All variants in the KCNJ11 gene

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

167 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.-6235C>T r.(?) p.(=) - likely benign g.17415873G>A g.17394326G>A ABCC8(NM_000352.3):c.4485C>T (p.(=)) - ABCC8_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-6222A>G r.(?) p.(=) - VUS g.17415860T>C - ABCC8(NM_001351295.2):c.4564A>G (p.S1522G) - ABCC8_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-6205C>T r.(?) p.(=) - likely benign g.17415843G>A - ABCC8(NM_000352.3):c.4515C>T (p.(=)) - ABCC8_000533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-6178C>A r.(?) p.(=) - likely benign g.17415816G>T g.17394269G>T ABCC8(NM_000352.3):c.4542C>A (p.(Ala1514=)) - ABCC8_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-6176C>T r.(?) p.(=) - VUS g.17415814G>A g.17394267G>A ABCC8(NM_000352.3):c.4544C>T (p.(Thr1515Met)) - ABCC8_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-6162C>T r.(?) p.(=) - likely benign g.17415800G>A - ABCC8(NM_000352.3):c.4545+13C>T (p.(=)) - ABCC8_000532 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-6161C>T r.(?) p.(=) - likely benign g.17415799G>A - ABCC8(NM_000352.3):c.4545+14C>T (p.(=)) - ABCC8_000531 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-5651G>T r.(?) p.(=) - likely benign g.17415289C>A g.17393742C>A ABCC8(NM_000352.3):c.4563G>T (p.(Lys1521Asn)) - ABCC8_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-5606G>A r.(?) p.(=) - VUS g.17415244C>T - ABCC8(NM_000352.3):c.4608G>A (p.(Ala1536=)), ABCC8(NM_001351295.2):c.4674G>A (p.A1558=) - ABCC8_000517 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-5606G>A r.(?) p.(=) - likely benign g.17415244C>T - ABCC8(NM_000352.3):c.4608G>A (p.(Ala1536=)), ABCC8(NM_001351295.2):c.4674G>A (p.A1558=) - ABCC8_000517 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-5052T>A r.(?) p.(=) - likely benign g.17414690A>T g.17393143A>T ABCC8(NM_000352.3):c.4609-15T>A (p.(=)) - ABCC8_000421 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-5049T>A r.(?) p.(=) - likely benign g.17414687A>T g.17393140A>T ABCC8(NM_000352.3):c.4609-12T>A (p.(=)) - ABCC8_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-5044T>A r.(?) p.(=) - benign g.17414682A>T - ABCC8(NM_000352.3):c.4609-7T>A (p.(=)) - ABCC8_000530 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-5022A>T r.(?) p.(=) - VUS g.17414660T>A g.17393113T>A ABCC8(NM_000352.3):c.4624A>T (p.(Ile1542Phe)) - ABCC8_000419 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-4999C>T r.(?) p.(=) - likely benign g.17414637G>A - ABCC8(NM_000352.3):c.4647C>T (p.(=)) - ABCC8_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-4990G>A r.(?) p.(=) - likely benign g.17414628C>T g.17393081C>T ABCC8(NM_000352.3):c.4656G>A (p.(Lys1552=)) - ABCC8_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-4943G>A r.(?) p.(=) - likely benign g.17414581C>T g.17393034C>T ABCC8(NM_000352.3):c.4703G>A (p.(Arg1568Gln)) - ABCC8_000417 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-4927C>T r.(?) p.(=) - likely benign g.17414565G>A g.17393018G>A ABCC8(NM_000352.3):c.4719C>T (p.(=)) - ABCC8_000415 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-4918C>T r.(?) p.(=) - benign g.17414556G>A g.17393009G>A ABCC8(NM_000352.3):c.4728C>T (p.(=)) - ABCC8_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-4917G>A r.(?) p.(=) - VUS g.17414555C>T g.17393008C>T ABCC8(NM_000352.3):c.4729G>A (p.(Val1577Ile)) - ABCC8_000414 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 c.10C>T r.(?) p.(Arg4Cys) - pathogenic g.17409629G>A g.17388082G>A - - KCNJ11_000102 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.11G>A r.(?) p.(Arg4His) - VUS g.17409628C>T g.17388081C>T - - KCNJ11_000101 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.11G>A r.(?) p.(Arg4His) - VUS g.17409628C>T - KCNJ11(NM_000525.3):c.11G>A (p.(Arg4His)) - KCNJ11_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.15G>C r.(?) p.(Lys5Asn) - VUS g.17409624C>G - KCNJ11(NM_000525.3):c.15G>C (p.(Lys5Asn)) - ABCC8_000528 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.37G>A r.(?) p.(Val13Met) - likely benign g.17409602C>T - KCNJ11(NM_000525.3):c.37G>A (p.(Val13Met)) - ABCC8_000527 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 c.50T>C r.(?) p.(Leu17Pro) - pathogenic g.17409589A>G g.17388042A>G - - KCNJ11_000100 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
