SEPT9, 38-KB DUP |
duplication |
Amyotrophy, hereditary neuralgic [RCV000006224] |
Chr17:17q25 |
pathogenic |
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000006221]|not provided [RCV000516514] |
Chr17:77402298 [GRCh38] Chr17:75398380 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000006222] |
Chr17:77402314 [GRCh38] Chr17:75398396 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_001113491.2(SEPTIN9):c.76+12996G>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000006223] |
Chr17:77320193 [GRCh38] Chr17:75316275 [GRCh37] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 |
copy number gain |
See cases [RCV000052486] |
Chr17:69209079..83086677 [GRCh38] Chr17:67205220..81044553 [GRCh37] Chr17:64716815..78637842 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh38/hg38 17q25.3(chr17:77320131-77564650)x3 |
copy number gain |
See cases [RCV000054047] |
Chr17:77320131..77564650 [GRCh38] Chr17:75316213..75560732 [GRCh37] Chr17:72827808..73072327 [NCBI36] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001002747] |
Chr17:77492700 [GRCh38] Chr17:75488782 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000144865] |
Chr17:77482288 [GRCh38] Chr17:75478370 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 |
copy number gain |
See cases [RCV000143342] |
Chr17:69916435..83102552 [GRCh38] Chr17:67912576..81048189 [GRCh37] Chr17:65424171..78653717 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro) |
indel |
not specified [RCV000517277] |
Chr17:77402335..77402336 [GRCh38] Chr17:75398417..75398418 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q25.3(chr17:75468978-75556850)x3 |
copy number gain |
See cases [RCV000240009] |
Chr17:75468978..75556850 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.26C>T (p.Thr9Met) |
single nucleotide variant |
not provided [RCV000487567] |
Chr17:77307147 [GRCh38] Chr17:75303229 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*789G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000285522] |
Chr17:77499447 [GRCh38] Chr17:75495529 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*709C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000269217] |
Chr17:77499367 [GRCh38] Chr17:75495449 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*45C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000290598] |
Chr17:77498703 [GRCh38] Chr17:75494785 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_001113491.2(SEPTIN9):c.1573+9C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000291977]|not provided [RCV000958437] |
Chr17:77493085 [GRCh38] Chr17:75489167 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000292928]|not specified [RCV000516239] |
Chr17:77490817 [GRCh38] Chr17:75486899 [GRCh37] Chr17:17q25.3 |
benign|likely benign|uncertain significance |
NM_001113491.2(SEPTIN9):c.*1847G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000259211] |
Chr17:77500505 [GRCh38] Chr17:75496587 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_001113491.2(SEPTIN9):c.*573C>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000277364] |
Chr17:77499231 [GRCh38] Chr17:75495313 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.442C>T (p.Arg148Trp) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000296085] |
Chr17:77402424 [GRCh38] Chr17:75398506 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.277G>T (p.Val93Leu) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000278337]|not provided [RCV000890282] |
Chr17:77402259 [GRCh38] Chr17:75398341 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*989T>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000296499] |
Chr17:77499647 [GRCh38] Chr17:75495729 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.76+12350G>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000299021] |
Chr17:77319547 [GRCh38] Chr17:75315629 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_001113491.2(SEPTIN9):c.*1896A>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000320227] |
Chr17:77500554 [GRCh38] Chr17:75496636 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000365616]|not provided [RCV000890177] |
Chr17:77402692 [GRCh38] Chr17:75398774 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*1639C>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000268507] |
Chr17:77500297 [GRCh38] Chr17:75496379 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_001113491.2(SEPTIN9):c.936C>T (p.Ser312=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000267879]|not specified [RCV000516450] |
Chr17:77487446 [GRCh38] Chr17:75483528 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.600C>T (p.Thr200=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000308581]|not provided [RCV000927318] |
Chr17:77402582 [GRCh38] Chr17:75398664 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.76+13013GAG[6] |
microsatellite |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000270435] |
Chr17:77320210..77320215 [GRCh38] Chr17:75316292..75316297 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*903C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000281150] |
Chr17:77499561 [GRCh38] Chr17:75495643 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*1233C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000366531] |
Chr17:77499891 [GRCh38] Chr17:75495973 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*479C>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000367229] |
Chr17:77499137 [GRCh38] Chr17:75495219 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.*417C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000392782] |
