Unique variants in the KCNT1 gene

Information The variants shown are described using the NM_020822.2 transcript reference sequence.

226 entries on 3 pages. Showing entries 1 - 100.
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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     
?/. 1 - c.-3857G>A r.(?) p.(=) - VUS g.138590248G>A - SOHLH1(NM_001012415.2):c.272C>T (p.A91V) - KCNT1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-3125G>A r.(?) p.(=) - VUS g.138590980G>A g.135699134G>A SOHLH1(NM_001012415.2):c.66-8C>T (p.(=)) - KCNT1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-2792T>C r.(?) p.(=) - VUS g.138591313T>C g.135699467T>C SOHLH1(NM_001012415.2):c.1A>G (p.(Met1?)) - KCNT1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.30G>A r.(?) p.(Pro10=) - benign g.138594134G>A g.135702288G>A KCNT1(NM_020822.2):c.30G>A (p.P10=) - KCNT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.58G>A r.(?) p.(Gly20Arg) - likely benign g.138594162G>A g.135702316G>A KCNT1(NM_001272003.1):c.58G>A (p.(Gly20Arg)) - KCNT1_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.59G>C r.(?) p.(Gly20Ala) - likely benign g.138594163G>C g.135702317G>C KCNT1(NM_020822.2):c.59G>C (p.G20A) - KCNT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.73C>T r.(?) p.(Arg25Trp) - VUS g.138594177C>T g.135702331C>T KCNT1(NM_001272003.1):c.73C>T (p.(Arg25Trp)) - KCNT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.99A>G r.(?) p.(Gln33=) - likely benign g.138594203A>G g.135702357A>G KCNT1(NM_020822.2):c.99A>G (p.Q33=) - KCNT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.110+38C>T r.(=) p.(=) - likely benign g.138594252C>T g.135702406C>T KCNT1(NM_020822.2):c.110+38C>T - KCNT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.110+77C>T r.(=) p.(=) - benign g.138594291C>T g.135702445C>T KCNT1(NM_020822.2):c.110+77C>T - KCNT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 2 - c.116C>T r.(?) p.(Pro39Leu) - likely benign, VUS g.138606428C>T g.135714582C>T KCNT1(NM_020822.2):c.116C>T (p.(Pro39Leu), p.P39L) - KCNT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 2 - c.130G>T r.(?) p.(Gly44Cys) - likely benign g.138606442G>T g.135714596G>T KCNT1(NM_020822.2):c.130G>T (p.(Gly44Cys), p.G44C) - KCNT1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.134C>T r.(?) p.(Ala45Val) - likely benign g.138606446C>T g.135714600C>T KCNT1(NM_020822.2):c.134C>T (p.A45V) - KCNT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.254+18_254+19dup r.(=) p.(=) - benign g.138606584_138606585dup g.135714738_135714739dup KCNT1(NM_020822.2):c.254+19_254+20dupGG - KCNT1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.254+20delinsGGC r.(=) p.(=) - likely benign g.138606586delinsGGC g.135714740delinsGGC KCNT1(NM_020822.2):c.254+20_254+21delTGinsGGCG - KCNT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.254+20T>C r.(=) p.(=) - benign g.138606586T>C g.135714740T>C KCNT1(NM_020822.2):c.254+20T>C - KCNT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.254+20T>G r.(=) p.(=) - benign g.138606586T>G g.135714740T>G KCNT1(NM_020822.2):c.254+20T>G - KCNT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.254+21_254+22insCG r.(=) p.(=) - likely benign g.138606587_138606588insCG g.135714741_135714742insCG KCNT1(NM_020822.2):c.254+20_254+21insGC - KCNT1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.255-7217del r.(=) p.(=) - likely benign g.138634727del g.135742881del KCNT1(NM_020822.2):c.255-7217delT - KCNT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.279C>T r.(?) p.(Asn93=) - likely benign g.138641968C>T g.135750122C>T KCNT1(NM_020822.2):c.279C>T (p.N93=) - KCNT1_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.318C>A r.(?) p.(Ile106=) - likely benign g.138642007C>A g.135750161C>A KCNT1(NM_020822.2):c.318C>A (p.I106=) - KCNT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.333G>A r.(?) p.(Ser111=) - likely benign g.138642022G>A g.135750176G>A KCNT1(NM_020822.2):c.333G>A (p.S111=) - KCNT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/., ?/. 2 - c.335-5C>T r.spl? p.? - likely benign, VUS g.138642783C>T g.135750937C>T KCNT1(NM_001272003.1):c.191-5C>T (p.?), KCNT1(NM_020822.2):c.335-5C>T - KCNT1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ./. 3 - c.335-4G>A r.spl? p.? - likely benign, VUS g.138642784G>A g.135750938G>A KCNT1(NM_020822.2):c.335-4G>A - KCNT1_000001 VKGL data sharing initiative Nederland PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs372339395 CLASSIFICATION record, Germline - 2/567 controls - - - VKGL-NL_Rotterdam, Dheeraj Bobbili
