Unique variants in the SEPT9 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_006640.4 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
-/. 2 - c.-38798A>C r.(?), r.(=) p.(=) - benign g.75277611A>C g.77281529A>C SEPTIN9(NM_001113491.2):c.-7A>C - SEPT9_000019 VKGL data sharing initiative Nederland - - rs8070026 CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Andreas Laner
?/. 1 - c.-38771del r.(?) p.(=) - VUS g.75277638del g.77281556del SEPT9(NM_001113491.1):c.19+2delT - SEPT9_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-38431T>A r.(?) p.(=) - benign g.75277978T>A g.77281896T>A SEPTIN9(NM_001113491.2):c.19+342T>A - SEPT9_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.-32229C>T r.(=) p.(=) - VUS g.75284180C>T g.77288098C>T - - SEPT9_000001 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.-13307G>A r.(?) p.(=) - benign g.75303102G>A g.77307020G>A SEPT9(NM_001113492.1):c.-473-121G>A - SEPT9_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.-13148G>T r.(?) p.(=) - VUS g.75303261G>T g.77307179G>T SEPTIN9(NM_001113491.2):c.58G>T (p.G20C) - SEPT9_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.-13111T>C r.(?) p.(=) - benign g.75303298T>C g.77307216T>C SEPT9(NM_001113492.1):c.-417+19T>C, SEPTIN9(NM_001113491.2):c.76+19T>C - SEPT9_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.-12907G>A r.(?) p.(=) - benign g.75303502G>A g.77307420G>A SEPT9(NM_001113492.1):c.-417+223G>A - SEPT9_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.-851C>T r.(=) p.(=) - VUS g.75315558C>T g.77319476C>T - - SEPT9_000002 - - - - Germline - - - - - Andreas Laner
+/. 1 - c.-134G>C r.(?) p.(=) - pathogenic g.75316275G>C g.77320193G>C SEPT9(NM_006640.4):c.-134G>C - SEPT9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-20_-16dup r.(?) p.(=) - likely benign g.75316389_75316393dup - SEPTIN9(NM_006640.4):c.-20_-16dupTGCTA - SEPT9_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.22+20C>T r.(=) p.(=) - likely benign g.75316450C>T g.77320368C>T SEPT9(NM_006640.4):c.22+20C>T - SEPT9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.23-28563T>C r.(=) p.(=) - benign g.75369578T>C g.77373496T>C SEPT9(NM_001113493.1):c.-2T>C, SEPTIN9(NM_001113493.2):c.-2T>C - SEPT9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 - c.23-28440C>T r.(=) p.(=) - VUS g.75369701C>T g.77373619C>T - - SEPT9_000003 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.23-26011del r.(=) p.(=) - benign g.75372130del g.77376048del - - SEPT9_000004 - - - rs76223580 Germline - - - - - Andreas Laner
-/. 1 - c.23-25802C>T r.(=) p.(=) - benign g.75372339C>T g.77376257C>T SEPT9(NM_001113494.1):c.-558C>T - SEPT9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.23-25694G>A r.(=) p.(=) - benign g.75372447G>A g.77376365G>A - - SEPT9_000005 - - - rs140282527 Germline - - - - - Andreas Laner
?/. 1 - c.99A>G r.(=) p.(=) - VUS g.75398217A>G g.77402135A>G - - SEPT9_000017 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.147C>T r.(?) p.(Gly49=) - benign g.75398265C>T g.77402183C>T SEPTIN9(NM_006640.4):c.147C>T (p.G49=) - SEPT9_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.169G>T r.(?) p.(Ala57Ser) - VUS g.75398287G>T g.77402205G>T SEPT9(NM_006640.4):c.169G>T (p.A57S) - SEPT9_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 3 - c.262C>T r.(?) p.(Arg88Trp) - pathogenic g.75398380C>T g.77402298C>T SEPT9(NM_006640.4):c.262C>T (p.R88W) - SEPT9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, Andreas Laner