Chr17:77499075 [GRCh38] Chr17:75495157 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.76+12793G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000271750] |
Chr17:77319990 [GRCh38] Chr17:75316072 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.914-4C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000360208]|not provided [RCV000882621] |
Chr17:77487420 [GRCh38] Chr17:75483502 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*20dup |
duplication |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000270816] |
Chr17:77498673..77498674 [GRCh38] Chr17:75494755..75494756 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*1720T>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000323614] |
Chr17:77500378 [GRCh38] Chr17:75496460 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.76+12764G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000368739] |
Chr17:77319961 [GRCh38] Chr17:75316043 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.76+12730G>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000311820] |
Chr17:77319927 [GRCh38] Chr17:75316009 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*454G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000312451] |
Chr17:77499112 [GRCh38] Chr17:75495194 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.76+12824C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000362921] |
Chr17:77320021 [GRCh38] Chr17:75316103 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.1125-10C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000372283]|not provided [RCV000901166] |
Chr17:77488717 [GRCh38] Chr17:75484799 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000318320]|not provided [RCV000881824]|not specified [RCV000518080] |
Chr17:77402183 [GRCh38] Chr17:75398265 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.1043-4G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000319796]|not provided [RCV000884105] |
Chr17:77488236 [GRCh38] Chr17:75484318 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.76+12362T>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000370039] |
Chr17:77319559 [GRCh38] Chr17:75315641 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.1446G>A (p.Ser482=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000350151]|not provided [RCV000901277] |
Chr17:77492686 [GRCh38] Chr17:75488768 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.1125-5C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000280075] |
Chr17:77488722 [GRCh38] Chr17:75484804 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*764C>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000320635] |
Chr17:77499422 [GRCh38] Chr17:75495504 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1041C>T (p.His347=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000320560]|not provided [RCV000914533] |
Chr17:77487551 [GRCh38] Chr17:75483633 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.202G>A (p.Val68Met) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000375254] |
Chr17:77402184 [GRCh38] Chr17:75398266 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*1204A>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000307015] |
Chr17:77499862 [GRCh38] Chr17:75495944 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.912C>T (p.Val304=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000307855]|not provided [RCV000900460] |
Chr17:77482334 [GRCh38] Chr17:75478416 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*718C>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000328935] |
Chr17:77499376 [GRCh38] Chr17:75495458 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.76+12812C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000329275] |
Chr17:77320009 [GRCh38] Chr17:75316091 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*1900A>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000374825] |
Chr17:77500558 [GRCh38] Chr17:75496640 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*876C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000375639] |
Chr17:77499534 [GRCh38] Chr17:75495616 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.76+13049A>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000323208] |
Chr17:77320246 [GRCh38] Chr17:75316328 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*20C>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000325687] |
Chr17:77498678 [GRCh38] Chr17:75494760 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*14dup |
duplication |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000274288] |
Chr17:77498669..77498670 [GRCh38] Chr17:75494751..75494752 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*207G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000287067] |
Chr17:77498865 [GRCh38] Chr17:75494947 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*783A>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000379929] |
Chr17:77499441 [GRCh38] Chr17:75495523 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*9dup |
duplication |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000263832] |
Chr17:77498664..77498665 [GRCh38] Chr17:75494746..75494747 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1248C>T (p.Pro416=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000332522]|not provided [RCV000973219] |
Chr17:77488850 [GRCh38] Chr17:75484932 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.1477-9G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000383983]|not provided [RCV000893693] |
