Full data view for gene STAR

Information The variants shown are described using the NM_000349.2 transcript reference sequence.

94 entries on 1 page. Showing entries 1 - 94.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Owner     
+/. - c.-264_(64+1_65-1){0} r.0? p.0? Unknown ACMG pathogenic g.(38006273_38008272)_(38008600_?)del g.(38148755_38150754)_(38151082_?)del 1_65del - STAR_000039 - PubMed: Duan 2023 - - De novo - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat21 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.-70G>T r.(?) p.(=) Unknown - likely benign g.38008406C>A g.38150888C>A - - STAR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58A>T r.(?) p.(Met20Leu) Unknown - VUS g.38008279T>A g.38150761T>A STAR(NM_000349.2):c.58A>T (p.(Met20Leu)) - STAR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120G>A r.(?) p.(Leu40=) Unknown - likely benign g.38006217C>T g.38148699C>T STAR(NM_000349.2):c.120G>A (p.L40=) - STAR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.125del r.(?) p.(Gly42AlafsTer67) Paternal (confirmed) ACMG pathogenic g.38006217del g.38148699del - - STAR_000038 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat23 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.177C>T r.(?) p.(Leu59=) Unknown - likely benign g.38006160G>A - STAR(NM_000349.2):c.177C>T (p.L59=) - STAR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179-15G>T r.? p.? Maternal (confirmed) ACMG VUS g.38005860G>T - - - STAR_000024 - - - - Germline - - - - - DNA SEQ-NG - - adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete - - - - - (China) - - - - - 1 Wenjuan Qiu
?/. - c.179-15G>T r.spl p.? Maternal (confirmed) ACMG VUS g.38005860G>A g.38148342G>A - - STAR_000024 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat16 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.179-2A>C r.spl? p.? Paternal (confirmed) ACMG likely pathogenic g.38005847A>C - - - STAR_000023 - - - - Germline - - - - - DNA SEQ-NG - - adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete - - - - - - - - - - - 1 Wenjuan Qiu
+?/. - c.179-2A>C r.spl p.? Paternal (confirmed) ACMG likely pathogenic g.38005847T>G g.38148329T>G - - STAR_000023 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat21 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
?/. - c.184C>T r.(?) p.(Arg62Trp) Unknown - VUS g.38005840G>A - STAR(NM_000349.3):c.184C>T (p.(Arg62Trp)) - STAR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.189= r.(=) p.(Leu63=) Unknown - benign g.38005835T>C g.38148317= STAR(NM_000349.3):c.189A>G (p.L63=) - STAR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.201_202del r.(?) p.(Tyr68GlnfsTer2) Paternal (confirmed) ACMG pathogenic g.38005826_38005827del g.38148308_38148309del - - STAR_000037 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat9 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.201_202del r.(?) p.(Tyr68GlnfsTer2) Paternal (confirmed) ACMG pathogenic g.38005826_38005827del g.38148308_38148309del - - STAR_000037 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat17 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.229C>T r.(?) p.(Gln77Ter) Maternal (confirmed) ACMG pathogenic g.38005795G>A g.38148277G>A - - STAR_000036 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat9 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.229C>T r.(?) p.(Gln77Ter) Maternal (confirmed) ACMG pathogenic g.38005795G>A g.38148277G>A - - STAR_000036 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat10 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.229C>T r.(?) p.(Gln77Ter) Maternal (confirmed) ACMG pathogenic g.38005795G>A g.38148277G>A - - STAR_000036 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat13 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.229C>T r.(?) p.(Gln77Ter) Maternal (confirmed) ACMG pathogenic g.38005795G>A g.38148277G>A - - STAR_000036 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat31a PubMed: Duan 2023 family, 2 affected - - China - - - - - 2 Johan den Dunnen
+/. - c.229C>T r.(?) p.(Gln77Ter) Maternal (confirmed) ACMG pathogenic g.38005795G>A g.38148277G>A - - STAR_000036 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat31b PubMed: Duan 2023 relative - - China - - - - - 1 Johan den Dunnen
+/. - c.229C>T r.(?) p.(Gln77Ter) Paternal (confirmed) ACMG pathogenic g.38005795G>A g.38148277G>A - - STAR_000036 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat26 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.235G>T r.(?) p.(Gly79Trp) Both (homozygous) ACMG likely pathogenic g.38005789C>A g.38148271C>A - - STAR_000035 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat29 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.306+10G>A r.(=) p.(=) Unknown - likely benign g.38005708C>T - STAR(NM_000349.3):c.306+10G>A - STAR_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.358T>G r.(?) p.(Phe120Val) Paternal (confirmed) ACMG likely pathogenic g.38003914A>C g.38146396A>C - - STAR_000034 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat31a PubMed: Duan 2023 family, 2 affected - - China - - - - - 2 Johan den Dunnen
