All transcript variants in gene KCNJ11

Information The variants shown are described using the NM_000525.3 transcript reference sequence.

138 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-6235C>T likely benign r.(?) p.(=) g.17415873G>A - ABCC8(NM_000352.3):c.4485C>T (p.(=)) - ABCC8_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-6178C>A likely benign r.(?) p.(=) g.17415816G>T - ABCC8(NM_000352.3):c.4542C>A (p.(=)) - ABCC8_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-6176C>T VUS r.(?) p.(=) g.17415814G>A - ABCC8(NM_000352.3):c.4544C>T (p.(Thr1515Met)) - ABCC8_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-5651G>T likely benign r.(?) p.(=) g.17415289C>A - ABCC8(NM_000352.3):c.4563G>T (p.(Lys1521Asn)) - ABCC8_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-5552G>C benign r.(?) p.(=) g.17415190C>G - ABCC8(NM_001287174.1):c.4611+54G>C - ABCC8_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-5077A>G benign r.(?) p.(=) g.17414715T>C - ABCC8(NM_001287174.1):c.4612-40A>G - ABCC8_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-5052T>A likely benign r.(?) p.(=) g.17414690A>T - ABCC8(NM_000352.3):c.4609-15T>A (p.(=)) - ABCC8_000421 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-5049T>A VUS r.(?) p.(=) g.17414687A>T - ABCC8(NM_000352.3):c.4609-12T>A (p.(=)) - ABCC8_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-5036A>G VUS r.(?) p.(=) g.17414674T>C - ABCC8(NM_000352.3):c.4610A>G (p.(His1537Arg)) - ABCC8_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-5033G>A VUS r.(?) p.(=) g.17414671C>T - ABCC8(NM_000352.3):c.4613G>A (p.(Arg1538Gln)) - ABCC8_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-5022A>T VUS r.(?) p.(=) g.17414660T>A - ABCC8(NM_000352.3):c.4624A>T (p.(Ile1542Phe)) - ABCC8_000419 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-4990G>A VUS r.(?) p.(=) g.17414628C>T - ABCC8(NM_000352.3):c.4656G>A (p.(=)) - ABCC8_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-4989C>G VUS r.(?) p.(=) g.17414627G>C - ABCC8(NM_000352.3):c.4657C>G (p.(Arg1553Gly)) - ABCC8_000418 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-4943G>A VUS r.(?) p.(=) g.17414581C>T - ABCC8(NM_000352.3):c.4703G>A (p.(Arg1568Gln)) - ABCC8_000417 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-4942G>A likely benign r.(?) p.(=) g.17414580C>T - ABCC8(NM_000352.3):c.4704G>A (p.(=)) - ABCC8_000416 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-4927C>T likely benign r.(?) p.(=) g.17414565G>A - ABCC8(NM_000352.3):c.4719C>T (p.(=)) - ABCC8_000415 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-4918C>T benign r.(?) p.(=) g.17414556G>A - ABCC8(NM_000352.3):c.4728C>T (p.(=)) - ABCC8_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-4917G>A VUS r.(?) p.(=) g.17414555C>T - ABCC8(NM_000352.3):c.4729G>A (p.(Val1577Ile)) - ABCC8_000414 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 c.10C>T pathogenic r.(?) p.(Arg4Cys) g.17409629G>A - - - KCNJ11_000102 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.11G>A VUS r.(?) p.(Arg4His) g.17409628C>T - - - KCNJ11_000101 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
-?/. - c.27C>T likely benign r.(?) p.(=) g.17409612G>A - KCNJ11(NM_000525.3):c.27C>T (p.(=)) - KCNJ11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1 c.50T>C pathogenic r.(?) p.(Leu17Pro) g.17409589A>G - - - KCNJ11_000100 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
-/. - c.67A>G benign r.(?) p.(Lys23Glu) g.17409572T>C - KCNJ11(NM_000525.3):c.67A>G (p.K23E) - KCNJ11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1 c.78C>A pathogenic r.(?) p.(Tyr26*) g.17409561G>T - - - KCNJ11_000099 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.79C>T pathogenic r.(?) p.(Arg27Cys) g.17409560G>A - - - KCNJ11_000098 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.85C>G VUS r.(?) p.(Arg29Gly) g.17409554G>C - KCNJ11(NM_000525.3):c.85C>G (p.(Arg29Gly), p.(=)) - ABCC8_000413 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.92G>T VUS r.(?) p.(Arg31Leu) g.17409547C>A - KCNJ11(NM_000525.3):c.92G>T (p.(Arg31Leu), p.(=)) - ABCC8_000412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.108G>A likely benign r.(?) p.(=) g.17409531C>T - KCNJ11(NM_000525.3):c.108G>A (p.(=)) - KCNJ11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1 c.112A>G pathogenic r.(?) p.(Lys38Glu) g.17409527T>C - - - KCNJ11_000097 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.119G>C pathogenic r.(?) p.(Gly40Ala) g.17409520C>G - - - KCNJ11_000096 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.125G>A VUS r.(?) p.