+/. 1 - c.278C>T r.(?) p.(Ser93Phe) - pathogenic g.75398396C>T g.77402314C>T SEPT9(NM_006640.4):c.278C>T (p.S93F) - SEPT9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.293C>T r.(?) p.(Ser98Phe) - VUS g.75398411C>T g.77402329C>T SEPT9(NM_006640.4):c.293C>T (p.S98F) - SEPT9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.299A>C r.(?) p.(Gln100Pro) - VUS g.75398417A>C g.77402335A>C SEPT9(NM_006640.4):c.299A>C (p.Q100P) - SEPT9_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 - c.299_300delinsCC r.(?) p.(Gln100Pro) - likely pathogenic (dominant) g.75398417_75398418delinsCC g.77402335_77402336delinsCC - - SEPT9_000086 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.300G>C r.(?) p.(Gln100His) - VUS g.75398418G>C g.77402336G>C SEPT9(NM_006640.4):c.300G>C (p.Q100H) - SEPT9_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.380C>T r.(?) p.(Pro127Leu) - benign g.75398498C>T g.77402416C>T SEPT9(NM_006640.4):c.380C>T (p.P127L) - SEPT9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.406A>G r.(?) p.(Ile136Val) - VUS g.75398524A>G g.77402442A>G SEPT9(NM_006640.4):c.406A>G (p.I136V) - SEPT9_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.460G>A r.(?) p.(Val154Ile) - likely benign g.75398578G>A g.77402496G>A SEPT9(NM_006640.4):c.460G>A (p.V154I) - SEPT9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.546C>T r.(=) p.(=) - VUS g.75398664C>T g.77402582C>T - - SEPT9_000013 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.656G>A r.(?) p.(Arg219Gln) - likely benign g.75398774G>A g.77402692G>A SEPT9(NM_006640.4):c.656G>A (p.R219Q) - SEPT9_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.667+2405G>A r.(=) p.(=) - benign g.75401190G>A g.77405108G>A SEPT9(NM_006640.4):c.667+2405G>A, SEPTIN9(NM_001293696.2):c.17G>A (p.C6Y) - SEPT9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.667+2406C>T r.(=) p.(=) - benign g.75401191C>T g.77405109C>T SEPTIN9(NM_001293696.2):c.18C>T (p.C6=) - SEPT9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.667+2414C>A r.(=) p.(=) - VUS g.75401199C>A g.77405117C>A SEPTIN9(NM_001293696.2):c.26C>A (p.T9K) - SEPT9_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.668-6464G>A r.(=) p.(=) - benign g.75471762G>A g.77475680G>A SEPTIN9(NM_001113495.1):c.162G>A (p.T54=) - SEPT9_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.668-6458C>T r.(=) p.(=) - likely benign g.75471768C>T g.77475686C>T SEPTIN9(NM_001113495.1):c.168C>T (p.G56=) - SEPT9_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.859+64C>T r.(=) p.(=) - benign g.75478481C>T g.77482399C>T SEPT9(NM_006640.4):c.859+64C>T - SEPT9_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.859+277T>C r.(=) p.(=) - benign g.75478694T>C g.77482612T>C SEPT9(NM_006640.4):c.859+277T>C - SEPT9_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.860-4C>T r.spl? p.? - likely benign g.75483502C>T g.77487420C>T SEPT9(NM_006640.4):c.860-4C>T - SEPT9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
-/. 1 - c.882C>T r.(?) p.(Ser294=) - benign g.75483528C>T g.77487446C>T SEPTIN9(NM_006640.4):c.882C>T (p.S294=) - SEPT9_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.920G>A r.(?) p.(Arg307Gln) - VUS g.75483566G>A g.77487484G>A SEPT9(NM_006640.4):c.920G>A (p.R307Q) - SEPT9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.988+10C>T r.(=) p.(=) - benign g.75483644C>T g.77487562C>T SEPT9(NM_006640.4):c.988+10C>T - SEPT9_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.989-321G>A r.(=) p.(=) - benign g.75484001G>A g.77487919G>A SEPT9(NM_006640.4):c.989-321G>A - SEPT9_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.989-249T>C r.(=) p.(=) - benign g.75484073T>C g.77487991T>C SEPT9(NM_006640.4):c.989-249T>C - SEPT9_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.989-166C>T r.(=) p.(=) - benign g.75484156C>T g.77488074C>T SEPT9(NM_006640.4):c.989-166C>T - SEPT9_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.989-119del r.