+?/. - c.358T>G r.(?) p.(Phe120Val) Paternal (confirmed) ACMG likely pathogenic g.38003914A>C g.38146396A>C - - STAR_000034 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat31b PubMed: Duan 2023 relative - - China - - - - - 1 Johan den Dunnen
?/. - c.361C>T r.(?) p.(Arg121Trp) Unknown - VUS g.38003911G>A g.38146393G>A STAR(NM_000349.2):c.361C>T (p.R121W) - STAR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.441G>A r.(?) p.(Trp147Ter) Unknown - pathogenic g.38003831C>T g.38146313C>T - - STAR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.465+2T>A r.spl? p.? Paternal (confirmed) ACMG likely pathogenic g.38003805T>A - - - STAR_000022 - - - - Germline - - - - - DNA SEQ - - adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete - - - - - China - - - - - 1 Wenjuan Qiu
+?/. - c.465+2T>A r.spl p.? Paternal (confirmed) ACMG likely pathogenic g.38003805A>T g.38146287A>T - - STAR_000022 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat8 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.465+2T>A r.spl p.? Paternal (confirmed) ACMG likely pathogenic g.38003805A>T g.38146287A>T - - STAR_000022 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat30a PubMed: Duan 2023 family, 2 affected - - China - - - - - 2 Johan den Dunnen
+?/. - c.465+2T>A r.spl p.? Paternal (confirmed) ACMG likely pathogenic g.38003805A>T g.38146287A>T - - STAR_000022 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat30b PubMed: Duan 2023 relative - - China - - - - - 1 Johan den Dunnen
-/. - c.465+20A>G r.(=) p.(=) Unknown - benign g.38003787T>C g.38146269T>C STAR(NM_000349.3):c.465+20A>G - STAR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466-5G>A r.spl? p.? Unknown - VUS g.38003670C>T g.38146152C>T STAR(NM_000349.2):c.466-5G>A - STAR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487G>C r.(?) p.(Asp163His) Unknown - VUS g.38003644C>G g.38146126C>G - - STAR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.491C>A r.(?) p.(Thr164Lys) Paternal (confirmed) ACMG likely pathogenic g.38003640G>T g.38146122G>T - - STAR_000033 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat24 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.509T>C r.(?) p.(Leu170Pro) Maternal (confirmed) ACMG likely pathogenic g.38003622A>G g.38146104A>G - - STAR_000032 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat5 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.544C>T r.(?) p.(Arg182Cys) Maternal (confirmed) ACMG pathogenic g.38003587G>A g.38146069G>A - - STAR_000031 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat11 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.544C>T r.(?) p.(Arg182Cys) Maternal (confirmed) ACMG pathogenic g.38003587G>A g.38146069G>A - - STAR_000031 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat19 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.544C>T r.(?) p.(Arg182Cys) Paternal (confirmed) ACMG pathogenic g.38003587G>A g.38146069G>A - - STAR_000031 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat10 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
?/. - c.545G>A r.(?) p.(Arg182His) Unknown - VUS g.38003586C>T g.38146068C>T STAR(NM_000349.2):c.545G>A (p.R182H) - STAR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.545G>A r.(?) p.(Arg182His) Both (homozygous) ACMG pathogenic g.38003586C>T g.38146068C>T - - STAR_000005 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat18 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.556A>G r.(?) p.(Ser186Gly) Unknown - likely pathogenic g.38003575T>C - - - STAR_000018 - - - - Unknown - - - - - DNA SEQ-NG - - LCAH 55 - - F - China - - - - - 1 Sha Hong
+?/. - c.556A>G r.(?) p.(Ser186Gly) Maternal (confirmed) ACMG likely pathogenic g.38003575T>C g.38146057T>C - - STAR_000018 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat7 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.556A>G r.(?) p.(Ser186Gly) Parent #2 ACMG likely pathogenic g.38003575T>C g.38146057T>C - - STAR_000018 - PubMed: Duan 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat20 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.562C>T r.(?) p.(Arg188Cys) Unknown - likely pathogenic g.38003569G>A g.38146051G>A STAR(NM_000349.3):c.562C>T (p.R188C) - STAR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.562C>T r.(?) p.(Arg188Cys) Parent #1 - pathogenic g.38003569G>A g.38146051G>A - - STAR_000004 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894090 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.562C>T r.(?) p.(Arg188Cys) Maternal (confirmed) ACMG pathogenic g.38003569G>A g.38146051G>A - - STAR_000004 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat25 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.562C>T r.(?) p.(Arg188Cys) Paternal (confirmed) ACMG pathogenic g.38003569G>A g.38146051G>A - - STAR_000004 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat14 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.569C>T r.(?) p.(Ala190Val) Unknown - likely benign g.38003562G>A g.38146044G>A STAR(NM_000349.2):c.569C>T (p.A190V) - STAR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.577C>T r.(?) p.(Arg193Ter) Paternal (confirmed) ACMG pathogenic g.38003554G>A g.38146036G>A - - STAR_000030 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat4 PubMed: Duan 2023 patient - - China - - - - - 3 Johan den Dunnen