(Cys42Tyr) g.17409514C>T - - - KCNJ11_000095 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.130G>A VUS r.(?) p.(Val44Met) g.17409509C>T - - - KCNJ11_000094 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.133G>T VUS r.(?) p.(Ala45Ser) g.17409506C>A - - - KCNJ11_000093 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.145A>T pathogenic r.(?) p.(Ile49Phe) g.17409494T>A - - - KCNJ11_000092 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.148C>T VUS r.(?) p.(Arg50Trp) g.17409491G>A - KCNJ11(NM_000525.3):c.148C>T (p.(Arg50Trp)) - KCNJ11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 1 c.148C>T VUS r.(?) p.(Arg50Trp) g.17409491G>A - - - KCNJ11_000015 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.152A>G pathogenic r.(?) p.(Glu51Gly) g.17409487T>C - - - KCNJ11_000091 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.155A>C VUS r.(?) p.(Gln52Pro) g.17409484T>G - - - KCNJ11_000090 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.160C>T pathogenic r.(?) p.(Arg54Cys) g.17409479G>A - - - KCNJ11_000089 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.166_167delinsGG pathogenic r.(?) p.(Leu56Gly) g.17409472_17409473delinsCC - - - KCNJ11_000088 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.173A>T VUS r.(?) p.(Asp58Val) g.17409466T>A - - - KCNJ11_000087 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.179T>C VUS r.(?) p.(Phe60Ser) g.17409460A>G - - - KCNJ11_000086 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.185del pathogenic r.(?) p.(Thr62Serfs*68) g.17409454del - - - KCNJ11_000085 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.240del pathogenic r.(?) p.(Cys81Alafs*49) g.17409399del - - - KCNJ11_000084 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.251T>G VUS r.(?) p.(Leu84Arg) g.17409388A>C - - - KCNJ11_000083 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.264G>T VUS r.(?) p.(Met88Ile) g.17409375C>A - KCNJ11(NM_000525.3):c.264G>T (p.(Met88Ile)) - KCNJ11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 1 c.287C>T VUS r.(?) p.(Ala96Val) g.17409352G>A - - - KCNJ11_000082 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.287C>T VUS r.(?) p.(Ala96Val) g.17409352G>A - KCNJ11(NM_000525.3):c.287C>T (p.(Ala96Val)) - KCNJ11_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 c.289C>T VUS r.(?) p.(His97Tyr) g.17409350G>A - - - KCNJ11_000081 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.290A>G VUS r.(?) p.(His97Arg) g.17409349T>C - KCNJ11(NM_000525.3):c.290A>G (p.His97Arg) - KCNJ11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1 c.295G>T pathogenic r.(?) p.(Asp99Tyr) g.17409344C>A - - - KCNJ11_000080 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.309C>T VUS r.(?) p.(=) g.17409330G>A - KCNJ11(NM_000525.3):c.309C>T (p.(=)) - KCNJ11_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 c.341T>C VUS r.(?) p.(Ile114Thr) g.17409298A>G - - - KCNJ11_000079 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.344A>T VUS r.(?) p.(His115Leu) g.17409295T>A - - - KCNJ11_000078 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.353C>T VUS r.(?) p.(Ser118Leu) g.17409286G>A - - - KCNJ11_000077 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.356dup pathogenic r.(?) p.(Ala120Cysfs*7) g.17409283dup - - - KCNJ11_000076 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.362T>C VUS r.(?) p.(Phe121Ser) g.17409277A>G - - - KCNJ11_000075 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.385G>A VUS r.(?) p.(Val129Met) g.17409254C>T - - - KCNJ11_000074 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.390_393dup pathogenic r.(?) p.(Gly132Tyrfs*10) g.17409246_17409249dup - - - KCNJ11_000072 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.391A>G VUS r.(?) p.(Ile131Val) g.17409248T>C - - - KCNJ11_000073 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.391_393dup VUS r.(?) p.(Ile131dup) g.17409246_17409248dup - - - KCNJ11_000071 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.415A>C VUS r.(?) p.(Thr139Pro) g.17409224T>G - - - KCNJ11_000070 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.418G>A VUS r.(?) p.(Glu140Lys) g.17409221C>T - - - KCNJ11_000069 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.425G>A VUS r.(?) p.(Cys142Tyr) g.17409214C>T - - - KCNJ11_000068 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.463G>A VUS r.(?) p.(Val155Met) g.17409176C>T - - - KCNJ11_000067 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.463G>T VUS r.(?) p.(Val155Leu) g.17409176C>A - - - KCNJ11_000066 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.469C>G VUS r.(?) p.