(=) p.(=) - benign g.75484203del g.77488121del SEPTIN9(NM_006640.4):c.989-119delC - SEPT9_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.989-18G>T r.(=) p.(=) - likely benign g.75484304G>T g.77488222G>T SEPT9(NM_006640.4):c.989-18G>T - SEPT9_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1010G>A r.(?) p.(Arg337Gln) - VUS g.75484343G>A g.77488261G>A SEPT9(NM_006640.4):c.1010G>A (p.R337Q) - SEPT9_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1071-109A>G r.(=) p.(=) - benign g.75484700A>G g.77488618A>G SEPT9(NM_006640.4):c.1071-109A>G - SEPT9_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1071-28T>C r.(=) p.(=) - benign g.75484781T>C g.77488699T>C SEPT9(NM_006640.4):c.1071-28T>C - SEPT9_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.1071-5C>T r.spl? p.? - benign, likely benign g.75484804C>T g.77488722C>T SEPT9(NM_006640.4):c.1071-5C>T - SEPT9_000033 VKGL data sharing initiative Nederland, 8 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs73377525 CLASSIFICATION record, Germline - 8/2795 individuals, 240/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.1097A>G r.(?) p.(Asn366Ser) - VUS g.75484835A>G g.77488753A>G - - SEPT9_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1194C>T r.(?) p.(Pro398=) - likely benign g.75484932C>T g.77488850C>T SEPT9(NM_006640.4):c.1194C>T (p.P398=) - SEPT9_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1208+68A>C r.(=) p.(=) - benign g.75485014A>C g.77488932A>C SEPT9(NM_006640.4):c.1208+68A>C - SEPT9_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1208+192del r.(=) p.(=) - benign g.75485138del g.77489056del SEPTIN9(NM_006640.4):c.1208+192delA - SEPT9_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1209-143C>T r.(=) p.(=) - benign g.75486681C>T g.77490599C>T SEPT9(NM_006640.4):c.1209-143C>T - SEPT9_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1209-57_1209-56insC r.(=) p.(=) - VUS g.75486767_75486768insC g.77490685_77490686insC - - SEPT9_000014 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.1326+261G>C r.(=) p.(=) - benign g.75487202G>C g.77491120G>C SEPT9(NM_006640.4):c.1326+261G>C - SEPT9_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1344G>A r.(?) p.(Leu448=) - likely benign g.75488720G>A g.77492638G>A SEPTIN9(NM_006640.4):c.1344G>A (p.L448=) - SEPT9_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1391C>T r.(?) p.Ser464Leu ACMG VUS g.75488767C>T g.77492685C>T - - SEPT9_000043 patient has a likely pathogenic variant in MYOT - - rs780672539 Germline - - - - - Andreas Laner
?/. 1 - c.1406T>C r.(?) p.(Val469Ala) - VUS g.75488782T>C g.77492700T>C SEPT9(NM_006640.4):c.1406T>C (p.V469A) - SEPT9_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1423-89C>T r.(=) p.(=) - benign g.75488973C>T g.77492891C>T SEPT9(NM_006640.4):c.1423-89C>T - SEPT9_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1423-47T>C r.(=) p.(=) - benign g.75489015T>C g.77492933T>C SEPT9(NM_006640.4):c.1423-47T>C - SEPT9_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.1519+2T>A r.spl? p.? - likely pathogenic g.75489160T>A g.77493078T>A SEPT9(NM_006640.4):c.1519+2T>A - SEPT9_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 3 - c.1519+9C>T r.(=) p.(=) - benign, likely benign g.75489167C>T g.77493085C>T SEPT9(NM_006640.4):c.1519+9C>T - SEPT9_000015 VKGL data sharing initiative Nederland - - rs148975193 CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht, Andreas Laner
