All variants in the KCNQ3 gene

Information The variants shown are described using the NM_004519.3 transcript reference sequence.

128 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

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     
?/. - c.31dup r.(?) p.(Ala11Glyfs*17) - VUS g.133492753dup - KCNQ3(NM_004519.3):c.31dupG (p.(Ala11fs)) - KCNQ3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.50_58dup r.(?) p.(Asp17_Gly19dup) - VUS g.133492726_133492734dup - KCNQ3(NM_004519.4):c.50_58dup (p.(Asp17_Gly19dup)) - KCNQ3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.91G>A r.(?) p.(Gly31Arg) - VUS g.133492689C>T - KCNQ3(NM_004519.4):c.91G>A (p.(Gly31Arg)) - KCNQ3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.105_107dup r.(?) p.(Ala36dup) - VUS g.133492681_133492683dup g.132480434_132480436dup KCNQ3(NM_004519.3):c.105_107dupGGC (p.(Ala36dup)) - KCNQ3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.160A>G r.(?) p.(Thr54Ala) - VUS g.133492620T>C g.132480373T>C KCNQ3(NM_004519.4):c.160A>G (p.T54A) - KCNQ3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.170T>C r.(?) p.(Leu57Pro) - VUS g.133492610A>G - KCNQ3(NM_004519.3):c.170T>C (p.(Leu57Pro)), KCNQ3(NM_004519.4):c.170T>C (p.L57P) - KCNQ3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.170T>C r.(?) p.(Leu57Pro) - VUS g.133492610A>G - KCNQ3(NM_004519.3):c.170T>C (p.(Leu57Pro)), KCNQ3(NM_004519.4):c.170T>C (p.L57P) - KCNQ3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.213C>T r.(?) p.(Gly71=) - likely benign g.133492567G>A - KCNQ3(NM_004519.4):c.213C>T (p.G71=) - KCNQ3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.220C>T r.(?) p.(Arg74Cys) - VUS g.133492560G>A g.132480313G>A KCNQ3(NM_004519.4):c.220C>T (p.R74C) - KCNQ3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.386+33162C>T r.(=) p.(=) - benign g.133459232G>A g.132446985G>A KCNQ3(NM_004519.4):c.386+33162C>T - KCNQ3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.386+33167C>G r.(=) p.(=) - benign g.133459227G>C g.132446980G>C KCNQ3(NM_004519.4):c.386+33167C>G - KCNQ3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.386+33167C>T r.(=) p.(=) - benign g.133459227G>A g.132446980G>A KCNQ3(NM_004519.4):c.386+33167C>T - KCNQ3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.387-1129G>A r.(=) p.(=) - benign g.133199557C>T g.132187310C>T KCNQ3(NM_004519.4):c.387-1129G>A - KCNQ3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.387-428C>T r.(=) p.(=) - benign g.133198856G>A g.132186609G>A KCNQ3(NM_004519.4):c.387-428C>T - KCNQ3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.478-72G>T r.(=) p.(=) - likely benign g.133196686C>A g.132184439C>A KCNQ3(NM_004519.4):c.478-72G>T - KCNQ3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.604+1708G>A r.(=) p.(=) - VUS g.133194780C>T g.132182533C>T - - KCNQ3_000012 - - - - Germline - - - - - Yu Sun
-/. - c.660T>C r.(=) p.(=) - benign g.133192521A>G g.132180274A>G - - KCNQ3_000005 - - - - Germline - - - - - Andreas Laner