(Leu157Val) g.17409170G>C - - - KCNJ11_000065 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.480C>G VUS r.(?) p.(Asn160Lys) g.17409159G>C - - - KCNJ11_000064 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.490C>T VUS r.(?) p.(Leu164Phe) g.17409149G>A - - - KCNJ11_000063 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.498C>G pathogenic r.(?) p.(Cys166Trp) g.17409141G>C - - - KCNJ11_000062 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.499A>G VUS r.(?) p.(Ile167Val) g.17409140T>C - - - KCNJ11_000061 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.506T>C pathogenic r.(?) p.(Met169Thr) g.17409133A>G - - - KCNJ11_000060 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.512C>A VUS r.(?) p.(Thr171Asn) g.17409127G>T - - - KCNJ11_000059 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.527G>A VUS r.(?) p.(Arg176His) g.17409112C>T - KCNJ11(NM_000525.3):c.527G>A (p.(Arg176His), p.(Arg89His)) - KCNJ11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1 c.532del pathogenic r.(?) p.(Ala178Leufs*11) g.17409107del - - - KCNJ11_000058 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.535G>A pathogenic r.(?) p.(Glu179Lys) g.17409104C>T - - - KCNJ11_000057 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.539C>T VUS r.(?) p.(Thr180Ile) g.17409100G>A - - - KCNJ11_000056 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
-?/. - c.567C>A likely benign r.(?) p.(=) g.17409072G>T - KCNJ11(NM_000525.3):c.567C>A (p.(=)) - KCNJ11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.584G>A likely benign r.(?) p.(Arg195His) g.17409055C>T - KCNJ11(NM_000525.3):c.584G>A (p.(Arg195His)) - KCNJ11_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 c.601C>T pathogenic r.(?) p.(Arg201Cys) g.17409038G>A - - - KCNJ11_000020 - - RCV000009202 rs80356625 Germline/De novo (untested) - - - 0 - Su Fen Ang
?/. - c.612C>A VUS r.(?) p.(Asp204Glu) g.17409027G>T - KCNJ11(NM_000525,NM_001166290):c.612C>A (p.Asp204Glu) - KCNJ11_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 c.617G>A pathogenic r.(?) p.(Arg206His) g.17409022C>T - - - KCNJ11_000055 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.623G>A VUS r.(?) p.(Ser208Asn) g.17409016C>T - - - KCNJ11_000054 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.623G>C pathogenic r.(?) p.(Ser208Thr) g.17409016C>G - - - KCNJ11_000053 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.636C>T VUS r.(?) p.(Ser212=) g.17409003G>A - - - KCNJ11_000052 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.664A>C VUS r.(?) p.(Lys222Gln) g.17408975T>G - - - KCNJ11_000051 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.730G>A VUS r.(?) p.(Val244Met) g.17408909C>T - KCNJ11(NM_000525.3):c.730G>A (p.V244M) - KCNJ11_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 c.774C>A pathogenic r.(?) p.(Tyr258*) g.17408865G>T - - - KCNJ11_000050 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.775del pathogenic r.(?) p.(His259Metfs*61) g.17408864del - - - KCNJ11_000049 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.778G>C VUS r.(?) p.(Val260Leu) g.17408861C>G - - - KCNJ11_000048 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.794G>T VUS r.(?) p.(Ser265Ile) g.17408845C>A - - - KCNJ11_000047 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
-?/. - c.801C>G likely benign r.(?) p.(=) g.17408838G>C - KCNJ11(NM_000525.3):c.801C>G (p.L267=) - KCNJ11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.801C>G likely benign r.(?) p.(=) g.17408838G>C - KCNJ11(NM_000525.3):c.801C>G (p.L267=) - KCNJ11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.801C>G benign r.(?) p.(=) g.17408838G>C - KCNJ11(NM_000525.3):c.801C>G (p.L267=) - KCNJ11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 c.802T>C VUS r.(?) p.(Tyr268His) g.17408837A>G - - - KCNJ11_000046 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.804C>T VUS r.(?) p.(=) g.17408835G>A - KCNJ11(NM_000525.3):c.804C>T (p.(=)) - KCNJ11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.808C>G benign r.(?) p.(Leu270Val) g.17408831G>C - KCNJ11(NM_000525.3):c.808C>G (p.L270V) - KCNJ11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.808C>G likely benign r.(?) p.(Leu270Val) g.17408831G>C - KCNJ11(NM_000525.3):c.808C>G (p.L270V) - KCNJ11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.808C>G benign r.(?) p.(Leu270Val) g.17408831G>C - KCNJ11(NM_000525.3):c.808C>G (p.L270V) - KCNJ11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.819C>T likely benign r.(?) p.(=) g.17408820G>A - KCNJ11(NM_000525.3):c.819C>T (p.(=)) - KCNJ11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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