-/. 1 - c.1519+58C>T r.(=) p.(=) - benign g.75489216C>T g.77493134C>T SEPT9(NM_006640.4):c.1519+58C>T - SEPT9_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1519+86A>G r.(=) p.(=) - benign g.75489244A>G g.77493162A>G SEPT9(NM_006640.4):c.1519+86A>G - SEPT9_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.1519+125dup r.(=) p.(=) - benign g.75489283dup g.77493201dup SEPTIN9(NM_006640.4):c.1519+125dupA - SEPT9_000016 VKGL data sharing initiative Nederland - - rs112645788 CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Andreas Laner
-?/., -/. 3 - c.1520-10C>T r.(=) p.(=) - likely benign, benign g.75493387C>T g.77497305C>T SEPT9(NM_006640.4):c.1520-10C>T - SEPT9_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Utrecht
-?/. 1 - c.1571+10_1571+11del r.(=) p.(=) - likely benign g.75493458_75493459del g.77497376_77497377del SEPT9(NM_006640.4):c.1571+10_1571+11delAG - SEPT9_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1637G>A r.(?) p.(Arg546His) - VUS g.75494670G>A g.77498588G>A SEPT9(NM_006640.4):c.1637G>A (p.R546H) - SEPT9_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1672A>G r.(?) p.(Met558Val) - benign g.75494705A>G g.77498623A>G SEPT9(NM_006640.4):c.1672A>G (p.M558V) - SEPT9_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/., -?/. 3 - c.1698G>A r.(?) p.(Pro566=) - benign, likely benign g.75494731G>A g.77498649G>A SEPT9(NM_006640.4):c.1698G>A (p.P566=), SEPTIN9(NM_006640.4):c.1698G>A (p.P566=) - SEPT9_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.*6A>G r.(=) p.(=) - benign g.75494746A>G g.77498664A>G SEPT9(NM_006640.4):c.*6A>G - SEPT9_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.*40A>T r.(=) p.(=) - benign g.75494780A>T g.77498698A>T SEPT9(NM_006640.4):c.*40A>T - SEPT9_000010 VKGL data sharing initiative Nederland - - rs11537705 CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Andreas Laner
-/. 3 - c.*55dup r.(?), r.(=) p.(=) - benign g.75494795dup g.77498713dup SEPTIN9(NM_006640.4):c.*55dupC - SEPT9_000011 VKGL data sharing initiative Nederland - - rs5822173 CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Andreas Laner
-/. 2 - c.*325T>C r.(=) p.(=) - benign g.75495065T>C g.77498983T>C SEPT9(NM_006640.4):c.*325T>C - SEPT9_000012 VKGL data sharing initiative Nederland - - rs448203 CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Andreas Laner
-/. 1 - c.*657T>C r.(=) p.(=) - benign g.75495397T>C g.77499315T>C SEPT9(NM_006640.4):c.*657T>C - SEPT9_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.*783A>G r.(=) p.(=) - benign g.75495523A>G g.77499441A>G - - SEPT9_000006 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.*789G>A r.(=) p.(=) - VUS g.75495529G>A g.77499447G>A - - SEPT9_000007 - - - - Germline - - - - - Andreas Laner
-/. 2 - c.*1035G>A r.(=) p.(=) - benign g.75495775G>A g.77499693G>A - - SEPT9_000085 3 homozygous; Clinindb (India), 190 heterozygous; Clinindb (India) Faruq 2020, submtted - rs368116 Germline - 3/2792 individuals, 190/2792 individuals - - - Mohammed Faruq
-/. 1 - c.*1100= r.(=) p.(=) - benign g.75495840T>C g.77499758T>C SEPT9(NM_006640.4):c.*1100T>C - SEPT9_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.*1602= r.(=) p.(=) - benign g.75496342T>C g.77500260T>C SEPT9(NM_006640.4):c.*1602T>C - SEPT9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.*1602T>C r.(=) p.(=) - benign g.75496342T>C g.77500260T>C - - SEPT9_000008 1 more item - - rs448767 Germline - - - - - Andreas Laner
-/. 1 - c.*1621= r.(=) p.(=) - benign g.75496361A>G g.77500279A>G SEPT9(NM_006640.4):c.*1621A>G - SEPT9_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.*1720T>C r.(=) p.(=) - benign g.75496460T>C g.77500378T>C SEPT9(NM_006640.4):c.*1720T>C - SEPT9_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*1900A>G r.(=) p.(=) - VUS g.75496640A>G g.77500558A>G - - SEPT9_000009 - - - - Germline - - - - - Andreas Laner
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