-/. - c.660T>C r.(?) p.(Asn220=) - benign g.133192521A>G g.132180274A>G KCNQ3(NM_004519.4):c.660T>C (p.N220=) - KCNQ3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.660T>C r.(?) p.(Asn220=) - benign g.133192521A>G g.132180274A>G KCNQ3(NM_004519.4):c.660T>C (p.N220=) - KCNQ3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.679C>T r.(?) p.(Arg227*) - pathogenic g.133192502G>A g.132180255G>A - - KCNQ3_000072 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052675 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. - c.680G>A r.(?) p.(Arg227Gln) - VUS g.133192501C>T g.132180254C>T KCNQ3(NM_004519.4):c.680G>A (p.R227Q) - KCNQ3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.688C>A r.(?) p.(Arg230Ser) - likely pathogenic (dominant) g.133192493G>T g.132180246G>T - - KCNQ3_000074 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.688C>A r.(?) p.(Arg230Ser) - pathogenic g.133192493G>T - KCNQ3(NM_004519.4):c.688C>A (p.(Arg230Ser)) - KCNQ3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.688C>T r.(?) p.(Arg230Cys) - likely pathogenic g.133192493G>A g.132180246G>A - - KCNQ3_000002 - PubMed: Bosch 2016, Journal: Bosch 2016 - - De novo - - - - - Danielle Bosch
+/. - c.689G>A r.(?) p.(Arg230His) - pathogenic g.133192492C>T g.132180245C>T KCNQ3(NM_004519.4):c.689G>A (p.R230H) - KCNQ3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.689G>A r.(?) p.(Arg230His) - pathogenic g.133192492C>T - KCNQ3(NM_004519.4):c.689G>A (p.R230H) - KCNQ3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.707G>A r.(?) p.(Arg236His) - likely pathogenic g.133192474C>T g.132180227C>T KCNQ3(NM_004519.4):c.707G>A (p.R236H) - KCNQ3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.732T>C r.(=) p.(=) - benign g.133192449A>G g.132180202A>G - - KCNQ3_000004 - - - - Germline - - - - - Andreas Laner
-/. - c.732T>C r.(?) p.(Gly244=) - benign g.133192449A>G g.132180202A>G KCNQ3(NM_004519.4):c.732T>C (p.G244=) - KCNQ3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.732T>C r.(?) p.(Gly244=) - benign g.133192449A>G g.132180202A>G KCNQ3(NM_004519.4):c.732T>C (p.G244=) - KCNQ3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.767C>A r.(?) p.(Ala256Asp) - likely pathogenic g.133192414G>T g.132180167G>T KCNQ3(NM_004519.4):c.767C>A (p.A256D) - KCNQ3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.777+135A>G r.(=) p.(=) - benign g.133192269T>C g.132180022T>C KCNQ3(NM_004519.4):c.777+135A>G - KCNQ3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.834T>C r.(?) p.(Leu278=) - likely benign g.133187799A>G g.132175552A>G KCNQ3(NM_004519.3):c.834T>C (p.L278=), KCNQ3(NM_004519.4):c.834T>C (p.L278=) - KCNQ3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.834T>C r.(?) p.(Leu278=) - benign g.133187799A>G g.132175552A>G KCNQ3(NM_004519.3):c.834T>C (p.L278=), KCNQ3(NM_004519.4):c.834T>C (p.L278=) - KCNQ3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.856G>A r.(?) p.(Val286Ile) - VUS g.133187777C>T g.132175530C>T KCNQ3(NM_004519.3):c.856G>A (p.V286I, p.(Val286Ile)) - KCNQ3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.856G>A r.(?) p.(Val286Ile) - VUS g.133187777C>T - KCNQ3(NM_004519.3):c.856G>A (p.V286I, p.(Val286Ile)) - KCNQ3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.933+25T>C r.(=) p.(=) - benign g.133187675A>G g.132175428A>G - - KCNQ3_000003 - - - - Germline - - - - - Andreas Laner
-/. - c.933+25T>C r.(=) p.(=) - benign g.133187675A>G g.132175428A>G KCNQ3(NM_004519.4):c.933+25T>C - KCNQ3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.934-108G>A r.(=) p.(=) - benign g.133186704C>T g.132174457C>T KCNQ3(NM_004519.4):c.934-108G>A - KCNQ3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 6 c.950T>C r.(?) p.(Ile317Thr) - pathogenic g.133186580A>G g.132174333A>G - - KCNQ3_000001 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - Gaetan Lesca
