All variants in the KCNJ1 gene

Information The variants shown are described using the NM_000220.4 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-24876T>C r.(?) p.(=) - benign g.128737188A>G g.128867293A>G - - KCNJ1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.102G>A r.(?) p.(Gly34=) - benign g.128710094C>T g.128840199C>T - - KCNJ1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.123del r.(?) p.(Arg41SerfsTer2) - pathogenic (recessive) g.128710074del g.128840179del 123delG - KCNJ1_000036 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.123del r.(?) p.(Arg41SerfsTer2) - pathogenic (recessive) g.128710074del g.128840179del 123delG - KCNJ1_000036 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
?/. - c.137A>G r.(?) p.(Asp46Gly) - VUS g.128710059T>C g.128840164T>C KCNJ1(NM_000220.4):c.137A>G (p.(Asp46Gly)) - KCNJ1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.146G>A r.(?) p.(Cys49Tyr) - pathogenic g.128710050C>T g.128840155C>T - - KCNJ1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.158T>G r.(?) p.(Phe53Cys) - pathogenic (recessive) g.128710038A>C g.128840143A>C - - KCNJ1_000035 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.220G>T r.(?) p.(Asp74Tyr) - pathogenic (recessive) g.128709976C>A g.128840081C>A - - KCNJ1_000034 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
-?/. - c.228G>A r.(?) p.(Lys76=) - likely benign g.128709968C>T - KCNJ1(NM_000220.6):c.228G>A (p.K76=) - KCNJ1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.235T>C r.(?) p.(Tyr79His) - pathogenic (recessive) g.128709961A>G g.128840066A>G - - KCNJ1_000033 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.271del r.(?) p.(Ser91ValfsTer12) - pathogenic (recessive) g.128709925del g.128840030del 271delG - KCNJ1_000032 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
?/. - c.297_299delinsCTT r.(?) p.(Trp99_Tyr100delinsCysPhe) - VUS g.128709897_128709899delinsAAG - - - KCNJ1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.309G>A r.(?) p.(Ala103=) - benign g.128709887C>T g.128839992C>T - - KCNJ1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.329C>T r.(?) p.(Pro110Leu) - pathogenic (recessive) g.128709867G>A g.128839972G>A - - KCNJ1_000031 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.365T>A r.(?) p.(Val122Glu) - pathogenic (recessive) g.128709831A>T g.128839936A>T - - KCNJ1_000030 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.365T>A r.(?) p.(Val122Glu) - pathogenic (recessive) g.128709831A>T g.128839936A>T - - KCNJ1_000030 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.365T>A r.(?) p.(Val122Glu) - pathogenic g.128709831A>T - KCNJ1(NM_000220.6):c.365T>A (p.V122E) - KCNJ1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.526G>A r.(?) p.(Gly176Arg) - VUS g.128709670C>T g.128839775C>T KCNJ1(NM_153767.3):c.469G>A (p.G157R) - KCNJ1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.548C>G r.(?) p.(Ser183Cys) - pathogenic (recessive) g.128709648G>C g.128839753G>C - - KCNJ1_000029 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.550del r.(?) p.(Arg184GlyfsTer16) - pathogenic (recessive) g.128709646del g.128839751del 550delA - KCNJ1_000028 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.562C>T r.(?) p.(Arg188Cys) - pathogenic (recessive) g.128709634G>A g.128839739G>A - - KCNJ1_000027 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.634C>T r.(?) p.(Arg212Ter) - pathogenic (recessive) g.128709562G>A g.128839667G>A - - KCNJ1_000026 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.641C>T r.(?) p.(Ala214Val) - pathogenic (recessive) g.128709555G>A g.128839660G>A - - KCNJ1_000025 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.641C>T r.(?) p.(Ala214Val) - pathogenic (recessive) g.128709555G>A g.128839660G>A - - KCNJ1_000025 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
-?/. - c.651G>A r.(?) p.(Arg217=) - likely benign g.128709545C>T g.128839650C>T KCNJ1(NM_153767.3):c.594G>A (p.R198=) - KCNJ1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.657C>G r.(?) p.(Ser219Arg) - pathogenic g.128709539G>C g.128839644G>C - - KCNJ1_000015 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894245 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. - c.658C>T r.(?) p.(Leu220Phe) - pathogenic g.128709538G>A - KCNJ1(NM_153766.2):c.601C>T (p.(Leu201Phe)) - KCNJ1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.683G>A r.(?) p.(Gly228Glu) - pathogenic (recessive) g.128709513C>T g.128839618C>T - - KCNJ1_000024 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.683G>A r.(?) p.(Gly228Glu) - pathogenic (recessive) g.128709513C>T g.128839618C>T - - KCNJ1_000024 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+?/. 2 c.827G>A r.(?) p.(Ser276Asn) ACMG likely pathogenic g.128709369C>T g.128839474C>T - - KCNJ1_000039 - - ClinVar-3378410 - Germline yes - - - - Marketa Wayhelova