Chr17:77492971 [GRCh38] Chr17:75489053 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*40A>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000384864] |
Chr17:77498698 [GRCh38] Chr17:75494780 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.134G>A (p.Arg45Gln) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000380185] |
Chr17:77402116 [GRCh38] Chr17:75398198 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1320C>G (p.Val440=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000389410] |
Chr17:77490799 [GRCh38] Chr17:75486881 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*759A>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000265628] |
Chr17:77499417 [GRCh38] Chr17:75495499 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000406676]|not specified [RCV000518341] |
Chr17:77402416 [GRCh38] Chr17:75398498 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000406675]|Charcot-Marie-Tooth disease [RCV000857024]|Charcot-Marie-Tooth disease, type I [RCV000857025] |
Chr17:77402520 [GRCh38] Chr17:75398602 [GRCh37] Chr17:17q25.3 |
benign|uncertain significance |
NM_001113491.2(SEPTIN9):c.322A>G (p.Thr108Ala) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000335760] |
Chr17:77402304 [GRCh38] Chr17:75398386 [GRCh37] Chr17:17q25.3 |
benign|uncertain significance |
NM_001113491.2(SEPTIN9):c.*283C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000392806] |
Chr17:77498941 [GRCh38] Chr17:75495023 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*740C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000383487] |
Chr17:77499398 [GRCh38] Chr17:75495480 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1042G>A (p.Asp348Asn) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000359029] |
Chr17:77487552 [GRCh38] Chr17:75483634 [GRCh37] Chr17:17q25.3 |
benign|uncertain significance |
NM_001113491.2(SEPTIN9):c.*325T>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000297232] |
Chr17:77498983 [GRCh38] Chr17:75495065 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*260C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000342020] |
Chr17:77498918 [GRCh38] Chr17:75495000 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1726A>G (p.Met576Val) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000605206]|not specified [RCV000517002] |
Chr17:77498623 [GRCh38] Chr17:75494705 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1573+10G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000344456]|not provided [RCV000893723] |
Chr17:77493086 [GRCh38] Chr17:75489168 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*377T>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000338176] |
Chr17:77499035 [GRCh38] Chr17:75495117 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1042+10C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000262368]|not provided [RCV000957659] |
Chr17:77487562 [GRCh38] Chr17:75483644 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.519C>T (p.Pro173=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000348786] |
Chr17:77402501 [GRCh38] Chr17:75398583 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*1292G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000403893] |
Chr17:77499950 [GRCh38] Chr17:75496032 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.819G>A (p.Pro273=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000403960] |
Chr17:77482241 [GRCh38] Chr17:75478323 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_001113491.2(SEPTIN9):c.*6A>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000300249] |
Chr17:77498664 [GRCh38] Chr17:75494746 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*1463G>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000303702] |
Chr17:77500121 [GRCh38] Chr17:75496203 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*939A>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000350243] |
Chr17:77499597 [GRCh38] Chr17:75495679 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*955C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000406697] |
Chr17:77499613 [GRCh38] Chr17:75495695 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.76+12407G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000405799] |
Chr17:77319604 [GRCh38] Chr17:75315686 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000406238]|not provided [RCV000899582] |
Chr17:77498649 [GRCh38] Chr17:75494731 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*657T>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000363814] |
Chr17:77499315 [GRCh38] Chr17:75495397 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1584C>G (p.Thr528=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000304981] |
Chr17:77497325 [GRCh38] Chr17:75493407 [GRCh37] Chr17:17q25.3 |
benign|uncertain significance |
NM_001113491.2(SEPTIN9):c.*1035G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000351367] |
Chr17:77499693 [GRCh38] Chr17:75495775 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1574-10C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000408064]|not provided [RCV000958232]|not specified [RCV001287943] |
Chr17:77497305 [GRCh38] Chr17:75493387 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.*5dup |
duplication |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000303867] |
Chr17:77498661..77498662 [GRCh38] Chr17:75494743..75494744 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*867G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000317152] |