?/. - c.950T>C r.(?) p.(Ile317Thr) - VUS g.133186580A>G g.132174333A>G KCNQ3(NM_004519.4):c.950T>C (p.I317T) - KCNQ3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.977C>T r.(?) p.(Thr326Met) - likely benign g.133186553G>A - KCNQ3(NM_004519.3):c.977C>T (p.(Thr326Met)) - KCNQ3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.988C>T r.(?) p.(Arg330Cys) - pathogenic g.133186542G>A g.132174295G>A KCNQ3(NM_004519.4):c.988C>T (p.R330C) - KCNQ3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.988C>T r.(?) p.(Arg330Cys) - pathogenic g.133186542G>A g.132174295G>A KCNQ3(NM_004519.4):c.988C>T (p.R330C) - KCNQ3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.988C>T r.(?) p.(Arg330Cys) - likely pathogenic g.133186542G>A - KCNQ3(NM_004519.4):c.988C>T (p.R330C) - KCNQ3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.988C>T r.(?) p.(Arg330Cys) - pathogenic (dominant) g.133186542G>A g.132174295G>A - - KCNQ3_000045 - PubMed: Imafidon 2021 - - De novo - - - - - Johan den Dunnen
+?/. - c.989G>A r.(?) p.(Arg330His) - likely pathogenic g.133186541C>T g.132174294C>T KCNQ3(NM_004519.4):c.989G>A (p.R330H) - KCNQ3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. - c.1000G>A r.(?) p.(Ala334Thr) - VUS g.133186530C>T g.132174283C>T - - KCNQ3_000020 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - Dheeraj Bobbili
?/. - c.1013T>C r.(?) p.(Leu338Ser) - VUS g.133186517A>G - KCNQ3(NM_004519.4):c.1013T>C (p.L338S) - KCNQ3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1019G>T r.(?) p.(Gly340Val) - VUS g.133186511C>A g.132174264C>A KCNQ3(NM_004519.4):c.1019G>T (p.G340V) - KCNQ3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1044G>A r.(?) p.(=) - VUS g.133186486C>T - KCNQ3(NM_004519.4):c.1044G>A (p.A348=) - KCNQ3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1044+156A>G r.(=) p.(=) - benign g.133186330T>C g.132174083T>C KCNQ3(NM_004519.4):c.1044+156A>G - KCNQ3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1044+195A>G r.(=) p.(=) - benign g.133186291T>C g.132174044T>C KCNQ3(NM_004519.4):c.1044+195A>G - KCNQ3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1048A>C r.(?) p.(Ile350Leu) - VUS g.133184937T>G g.132172690T>G KCNQ3(NM_004519.4):c.1048A>C (p.I350L) - KCNQ3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1071C>G r.(=) p.(=) - benign g.133184914G>C g.132172667G>C - - KCNQ3_000008 - - - - Germline - - - - - Andreas Laner
-/. - c.1071C>G r.(?) p.(Leu357=) - benign g.133184914G>C g.132172667G>C KCNQ3(NM_004519.4):c.1071C>G (p.L357=) - KCNQ3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1114A>T r.(?) p.(Arg372Trp) - VUS g.133184871T>A - KCNQ3(NM_004519.4):c.1114A>T (p.R372W) - KCNQ3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1121C>T r.(?) p.(Pro374Leu) - VUS g.133184864G>A - KCNQ3(NM_004519.4):c.1121C>T (p.P374L) - KCNQ3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1140+77T>A r.(=) p.(=) - benign g.133184768A>T g.132172521A>T - - KCNQ3_000007 - - - rs3889950 Germline - - - - - Andreas Laner