+/. - c.890T>C r.(?) p.(Leu297Ser) - pathogenic (recessive) g.128709306A>G g.128839411A>G - - KCNJ1_000023 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.890T>C r.(?) p.(Leu297Ser) - pathogenic (recessive) g.128709306A>G g.128839411A>G - - KCNJ1_000023 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.931C>T r.(?) p.(Arg311Trp) - pathogenic (recessive) g.128709265G>A g.128839370G>A - - KCNJ1_000022 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.944T>G r.(?) p.(Val315Gly) - pathogenic (recessive) g.128709252A>C g.128839357A>C - - KCNJ1_000021 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.944T>G r.(?) p.(Val315Gly) - pathogenic (recessive) g.128709252A>C g.128839357A>C - - KCNJ1_000021 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.959T>C r.(?) p.(Leu320Pro) - pathogenic (recessive) g.128709237A>G g.128839342A>G - - KCNJ1_000020 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.959T>C r.(?) p.(Leu320Pro) - pathogenic (recessive) g.128709237A>G g.128839342A>G - - KCNJ1_000020 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
?/. - c.968A>G r.(?) p.(Tyr323Cys) - VUS g.128709228T>C g.128839333T>C KCNJ1(NM_153764.1):c.911A>G (p.(Tyr304Cys)) - KCNJ1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.996_999del r.(?) p.(Glu334GlyfsTer35) - pathogenic (recessive) g.128709197_128709200del g.128839302_128839305del 996delAAAG - KCNJ1_000019 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338Ter) - pathogenic (recessive) g.128709184G>A g.128839289G>A - - KCNJ1_000018 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338Ter) - pathogenic (recessive) g.128709184G>A g.128839289G>A - - KCNJ1_000018 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338Ter) - pathogenic (recessive) g.128709184G>A g.128839289G>A - - KCNJ1_000018 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338Ter) - pathogenic (recessive) g.128709184G>A g.128839289G>A - - KCNJ1_000018 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338Ter) - pathogenic (recessive) g.128709184G>A g.128839289G>A - - KCNJ1_000018 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
-?/. - c.1013G>A r.(?) p.(Arg338Gln) - likely benign g.128709183C>T g.128839288C>T KCNJ1(NM_000220.4):c.1013G>A (p.(Arg338Gln)) - KCNJ1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1058dup r.(?) p.(His354SerfsTer8) - pathogenic (recessive) g.128709141dup g.128839246dup 1058insC - KCNJ1_000017 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.1058dup r.(?) p.(His354Serfs*8) - pathogenic g.128709141dup - KCNJ1(NM_000220.6):c.1058dupC (p.H354Sfs*8) - KCNJ1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 c.1058dup r.(?) p.(His354Serfs*8) ACMG pathogenic g.128709141dup g.128839246dup - - KCNJ1_000017 - - ClinVar-586075 rs768286324 Germline yes - - - - Marketa Wayhelova
-/. - c.1070T>C r.(?) p.(Met357Thr) - benign g.128709126A>G g.128839231A>G KCNJ1(NM_000220.6):c.1070T>C (p.M357T), KCNJ1(NM_153767.3):c.1013T>C (p.M338T) - KCNJ1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1070T>C r.(?) p.(Met357Thr) - benign g.128709126A>G g.128839231A>G - - KCNJ1_000003 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs59172778 Germline - 11/2795 individuals - - - Mohammed Faruq
-?/. - c.1070T>C r.(?) p.(Met357Thr) - likely benign g.128709126A>G - KCNJ1(NM_000220.6):c.1070T>C (p.M357T), KCNJ1(NM_153767.3):c.1013T>C (p.M338T) - KCNJ1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1091A>G r.(?) p.(Asp364Gly) - VUS g.128709105T>C g.128839210T>C KCNJ1(NM_000220.4):c.1091A>G (p.(Asp364Gly)), KCNJ1(NM_000220.6):c.1091A>G (p.D364G) - KCNJ1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1091A>G r.(?) p.(Asp364Gly) - likely benign g.128709105T>C - KCNJ1(NM_000220.4):c.1091A>G (p.(Asp364Gly)), KCNJ1(NM_000220.6):c.1091A>G (p.D364G) - KCNJ1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*16G>A r.(=) p.(=) - benign g.128709004C>T g.128839109C>T KCNJ1(NM_000220.6):c.*16G>A - KCNJ1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*73A>T r.(=) p.(=) - benign g.128708947T>A g.128839052T>A - - KCNJ1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*597C>T r.(=) p.(=) - VUS g.128708423G>A g.128838528G>A - - KCNJ1_000014 15 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117189807 Germline - 15/2795 individuals - - - Mohammed Faruq
?/. - c.*597C>T r.(=) p.(=) - VUS g.128708423G>A g.128838528G>A - - KCNJ1_000014 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117189807 Germline - 1/2795 individuals - - - Mohammed Faruq
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