?/. 1 - c.335-3C>G r.spl? p.? - VUS g.138642785C>G g.135750939C>G KCNT1(NM_001272003.2):c.191-3C>G - KCNT1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.418G>A r.(?) p.(Ala140Thr) - likely benign g.138642871G>A g.135751025G>A KCNT1(NM_020822.2):c.418G>A (p.A140T) - KCNT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.434+10G>A r.(=) p.(=) - likely benign g.138642897G>A g.135751051G>A KCNT1(NM_020822.2):c.434+10G>A - KCNT1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.434+1264G>A r.(=) p.(=) - likely benign g.138644151G>A g.135752305G>A KCNT1(NM_020822.2):c.434+1264G>A - KCNT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.435-1370C>T r.(=) p.(=) - benign g.138644413C>T g.135752567C>T KCNT1(NM_020822.2):c.435-1370C>T - KCNT1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.435-87C>T r.(=) p.(=) - benign g.138645696C>T g.135753850C>T KCNT1(NM_020822.2):c.435-87C>T - KCNT1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.435-17G>A r.(=) p.(=) - benign, likely benign g.138645766G>A g.135753920G>A KCNT1(NM_020822.2):c.435-17G>A - KCNT1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.474G>A r.(?) p.(Ser158=) - likely benign g.138645822G>A g.135753976G>A KCNT1(NM_020822.2):c.474G>A (p.S158=) - KCNT1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.492-117A>G r.(=) p.(=) - likely benign g.138646850A>G g.135755004A>G KCNT1(NM_020822.2):c.492-117A>G - KCNT1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 4 - c.522G>A r.(?) p.(Met174Ile) - likely benign, VUS g.138646997G>A g.135755151G>A KCNT1(NM_001272003.1):c.378G>A (p.(Met126Ile)), KCNT1(NM_020822.2):c.522G>A (p.M174I) - KCNT1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-/. 1 - c.540+13C>T r.(=) p.(=) - benign g.138647028C>T g.135755182C>T KCNT1(NM_020822.2):c.540+13C>T - KCNT1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.540+22C>G r.(=) p.(=) - likely benign g.138647037C>G g.135755191C>G KCNT1(NM_020822.2):c.540+22C>G - KCNT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.540+202C>T r.(=) p.(=) - likely benign g.138647217C>T g.135755371C>T KCNT1(NM_020822.2):c.540+202C>T - KCNT1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.541-187C>T r.(=) p.(=) - likely benign g.138648532C>T g.135756686C>T KCNT1(NM_020822.2):c.541-187C>T - KCNT1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.541-109C>G r.(=) p.(=) - likely benign g.138648610C>G g.135756764C>G KCNT1(NM_020822.2):c.541-109C>G - KCNT1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.601-37T>C r.(=) p.(=) - likely benign g.138648965T>C g.135757119T>C KCNT1(NM_020822.2):c.601-37T>C - KCNT1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.601-13C>G r.(=) p.(=) - likely benign g.138648989C>G g.135757143C>G KCNT1(NM_020822.2):c.601-13C>G - KCNT1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.618G>C r.(?) p.(Gln206His) - likely benign g.138649019G>C g.135757173G>C KCNT1(NM_001272003.1):c.474G>C (p.(Gln158His)) - KCNT1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.625C>T r.(?) p.(Arg209Cys) - likely benign, VUS g.138649026C>T g.135757180C>T KCNT1(NM_020822.2):c.625C>T (p.R209C) - KCNT1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.651C>G r.(?) p.(Ile217Met) - VUS g.138649052C>G g.135757206C>G KCNT1(NM_020822.2):c.651C>G (p.I217M) - KCNT1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.694C>T r.(?) p.(Arg232Trp) - VUS g.138649162C>T g.135757316C>T KCNT1(NM_020822.2):c.694C>T (p.R232W) - KCNT1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.711C>G r.(?) p.(Pro237=) - benign g.138649179C>G g.135757333C>G KCNT1(NM_020822.2):c.711C>G (p.P237=) - KCNT1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.743C>T r.(?) p.(Ala248Val) - VUS g.138649211C>T g.135757365C>T KCNT1(NM_020822.2):c.743C>T (p.A248V) - KCNT1_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.759+8G>A r.(=) p.(=) - likely benign g.138649235G>A g.135757389G>A KCNT1(NM_020822.2):c.759+8G>A - KCNT1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.759+12C>G r.(=) p.