-?/. - c.1140+77T>A r.(=) p.(=) - likely benign g.133184768A>T g.132172521A>T KCNQ3(NM_004519.4):c.1140+77T>A - KCNQ3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1140+167G>C r.(=) p.(=) - benign g.133184678C>G g.132172431C>G KCNQ3(NM_004519.4):c.1140+167G>C - KCNQ3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. - c.1142C>T r.(?) p.(Ala381Val) - VUS g.133182674G>A g.132170427G>A - - KCNQ3_000019 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - Dheeraj Bobbili
-/. - c.1235+21A>G r.(=) p.(=) - benign g.133182560T>C g.132170313T>C KCNQ3(NM_004519.4):c.1235+21A>G - KCNQ3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1236-64C>T r.(=) p.(=) - benign g.133175805G>A g.132163558G>A - - KCNQ3_000006 - - - - Germline - - - - - Andreas Laner
-?/. - c.1236-16C>T r.(=) p.(=) - likely benign g.133175757G>A g.132163510G>A KCNQ3(NM_004519.4):c.1236-16C>T - KCNQ3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1241A>G r.(?) p.(Glu414Gly) - benign g.133175736T>C g.132163489T>C KCNQ3(NM_004519.4):c.1241A>G (p.E414G) - KCNQ3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1249G>A r.(?) p.(Glu417Lys) - VUS g.133175728C>T g.132163481C>T KCNQ3(NM_001204824.1):c.889G>A (p.(Glu297Lys)) - KCNQ3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1249_1250delinsAT r.(?) p.(Glu417Met) - likely benign g.133175727_133175728delinsAT - KCNQ3(NM_004519.4):c.1249_1250delinsAT (p.(Glu417Met)) - KCNQ3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1250A>T r.(?) p.(Glu417Val) - VUS g.133175727T>A g.132163480T>A KCNQ3(NM_001204824.1):c.890A>T (p.(Glu297Val)) - KCNQ3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1391T>C r.(?) p.(Val464Ala) - likely benign g.133153450A>G g.132141203A>G KCNQ3(NM_004519.4):c.1391T>C (p.(Val464Ala), p.V464A) - KCNQ3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1391T>C r.(?) p.(Val464Ala) - likely benign g.133153450A>G - KCNQ3(NM_004519.4):c.1391T>C (p.(Val464Ala), p.V464A) - KCNQ3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1403A>G r.(?) p.(Asn468Ser) - VUS g.133153438T>C g.132141191T>C - - KCNQ3_000071 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118192252 Germline - 6/2794 individuals - - - Mohammed Faruq
+/. - c.1403A>G r.(?) p.(Asn468Ser) - pathogenic (dominant) g.133153438T>C g.132141191T>C NM_001204824.2:c.1403A>G - KCNQ3_000071 - PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.1457G>A r.(?) p.(Ser486Asn) - VUS g.133153384C>T - KCNQ3(NM_004519.4):c.1457G>A (p.S486N) - KCNQ3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. - c.1507G>A r.(?) p.(Gly503Arg) - VUS g.133152384C>T g.132140137C>T - - KCNQ3_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
?/. - c.1568+16T>C r.(=) p.(=) - VUS g.133152307A>G g.132140060A>G KCNQ3(NM_004519.4):c.1568+16T>C - KCNQ3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1583G>A r.(?) p.(Arg528His) - likely benign g.133150249C>T - KCNQ3(NM_004519.3):c.1583G>A (p.(Arg528His)) - KCNQ3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1657G>A r.(?) p.(Gly553Arg) - likely pathogenic g.133150175C>T - - - KCNQ3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1663C>T r.(?) p.(Leu555Phe) ACMG VUS g.133150169G>A - - - KCNQ3_000077 ACMG: PM2_SUP, PP3 - - - Germline ? - - - - Andreas Laner
-?/. - c.1700+3G>A r.spl? p.? - likely benign g.133150129C>T g.132137882C>T KCNQ3(NM_004519.4):c.1700+3G>A - KCNQ3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1700+29G>A r.(=) p.(=) - benign g.133150103C>T g.132137856C>T - - KCNQ3_000009 - - - rs2469515 Germline - - - - - Andreas Laner