?/. - c.587C>T r.(?) p.(Thr196Ile) Unknown - VUS g.38003544G>A - STAR(NM_000349.3):c.587C>T (p.(Thr196Ile)) - STAR_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.643G>A r.(?) p.(Val215Ile) Unknown - VUS g.38003488C>T - STAR(NM_000349.3):c.643G>A (p.V215I) - STAR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.652G>A r.(?) p.(Ala218Thr) Unknown - VUS g.38002832C>T - STAR(NM_000349.3):c.652G>A (p.(Ala218Thr)) - STAR_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.677T>C r.(?) p.(Val226Ala) Unknown - VUS g.38002807A>G - STAR(NM_000349.3):c.677T>C (p.(Val226Ala)) - STAR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.687G>A r.(?) p.(Pro229=) Unknown - likely benign g.38002797C>T g.38145279C>T STAR(NM_000349.2):c.687G>A (p.P229=) - STAR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.695del r.(?) p.(Gly232GlufsTer89) Paternal (confirmed) ACMG pathogenic g.38002790del g.38145272del - - STAR_000029 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat6 PubMed: Duan 2023 patient - - China - - - - - 2 Johan den Dunnen
+?/. - c.707_708delinsCTT r.(?) p.(Lys236ThrfsTer47) Maternal (confirmed) ACMG likely pathogenic g.38002776_38002777delinsAAG g.38145258_38145259delinsAAG 707_708delAGinsCTT - STAR_000028 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat24 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.707_708delinsCTT r.(?) p.(Lys236ThrfsTer47) Maternal (confirmed) ACMG likely pathogenic g.38002776_38002777delinsAAG g.38145258_38145259delinsAAG 707_708delAGinsCTT - STAR_000028 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat30a PubMed: Duan 2023 family, 2 affected - - China - - - - - 2 Johan den Dunnen
+?/. - c.707_708delinsCTT r.(?) p.(Lys236ThrfsTer47) Maternal (confirmed) ACMG likely pathogenic g.38002776_38002777delinsAAG g.38145258_38145259delinsAAG 707_708delAGinsCTT - STAR_000028 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat30b PubMed: Duan 2023 relative - - China - - - - - 1 Johan den Dunnen
+?/. - c.707_708delinsCTT r.(?) p.(Lys236ThrfsTer47) Paternal (confirmed) ACMG likely pathogenic g.38002776_38002777delinsAAG g.38145258_38145259delinsAAG 707_708delAGinsCTT - STAR_000028 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat3 PubMed: Duan 2023 patient - - China - - - - - 2 Johan den Dunnen
+?/. - c.707_708delinsCTT r.(?) p.(Lys236ThrfsTer47) Paternal (confirmed) ACMG likely pathogenic g.38002776_38002777delinsAAG g.38145258_38145259delinsAAG 707_708delAGinsCTT - STAR_000028 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat5 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.707_708delinsCTT r.(?) p.(Lys236ThrfsTer47) Paternal (confirmed) ACMG likely pathogenic g.38002776_38002777delinsAAG g.38145258_38145259delinsAAG 707_708delAGinsCTT - STAR_000028 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat7 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.707_708delinsCTT r.(?) p.(Lys236ThrfsTer47) Paternal (confirmed) ACMG likely pathogenic g.38002776_38002777delinsAAG g.38145258_38145259delinsAAG 707_708delAGinsCTT - STAR_000028 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat12 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.707_708delinsCTT r.(?) p.(Lys236ThrfsTer47) Paternal (confirmed) ACMG likely pathogenic g.38002776_38002777delinsAAG g.38145258_38145259delinsAAG 707_708delAGinsCTT - STAR_000028 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat13 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.713_714del r.(?) p.(Lys238ThrfsTer44) Parent #2 ACMG likely pathogenic g.38002771_38002772del g.38145253_38145254del - - STAR_000026 - PubMed: Duan 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat22 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.714del r.(?) p.(Lys238AsnfsTer83) Maternal (confirmed) ACMG pathogenic g.38002772del g.38145254del - - STAR_000027 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat3 PubMed: Duan 2023 patient - - China - - - - - 2 Johan den Dunnen