-/. - c.67A>G r.(?) p.(Lys23Glu) - benign g.17409572T>C g.17388025T>C KCNJ11(NM_000525.3):c.67A>G (p.K23E) - KCNJ11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.67A>G r.(?) p.(Lys23Glu) - VUS g.17409572T>C g.17388025T>C KCNJ11(NM_000525.3):c.67A>G (p.K23E) - KCNJ11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.78C>A r.(?) p.(Tyr26*) - pathogenic g.17409561G>T g.17388014G>T - - KCNJ11_000099 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.79C>T r.(?) p.(Arg27Cys) - pathogenic g.17409560G>A g.17388013G>A - - KCNJ11_000098 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.92G>T r.(?) p.(Arg31Leu) - VUS g.17409547C>A g.17388000C>A KCNJ11(NM_000525.3):c.92G>T (p.(Arg31Leu)) - ABCC8_000412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.108G>A r.(?) p.(Val36=) - likely benign g.17409531C>T g.17387984C>T KCNJ11(NM_000525.3):c.108G>A (p.(=)) - KCNJ11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 1 c.112A>G r.(?) p.(Lys38Glu) - pathogenic g.17409527T>C g.17387980T>C - - KCNJ11_000097 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.119G>C r.(?) p.(Gly40Ala) - pathogenic g.17409520C>G g.17387973C>G - - KCNJ11_000096 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.125G>A r.(?) p.(Cys42Tyr) - VUS g.17409514C>T g.17387967C>T - - KCNJ11_000095 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.130G>A r.(?) p.(Val44Met) - VUS g.17409509C>T g.17387962C>T - - KCNJ11_000094 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.130G>A r.(?) p.(Val44Met) - VUS g.17409509C>T - KCNJ11(NM_000525.3):c.130G>A (p.(Val44Met)) - KCNJ11_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 c.133G>T r.(?) p.(Ala45Ser) - VUS g.17409506C>A g.17387959C>A - - KCNJ11_000093 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.145A>T r.(?) p.(Ile49Phe) - pathogenic g.17409494T>A g.17387947T>A - - KCNJ11_000092 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.148C>T r.(?) p.(Arg50Trp) - VUS g.17409491G>A g.17387944G>A - - KCNJ11_000015 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.152A>G r.(?) p.(Glu51Gly) - pathogenic g.17409487T>C g.17387940T>C - - KCNJ11_000091 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.155A>C r.(?) p.(Gln52Pro) - VUS g.17409484T>G g.17387937T>G - - KCNJ11_000090 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.160C>T r.(?) p.(Arg54Cys) - pathogenic g.17409479G>A g.17387932G>A - - KCNJ11_000089 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.166_167delinsGG r.(?) p.(Leu56Gly) - pathogenic g.17409472_17409473delinsCC g.17387925_17387926delinsCC - - KCNJ11_000088 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.173A>T r.(?) p.(Asp58Val) - VUS g.17409466T>A g.17387919T>A - - KCNJ11_000087 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.179T>C r.(?) p.(Phe60Ser) - VUS g.17409460A>G g.17387913A>G - - KCNJ11_000086 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.185del r.(?) p.(Thr62Serfs*68) - pathogenic g.17409454del g.17387907del - - KCNJ11_000085 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
-?/. - c.186G>A r.(?) p.(Thr62=) - likely benign g.17409453C>T g.17387906C>T - - ABCC8_000493 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.240del r.(?) p.(Cys81Alafs*49) - pathogenic g.17409399del g.17387852del - - KCNJ11_000084 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.251T>G r.(?) p.(Leu84Arg) - VUS g.17409388A>C g.17387841A>C - - KCNJ11_000083 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.280G>A r.(?) p.(Ala94Thr) - VUS g.17409359C>T - KCNJ11(NM_000525.3):c.280G>A (p.(Ala94Thr)) - KCNJ11_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 c.287C>T r.(?) p.(Ala96Val) - VUS g.17409352G>A g.17387805G>A - - KCNJ11_000082 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.287C>T r.(?) p.(Ala96Val) - VUS g.17409352G>A g.17387805G>A - - KCNJ11_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 c.289C>T r.(?) p.(His97Tyr) - VUS g.17409350G>A g.17387803G>A - - KCNJ11_000081 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.290A>G r.