-/. - c.1700+29G>A r.(=) p.(=) - benign g.133150103C>T g.132137856C>T KCNQ3(NM_004519.4):c.1700+29G>A - KCNQ3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1701-148C>T r.(=) p.(=) - benign g.133146783G>A g.132134536G>A KCNQ3(NM_004519.4):c.1701-148C>T - KCNQ3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1701-143T>A r.(=) p.(=) - benign g.133146778A>T g.132134531A>T KCNQ3(NM_004519.4):c.1701-143T>A - KCNQ3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1701-141C>T r.(=) p.(=) - benign g.133146776G>A g.132134529G>A KCNQ3(NM_004519.4):c.1701-141C>T - KCNQ3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1701-133_1701-129del r.(=) p.(=) - benign g.133146766_133146770del g.132134519_132134523del KCNQ3(NM_004519.4):c.1701-133_1701-129delACTTC - KCNQ3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1701-126del r.(=) p.(=) - likely benign g.133146762del g.132134515del KCNQ3(NM_004519.4):c.1701-126delC - KCNQ3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1701-126_1701-124del r.(=) p.(=) - benign g.133146762_133146764del g.132134515_132134517del KCNQ3(NM_004519.4):c.1701-126_1701-124delCTC - KCNQ3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1706A>G r.(?) p.(Asp569Gly) - VUS g.133146630T>C - KCNQ3(NM_004519.4):c.1706A>G (p.(Asp569Gly), p.D569G) - KCNQ3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1706A>G r.(?) p.(Asp569Gly) - VUS g.133146630T>C - KCNQ3(NM_004519.4):c.1706A>G (p.(Asp569Gly), p.D569G) - KCNQ3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1708_1709dup r.(?) p.(Met570Ilefs*2) - VUS g.133146629_133146630dup - KCNQ3(NM_004519.4):c.1708_1709dupAT (p.M570Ifs*2) - KCNQ3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
./. - c.1709T>C r.(?) p.(Met570Thr) - VUS g.133146627A>G g.132134380A>G - - KCNQ3_000017 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs199999939 Germline - 1/567 controls - - - Dheeraj Bobbili
?/. - c.1709T>C r.(?) p.(Met570Thr) - VUS g.133146627A>G - KCNQ3(NM_004519.4):c.1709T>C (p.M570T) - KCNQ3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1720C>T r.(?) p.(Pro574Ser) - likely benign g.133146616G>A g.132134369G>A KCNQ3(NM_004519.3):c.1720C>T (p.P574S), KCNQ3(NM_004519.4):c.1720C>T (p.P574S) - KCNQ3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1720C>T r.(?) p.(Pro574Ser) - VUS g.133146616G>A g.132134369G>A - - KCNQ3_000027 - PubMed: Papuc 2019 - rs74582884 Germline no - - - - Anaïs Begemann
-?/. - c.1720C>T r.(?) p.(Pro574Ser) - likely benign g.133146616G>A g.132134369G>A KCNQ3(NM_004519.3):c.1720C>T (p.P574S), KCNQ3(NM_004519.4):c.1720C>T (p.P574S) - KCNQ3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1720C>T r.(?) p.(Pro574Ser) - likely benign g.133146616G>A - KCNQ3(NM_004519.3):c.1720C>T (p.P574S), KCNQ3(NM_004519.4):c.1720C>T (p.P574S) - KCNQ3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.1868T>C r.(?) p.(Val623Ala) - VUS g.133144443A>G g.132132196A>G - - KCNQ3_000016 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
-/. - c.1884+12C>T r.(=) p.(=) - benign g.133144415G>A g.132132168G>A KCNQ3(NM_004519.4):c.1884+12C>T - KCNQ3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1884+80dup r.(=) p.(=) - benign g.133144347dup g.132132100dup - - KCNQ3_000011 - - - - Germline - - - - - Andreas Laner
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.