(=) - benign g.138649239C>G g.135757393C>G KCNT1(NM_020822.2):c.759+12C>G - KCNT1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.759+13G>A r.(=) p.(=) - likely benign g.138649240G>A g.135757394G>A KCNT1(NM_020822.2):c.759+13G>A - KCNT1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.760-50T>C r.(=) p.(=) - likely benign g.138650210T>C g.135758364T>C KCNT1(NM_020822.2):c.760-50T>C - KCNT1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.760-47C>T r.(=) p.(=) - benign g.138650213C>T g.135758367C>T KCNT1(NM_020822.2):c.760-47C>T - KCNT1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.785G>A r.(?) p.(Arg262Gln) - pathogenic g.138650285G>A g.135758439G>A - - KCNT1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.830C>A r.(?) p.(Thr277Asn) - likely pathogenic g.138650330C>A g.135758484C>A KCNT1(NM_020822.2):c.830C>A (p.T277N) - KCNT1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./., ?/. 2 - c.844G>A r.(?) p.(Val282Ile) - VUS g.138650344G>A g.135758498G>A KCNT1(NM_020822.2):c.844G>A (p.V282I) - KCNT1_000002 VKGL data sharing initiative Nederland PubMed: Bobbili 2018, Journal: Bobbili 2018 - - CLASSIFICATION record, Germline - 1/567 controls - - - VKGL-NL_Rotterdam, Dheeraj Bobbili
+/. 2 - c.862G>A r.(?) p.(Gly288Ser) - pathogenic g.138651532G>A g.135759686G>A KCNT1(NM_020822.2):c.862G>A (p.G288S) - KCNT1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.889G>A r.(?) p.(Glu297Lys) - likely benign g.138651559G>A g.135759713G>A KCNT1(NM_020822.2):c.889G>A (p.E297K) - KCNT1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.894C>T r.(?) p.(Asn298=) - likely benign g.138651564C>T g.135759718C>T KCNT1(NM_020822.2):c.894C>T (p.N298=) - KCNT1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.918C>G r.(?) p.(Tyr306Ter) - VUS g.138651588C>G g.135759742C>G - - KCNT1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.927C>G r.(?) p.(Ile309Met) - likely benign g.138651597C>G g.135759751C>G KCNT1(NM_020822.2):c.927C>G (p.I309M) - KCNT1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.985C>T r.(?) p.(Leu329=) - likely benign g.138651655C>T g.135759809C>T KCNT1(NM_020822.2):c.985C>T (p.L329=) - KCNT1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1013C>G r.(?) p.(Ala338Gly) - likely pathogenic g.138651683C>G g.135759837C>G - - KCNT1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1018G>A r.(?) p.(Val340Met) - likely benign g.138651688G>A g.135759842G>A KCNT1(NM_020822.2):c.1018G>A (p.V340M) - KCNT1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1036-69del r.(=) p.(=) - likely benign g.138656808del g.135764962del KCNT1(NM_020822.2):c.1036-69delC - KCNT1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1036-15G>A r.(=) p.(=) - benign g.138656862G>A g.135765016G>A KCNT1(NM_020822.2):c.1036-15G>A - KCNT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1036-12T>G r.(=) p.(=) - likely benign g.138656865T>G g.135765019T>G KCNT1(NM_020822.2):c.1036-12T>G - KCNT1_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1038C>T r.(?) p.(Phe346=) - likely benign g.138656879C>T g.135765033C>T KCNT1(NM_020822.2):c.1038C>T (p.F346=) - KCNT1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1056C>G r.(?) p.(Leu352=) - benign g.138656897C>G g.135765051C>G KCNT1(NM_020822.2):c.1056C>G (p.L352=) - KCNT1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1061T>G r.(?) p.(Met354Arg) - pathogenic g.138656902T>G g.135765056T>G - - KCNT1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1066C>T r.(?) p.(Arg356Trp) - likely pathogenic g.138656907C>T - KCNT1(NM_020822.2):c.1066C>T (p.R356W) - KCNT1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1097A>G r.(?) p.(His366Arg) - VUS g.138656938A>G - - - KCNT1_000239 - PubMed: Schalk 2022 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.1134C>T r.(?) p.(Val378=) - likely benign g.138656975C>T g.135765129C>T KCNT1(NM_020822.2):c.1134C>T (p.V378=) - KCNT1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/., ./., ?/. 3 - c.1156C>T r.(?) p.(Leu386Phe) - likely benign, VUS g.138656997C>T g.135765151C>T KCNT1(NM_020822.2):c.1156C>T (p.L386F) - KCNT1_000003 VKGL data sharing initiative Nederland PubMed: Bobbili 2018, Journal: Bobbili 2018 - - CLASSIFICATION record, Germline - 1/567 controls - - - VKGL-NL_Rotterdam, Dheeraj Bobbili, VKGL-NL_Utrecht