Chr17:77499525 [GRCh38] Chr17:75495607 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.158G>A (p.Arg53Gln) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000283466] |
Chr17:77402140 [GRCh38] Chr17:75398222 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.76+12311C>T |
single nucleotide variant |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000347708] |
Chr17:77319508 [GRCh38] Chr17:75315590 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.*11dup |
duplication |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000368972] |
Chr17:77498668..77498669 [GRCh38] Chr17:75494750..75494751 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1724G>A (p.Gly575Asp) |
single nucleotide variant |
not specified [RCV000521955] |
Chr17:77498621 [GRCh38] Chr17:75494703 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*1724G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000355153] |
Chr17:77500382 [GRCh38] Chr17:75496464 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*5_*6insG |
insertion |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000356367] |
Chr17:77498663..77498664 [GRCh38] Chr17:75494745..75494746 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*1130_*1131insAAG |
insertion |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000393139] |
Chr17:77499786..77499787 [GRCh38] Chr17:75495868..75495869 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*55dup |
duplication |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000340911] |
Chr17:77498705..77498706 [GRCh38] Chr17:75494787..75494788 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*1570dup |
duplication |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000358451] |
Chr17:77500226..77500227 [GRCh38] Chr17:75496308..75496309 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.*54_*55dup |
duplication |
Hereditary Neuralgic Amyotrophy (HNA) [RCV000376645] |
Chr17:77498705..77498706 [GRCh38] Chr17:75494787..75494788 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.721+2405G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000615412] |
Chr17:77405108 [GRCh38] Chr17:75401190 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*586A>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000313756] |
Chr17:77499244 [GRCh38] Chr17:75495326 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.76+19T>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000603950] |
Chr17:77307216 [GRCh38] Chr17:75303298 [GRCh37] Chr17:17q25.3 |
benign |
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 |
copy number gain |
See cases [RCV000447539] |
Chr17:73951701..81041938 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 |
copy number gain |
See cases [RCV000447577] |
Chr17:64241326..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 |
copy number gain |
See cases [RCV000447823] |
Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
GRCh37/hg19 17q25.2-25.3(chr17:75104943-75602123)x3 |
copy number gain |
See cases [RCV000510636] |
Chr17:75104943..75602123 [GRCh37] Chr17:17q25.2-25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.563_564del (p.Val188fs) |
deletion |
not specified [RCV000499000] |
Chr17:77402544..77402545 [GRCh38] Chr17:75398626..75398627 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1081A>G (p.Ile361Val) |
single nucleotide variant |
not specified [RCV000497625] |
Chr17:77488278 [GRCh38] Chr17:75484360 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q25.3(chr17:75447984-75563387)x3 |
copy number gain |
See cases [RCV000511440] |
Chr17:75447984..75563387 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 |
copy number gain |
See cases [RCV000510919] |
Chr17:73951701..81041938 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_001113491.2(SEPTIN9):c.77-28563T>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV000608434] |
Chr17:77373496 [GRCh38] Chr17:75369578 [GRCh37] Chr17:17q25.3 |
benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 |
copy number gain |
See cases [RCV000512573] |
Chr17:67002415..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 |
copy number gain |
not provided [RCV000683952] |
Chr17:63689671..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
t(11;17)(q23;q25) |
translocation |
Acute megakaryoblastic leukemia [RCV000721127] |
Chr11:118482092..118482093 [GRCh38] Chr17:77402059..77402060 [GRCh38] Chr11:11q23.3 Chr17:17q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_001113491.2(SEPTIN9):c.148C>G (p.Pro50Ala) |
single nucleotide variant |
not provided [RCV000977736] |
Chr17:77402130 [GRCh38] Chr17:75398212 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1161C>T (p.Tyr387=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001123904]|not provided [RCV000916573] |
Chr17:77488763 [GRCh38] Chr17:75484845 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1 |
copy number loss |
not provided [RCV001006920] |
Chr17:74509193..75602123 [GRCh37] Chr17:17q25.1-25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857023] |
Chr17:77402198 [GRCh38] Chr17:75398280 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.722-6423del |
deletion |
Sodium channelopathy-related small fiber neuropathy [RCV000857030] |
Chr17:77475718 [GRCh38] Chr17:75471800 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.722-6334T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857031] |
Chr17:77475810 [GRCh38] Chr17:75471892 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.722-6324del |
deletion |
