknown - pathogenic g.143957183G>A - CYP11B1(NM_000497.3):c.1066C>T (p.Q356*), CYP11B1(NM_000497.4):c.1066C>T (p.(Gln356*), p.Q356*) - CYP11B1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1066C>T r.(?) p.(Gln356*) - Unknown - pathogenic g.143957183G>A - CYP11B1(NM_000497.3):c.1066C>T (p.Q356*), CYP11B1(NM_000497.4):c.1066C>T (p.(Gln356*), p.Q356*) - CYP11B1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1086G>C r.(?) p.(Leu362=) - Unknown - benign g.143957163C>G g.142875747C>G - - CYP11B1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1120C>A r.(?) p.(Arg374=) - Unknown - benign g.143957129G>T g.142875713G>T CYP11B1(NM_000497.3):c.1120C>A (p.R374=) - CYP11B1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1120C>A r.(?) p.(Arg374=) - Unknown - benign g.143957129G>T - CYP11B1(NM_000497.3):c.1120C>A (p.R374=) - CYP11B1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122-80T>G r.(=) p.(=) - Unknown - benign g.143956808A>C g.142875392A>C CYP11B1(NM_000497.4):c.1122-80T>G - CYP11B1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1125C>G r.(?) p.(Leu375=) - Unknown - likely benign g.143956725G>C g.142875309G>C - - CYP11B1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1150_1153del r.(?) p.(Arg384Trpfs*45) - Paternal (confirmed) ACMG likely pathogenic (recessive) g.143956697_143956700del g.142875281_142875284del - - CYP11B1_000031 - - - - Germline - - - - - DNA PCRq, SEQ, SEQ-NG - - adrenal hyperplasia - - - - - - - - - - - 1 Guorui Hu
+/. - c.1150_1153del r.(?) p.(Arg384TrpfsTer45) - Paternal (confirmed) ACMG pathogenic g.143956700_143956703del g.142875284_142875287del - - CYP11B1_000031 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat39 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.1151G>A r.(?) p.(Arg384Gln) - Unknown - pathogenic g.143956699C>T - - - CYP11B1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1157C>T r.(?) p.(Ala386Val) - Unknown - benign g.143956693G>A g.142875277G>A CYP11B1(NM_000497.3):c.1157C>T (p.A386V) - CYP11B1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1219del r.(?) p.(Leu407SerfsTer23) - Maternal (confirmed) ACMG likely pathogenic g.143956553del g.142875137del - - CYP11B1_000056 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat33 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.1266C>G r.(?) p.(Arg422=) - Unknown - likely benign g.143956505G>C - CYP11B1(NM_000497.3):c.1266C>G (p.R422=) - CYP11B1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1272C>T r.(?) p.(Asn424=) - Unknown - likely benign g.143956499G>A - CYP11B1(NM_000497.3):c.1272C>T (p.N424=) - CYP11B1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1325C>T r.(?) p.(Pro442Leu) - Maternal (confirmed) ACMG likely pathogenic g.143956446G>A g.142875030G>A - - CYP11B1_000055 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat40 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.1342C>T r.(?) p.(Arg448Cys) - Maternal (confirmed) ACMG likely pathogenic g.143956429G>A g.142875013G>A - - CYP11B1_000054 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat37 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-/. - c.1353T>C r.(?) p.(Leu451=) - Unknown - benign g.143956418A>G - CYP11B1(NM_000497.3):c.1353T>C (p.L451=) - CYP11B1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1353T>C r.(?) p.(Leu451=) - Unknown - likely benign g.143956418A>G - CYP11B1(NM_000497.3):c.1353T>C (p.L451=) - CYP11B1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1359dup r.(?) p.(Arg454AlafsTer84) - Unknown ACMG pathogenic g.143956413dup g.142874997dup - - CYP11B1_000053 - PubMed: Duan 2023 - - De novo - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat38 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.1360C>T r.(?) p.(Arg454Cys) - Maternal (confirmed) ACMG likely pathogenic g.143956411G>A - - - CYP11B1_000033 - - - - Germline - - - - - DNA SEQ, SEQ-NG - - adrenal hyperplasia - - - F no China - - - - - 1 Guorui Hu
+/. - c.1360C>T r.(?) p.(Arg454Cys) - Paternal (confirmed) ACMG pathogenic g.143956411G>A g.142874995G>A - - CYP11B1_000033 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat35 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.1388_1393dup r.(?) p.(Leu463_Leu464dup) - Maternal (confirmed) ACMG likely pathogenic g.143956387_143956392dup g.142874971_142874976dup - - CYP11B1_000051 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat39 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.1391_1393del r.(?) p.(Leu464del) - Maternal (confirmed) ACMG likely pathogenic g.143956390_143956392del g.142874974_142874976del - - CYP11B1_000052 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat42 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.1398+5G>C r.spl? p.? - Paternal (confirmed) ACMG likely pathogenic g.143956368C>G - - - CYP11B1_000032 - - - - Germline - - - - - DNA SEQ, SEQ-NG - - adrenal hyperplasia - - - F no China - - - - - 1 Guorui Hu
?/. - c.1398+5G>C r.spl? p.? - Unknown - VUS g.143956368C>G - CYP11B1(NM_000497.4):c.1398+5G>C - CYP11B1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1399-14G>C r.(=) p.(=) - Unknown - benign g.143955916C>G g.142874500C>G - - CYP11B1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1451T>A r.(?) p.(Val484Asp) - Unknown - likely benign g.143955850A>T - CYP11B1(NM_000497.3):c.1451T>A (p.V484D) - CYP11B1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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