+/. 1 - c.1193G>A r.(?) p.(Arg398Gln) - pathogenic g.138657034G>A g.135765188G>A - - KCNT1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.1200+12T>G r.(=) p.(=) - benign g.138657053T>G g.135765207T>G KCNT1(NM_020822.2):c.1200+12T>G - KCNT1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1200+14C>T r.(=) p.(=) - likely benign g.138657055C>T g.135765209C>T KCNT1(NM_020822.2):c.1200+14C>T - KCNT1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1200+53C>T r.(=) p.(=) - likely benign g.138657094C>T g.135765248C>T KCNT1(NM_020822.2):c.1200+53C>T - KCNT1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1200+68A>G r.(=) p.(=) - benign g.138657109A>G g.135765263A>G KCNT1(NM_020822.2):c.1200+68A>G - KCNT1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1201-14C>T r.(=) p.(=) - likely benign g.138657456C>T g.135765610C>T KCNT1(NM_020822.2):c.1201-14C>T - KCNT1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1208A>G r.(?) p.(Tyr403Cys) - pathogenic g.138657477A>G g.135765631A>G - - KCNT1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1283G>A r.(?) p.(Arg428Gln) - pathogenic g.138657552G>A g.135765706G>A KCNT1(NM_020822.2):c.1283G>A (p.R428Q) - KCNT1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1317C>G r.(?) p.(Asp439Glu) - likely benign g.138657586C>G g.135765740C>G - - KCNT1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1326C>A r.(?) p.(Leu442=) - likely benign g.138657595C>A g.135765749C>A KCNT1(NM_020822.2):c.1326C>A (p.L442=) - KCNT1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1327A>T r.(?) p.(Met443Leu) - likely benign g.138657596A>T g.135765750A>T KCNT1(NM_020822.2):c.1327A>T (p.M443L) - KCNT1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1330C>T r.(?) p.(Arg444*) - VUS g.138657599C>T - KCNT1(NM_020822.2):c.1330C>T (p.R444*) - KCNT1_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1337+7G>A r.(=) p.(=) - likely benign g.138657613G>A - KCNT1(NM_020822.2):c.1337+7G>A - KCNT1_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1338-56G>A r.(=) p.(=) - likely benign g.138660400G>A g.135768554G>A KCNT1(NM_020822.2):c.1338-56G>A - KCNT1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1338-3C>T r.spl? p.? - likely benign g.138660453C>T g.135768607C>T KCNT1(NM_020822.2):c.1338-3C>T - KCNT1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1394C>T r.(?) p.(Thr465Met) - VUS g.138660512C>T g.135768666C>T - - KCNT1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1402-40G>A r.(=) p.(=) - likely benign g.138660635G>A g.135768789G>A KCNT1(NM_020822.2):c.1402-40G>A - KCNT1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1402-6C>T r.(=) p.(=) - likely benign g.138660669C>T - KCNT1(NM_020822.2):c.1402-6C>T - KCNT1_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1407C>G r.(?) p.(His469Gln) - likely benign g.138660680C>G g.135768834C>G KCNT1(NM_001272003.1):c.1272C>G (p.(His424Gln)) - KCNT1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +?/. 2 - c.1420C>T r.(?) p.(Arg474Cys) - likely pathogenic, pathogenic g.138660693C>T g.135768847C>T KCNT1(NM_020822.2):c.1420C>T (p.R474C) - KCNT1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.1421G>A r.(?) p.(Arg474His) - pathogenic g.138660694G>A g.135768848G>A KCNT1(NM_020822.2):c.1421G>A (p.R474H) - KCNT1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.1423G>A r.(?) p.(Ala475Thr) - VUS g.138660696G>A g.135768850G>A - - KCNT1_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144956052 Germline - 1/567 controls - - - Dheeraj Bobbili
-?/. 1 - c.1443C>T r.(?) p.(Phe481=) - likely benign g.138660716C>T g.135768870C>T KCNT1(NM_020822.2):c.1443C>T (p.F481=) - KCNT1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1496A>G r.(?) p.(His499Arg) - VUS g.138660769A>G g.135768923A>G KCNT1(NM_020822.2):c.1496A>G (p.(His499Arg)) - KCNT1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1510+31T>C r.(=) p.(=) - benign g.138660814T>C g.135768968T>C KCNT1(NM_020822.2):c.1510+31T>C - KCNT1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1510+80C>T r.(=) p.(=) - likely benign g.138660863C>T g.135769017C>T KCNT1(NM_020822.2):c.1510+80C>T - KCNT1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1613G>T r.(?) p.(Arg538Leu) - likely benign g.138661895G>T g.135770049G>T - - KCNT1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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