Charcot-Marie-Tooth disease [RCV000857032] |
Chr17:77475820 [GRCh38] Chr17:75471902 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT |
indel |
Charcot-Marie-Tooth disease [RCV000857035] |
Chr17:77482397..77482399 [GRCh38] Chr17:75478479..75478481 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1423C>A (p.Gln475Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857036] |
Chr17:77492663 [GRCh38] Chr17:75488745 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.722-6624T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 4 [RCV000857028] |
Chr17:77475520 [GRCh38] Chr17:75471602 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.722-6589G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857029] |
Chr17:77475555 [GRCh38] Chr17:75471637 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1098C>T (p.Phe366=) |
single nucleotide variant |
not provided [RCV000902942] |
Chr17:77488295 [GRCh38] Chr17:75484377 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.216A>G (p.Glu72=) |
single nucleotide variant |
not provided [RCV000996609] |
Chr17:77402198 [GRCh38] Chr17:75398280 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1407C>T (p.Gly469=) |
single nucleotide variant |
not provided [RCV000996610] |
Chr17:77492647 [GRCh38] Chr17:75488729 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.687C>T (p.Pro229=) |
single nucleotide variant |
not provided [RCV000933129] |
Chr17:77402669 [GRCh38] Chr17:75398751 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857038] |
Chr17:77492983 [GRCh38] Chr17:75489065 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.132C>G (p.Pro44=) |
single nucleotide variant |
not provided [RCV000937802] |
Chr17:77402114 [GRCh38] Chr17:75398196 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.1473C>T (p.Phe491=) |
single nucleotide variant |
not provided [RCV000923858] |
Chr17:77492713 [GRCh38] Chr17:75488795 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.1116C>T (p.Asn372=) |
single nucleotide variant |
not provided [RCV000925481] |
Chr17:77488313 [GRCh38] Chr17:75484395 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.579C>G (p.Pro193=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001128525]|not provided [RCV000892326] |
Chr17:77402561 [GRCh38] Chr17:75398643 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.345G>A (p.Ser115=) |
single nucleotide variant |
not provided [RCV000902134] |
Chr17:77402327 [GRCh38] Chr17:75398409 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.1723G>A (p.Gly575Ser) |
single nucleotide variant |
not provided [RCV000942927] |
Chr17:77498620 [GRCh38] Chr17:75494702 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.1317C>T (p.Ile439=) |
single nucleotide variant |
not provided [RCV000897327] |
Chr17:77490796 [GRCh38] Chr17:75486878 [GRCh37] Chr17:17q25.3 |
likely benign |
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 |
copy number gain |
not provided [RCV001006919] |
Chr17:73261871..78608763 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_001113491.2(SEPTIN9):c.760G>A (p.Asp254Asn) |
single nucleotide variant |
not provided [RCV001090255] |
Chr17:77482182 [GRCh38] Chr17:75478264 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 |
copy number gain |
not provided [RCV000849900] |
Chr17:62778720..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857026] |
Chr17:77402596 [GRCh38] Chr17:75398678 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*56A>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001122935] |
Chr17:77498714 [GRCh38] Chr17:75494796 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*911C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001123036] |
Chr17:77499569 [GRCh38] Chr17:75495651 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.76+12954C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126463] |
Chr17:77320151 [GRCh38] Chr17:75316233 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*578G>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126672] |
Chr17:77499236 [GRCh38] Chr17:75495318 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*1253T>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126768] |
Chr17:77499911 [GRCh38] Chr17:75495993 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*1548C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126770] |
Chr17:77500206 [GRCh38] Chr17:75496288 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.722-7T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857033] |
Chr17:77482137 [GRCh38] Chr17:75478219 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1476+2T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857037] |
Chr17:77492718 [GRCh38] Chr17:75488800 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857039] |
Chr17:77498604 [GRCh38] Chr17:75494686 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.19+4829C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857022] |
Chr17:77286383 [GRCh38] Chr17:75282465 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857027] |
Chr17:77402619 [GRCh38] Chr17:75398701 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857034] |
Chr17:77482173 [GRCh38] Chr17:75478255 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857040] |
Chr17:77498648 [GRCh38] Chr17:75494730 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1398G>A (p.Leu466=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126564]|not provided [RCV000915184] |
Chr17:77492638 [GRCh38] Chr17:75488720 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_001113491.2(SEPTIN9):c.268C>T (p.Leu90=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001128524]|not provided [RCV000885513] |