+?/. - c.714del r.(?) p.(Lys238AsnfsTer83) Paternal (confirmed) ACMG likely pathogenic g.38002772del g.38145254del - - STAR_000027 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat19 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.714del r.(?) p.(Lys238AsnfsTer83) Paternal (confirmed) ACMG pathogenic g.38002772del g.38145254del - - STAR_000027 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat27 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.719del r.(?) p.(Thr240Serfs*81) Parent #1 - pathogenic g.38002765del g.38145247del NM_000349:c.719delC 46,XY STAR_000011 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat149 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.719del r.(?) p.(Thr240SerfsTer81) Paternal (confirmed) ACMG likely pathogenic g.38002765del g.38145247del - - STAR_000011 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat1 PubMed: Duan 2023 patient - - China - - - - - 2 Johan den Dunnen
+?/. - c.744+1G>A r.spl? p.? Paternal (confirmed) ACMG likely pathogenic g.38002739G>A - - - STAR_000021 - - - - Germline - - - - - DNA SEQ - - adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete - - - - - - - - - - - 1 Wenjuan Qiu
+?/. - c.744+1G>A r.spl p.? Paternal (confirmed) ACMG likely pathogenic g.38002739C>T g.38145221C>T - - STAR_000021 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat25 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.745-1G>A r.spl p.? Maternal (confirmed) ACMG likely pathogenic g.38001905C>T g.38144387C>T - - STAR_000020 - - - - Germline - - - - - DNA ? - - adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete - - - - - - - - - - - 1 Wenjuan Qiu
+?/. - c.745-1G>A r.spl p.? Maternal (confirmed) ACMG likely pathogenic g.38001905C>T g.38144387C>T - - STAR_000020 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat12 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258*) Unknown - pathogenic g.38001877G>A - - - STAR_000017 - - - - Unknown - - - - - DNA SEQ-NG - - LCAH 55 - - F - China - - - - - 1 Sha Hong
+/. - c.772C>T r.(?) p.(Gln258Ter) Maternal (confirmed) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat1 PubMed: Duan 2023 patient - - China - - - - - 2 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Both (homozygous) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat2 PubMed: Duan 2023 patient - - China - - - - - 2 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Maternal (confirmed) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat4 PubMed: Duan 2023 patient - - China - - - - - 3 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Maternal (confirmed) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat6 PubMed: Duan 2023 patient - - China - - - - - 2 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Maternal (confirmed) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat8 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Maternal (confirmed) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat14 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Both (homozygous) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat15 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Maternal (confirmed) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat17 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Parent #1 ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat20 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Parent #1 ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat22 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Maternal (confirmed) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat23 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Maternal (confirmed) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat27 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Both (homozygous) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat28 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Paternal (confirmed) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat11 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Gln258Ter) Paternal (confirmed) ACMG pathogenic g.38001877G>A g.38144359G>A - - STAR_000017 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat16 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.791A>G r.(?) p.(Gln264Arg) Unknown - pathogenic g.38001858T>C g.38144340T>C - 46,XY STAR_000012 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat149 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.791A>G r.(?) p.(Gln264Arg) Unknown - likely pathogenic g.38001858T>C - - - STAR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.820C>T r.(?) p.(Arg274Cys) Unknown - VUS g.38001829G>A g.38144311G>A STAR(NM_000349.2):c.820C>T (p.R274C) - STAR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.838del r.(?) p.(Ala280ProfsTer41) Maternal (confirmed) ACMG pathogenic g.38001811del g.38144293del - - STAR_000025 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat26 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.*5285C>T r.(=) p.(=) Unknown - likely benign g.37996506G>A g.38138988G>A ASH2L(NM_001105214.2):c.1522G>A (p.(Val508Met)) - ASH2L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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