Chr17:77402250 [GRCh38] Chr17:75398332 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.141C>G (p.Val47=) |
single nucleotide variant |
not provided [RCV000882100] |
Chr17:77402123 [GRCh38] Chr17:75398205 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.619A>G (p.Thr207Ala) |
single nucleotide variant |
not provided [RCV000910308] |
Chr17:77402601 [GRCh38] Chr17:75398683 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.1464C>T (p.Asn488=) |
single nucleotide variant |
not provided [RCV000907525] |
Chr17:77492704 [GRCh38] Chr17:75488786 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.99C>T (p.Val33=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126464]|not provided [RCV000910521] |
Chr17:77402081 [GRCh38] Chr17:75398163 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1386C>T (p.Thr462=) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126563] |
Chr17:77492626 [GRCh38] Chr17:75488708 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*628G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126673] |
Chr17:77499286 [GRCh38] Chr17:75495368 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*1124C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126767] |
Chr17:77499782 [GRCh38] Chr17:75495864 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*1314C>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126769] |
Chr17:77499972 [GRCh38] Chr17:75496054 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.76+12321C>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001122726] |
Chr17:77319518 [GRCh38] Chr17:75315600 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.76+12716G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001123817] |
Chr17:77319913 [GRCh38] Chr17:75315995 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*372C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001123999] |
Chr17:77499030 [GRCh38] Chr17:75495112 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*373G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001124000] |
Chr17:77499031 [GRCh38] Chr17:75495113 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*1012G>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001124105] |
Chr17:77499670 [GRCh38] Chr17:75495752 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1313A>G (p.Asn438Ser) |
single nucleotide variant |
See cases [RCV001196286] |
Chr17:77490792 [GRCh38] Chr17:75486874 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1063C>T (p.Arg355Trp) |
single nucleotide variant |
not provided [RCV000933682] |
Chr17:77488260 [GRCh38] Chr17:75484342 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*2C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001122933] |
Chr17:77498660 [GRCh38] Chr17:75494742 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1465G>A (p.Glu489Lys) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126565] |
Chr17:77492705 [GRCh38] Chr17:75488787 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*647G>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001127065] |
Chr17:77499305 [GRCh38] Chr17:75495387 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*732G>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001127066] |
Chr17:77499390 [GRCh38] Chr17:75495472 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*1675C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001127181] |
Chr17:77500333 [GRCh38] Chr17:75496415 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*647G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126674] |
Chr17:77499305 [GRCh38] Chr17:75495387 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.907G>A (p.Val303Met) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001122816] |
Chr17:77482329 [GRCh38] Chr17:75478411 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*15A>C |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001122934] |
Chr17:77498673 [GRCh38] Chr17:75494755 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.*904G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001123035] |
Chr17:77499562 [GRCh38] Chr17:75495644 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.802C>T (p.Arg268Trp) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001122815] |
Chr17:77482224 [GRCh38] Chr17:75478306 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.*1832A>G |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001123113] |
Chr17:77500490 [GRCh38] Chr17:75496572 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.146C>A (p.Thr49Asn) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001126465] |
Chr17:77402128 [GRCh38] Chr17:75398210 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001113491.2(SEPTIN9):c.*959G>A |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001124104] |
Chr17:77499617 [GRCh38] Chr17:75495699 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1699G>A (p.Glu567Lys) |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001128626] |
Chr17:77498596 [GRCh38] Chr17:75494678 [GRCh37] Chr17:17q25.3 |
benign |
NM_001113491.2(SEPTIN9):c.1124+8C>T |
single nucleotide variant |
Amyotrophy, hereditary neuralgic [RCV001123903] |
Chr17:77488329 [GRCh38] Chr17:75484411 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001113491.2(SEPTIN9):c.1219C>T (p.Arg407Cys) |
single nucleotide variant |
not provided [RCV001256031] |
Chr17:77488821 [GRCh38] Chr17:75484903 [GRCh37] Chr17:17q25.3 |
uncertain significance |