(?) p.(His97Arg) - VUS g.17409349T>C g.17387802T>C - - KCNJ11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1 c.295G>T r.(?) p.(Asp99Tyr) - pathogenic g.17409344C>A g.17387797C>A - - KCNJ11_000080 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.302C>A r.(?) p.(Ala101Asp) - VUS g.17409337G>T - KCNJ11(NM_000525.3):c.302C>A (p.(Ala101Asp)) - KCNJ11_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.309C>T r.(?) p.(Ser103=) - likely benign g.17409330G>A g.17387783G>A KCNJ11(NM_000525.3):c.309C>T (p.(=)) - KCNJ11_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.337A>G r.(?) p.(Ser113Gly) - likely benign g.17409302T>C - KCNJ11(NM_000525.3):c.337A>G (p.(Ser113Gly)) - KCNJ11_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 c.341T>C r.(?) p.(Ile114Thr) - VUS g.17409298A>G g.17387751A>G - - KCNJ11_000079 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.344A>T r.(?) p.(His115Leu) - VUS g.17409295T>A g.17387748T>A - - KCNJ11_000078 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.353C>T r.(?) p.(Ser118Leu) - VUS g.17409286G>A g.17387739G>A - - KCNJ11_000077 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.356dup r.(?) p.(Ala120Cysfs*7) - pathogenic g.17409283dup g.17387736dup - - KCNJ11_000076 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.362T>C r.(?) p.(Phe121Ser) - VUS g.17409277A>G g.17387730A>G - - KCNJ11_000075 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.385G>A r.(?) p.(Val129Met) - VUS g.17409254C>T g.17387707C>T - - KCNJ11_000074 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.390_393dup r.(?) p.(Gly132Tyrfs*10) - pathogenic g.17409246_17409249dup g.17387699_17387702dup - - KCNJ11_000072 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.391A>G r.(?) p.(Ile131Val) - VUS g.17409248T>C g.17387701T>C - - KCNJ11_000073 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.391_393dup r.(?) p.(Ile131dup) - VUS g.17409247_17409249dup g.17387700_17387702dup - - KCNJ11_000071 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.415A>C r.(?) p.(Thr139Pro) - VUS g.17409224T>G g.17387677T>G - - KCNJ11_000070 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.418G>A r.(?) p.(Glu140Lys) - VUS g.17409221C>T g.17387674C>T - - KCNJ11_000069 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.425G>A r.(?) p.(Cys142Tyr) - VUS g.17409214C>T g.17387667C>T - - KCNJ11_000068 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+?/. - c.426C>G r.(?) p.(Cys142Trp) - likely pathogenic g.17409213G>C - - - KCNJ11_000118 - - - - Germline - - - - - Sha Hong
-?/. - c.459C>T r.(?) p.(Asn153=) - likely benign g.17409180G>A - KCNJ11(NM_000525.3):c.459C>T (p.(=)) - KCNJ11_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 c.463G>A r.(?) p.(Val155Met) - VUS g.17409176C>T g.17387629C>T - - KCNJ11_000067 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.463G>T r.(?) p.(Val155Leu) - VUS g.17409176C>A g.17387629C>A - - KCNJ11_000066 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.469C>G r.(?) p.(Leu157Val) - VUS g.17409170G>C g.17387623G>C - - KCNJ11_000065 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. - c.475A>G r.(?) p.(Ile159Val) - VUS g.17409164T>C - KCNJ11(NM_000525.3):c.475A>G (p.(Ile159Val)) - KCNJ11_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 c.480C>G r.(?) p.(Asn160Lys) - VUS g.17409159G>C g.17387612G>C - - KCNJ11_000064 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.490C>T r.(?) p.(Leu164Phe) - VUS g.17409149G>A g.17387602G>A - - KCNJ11_000063 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.498C>G r.(?) p.(Cys166Trp) - pathogenic g.17409141G>C g.17387594G>C - - KCNJ11_000062 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.499A>G r.(?) p.(Ile167Val) - VUS g.17409140T>C g.17387593T>C - - KCNJ11_000061 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.506T>C r.(?) p.(Met169Thr) - pathogenic g.17409133A>G g.17387586A>G - - KCNJ11_000060 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.512C>A r.(?) p.(Thr171Asn) - VUS g.17409127G>T g.17387580G>T - - KCNJ11_000059 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+?/. - c.515C>G r.(?) p.(Ala172Gly) - likely pathogenic g.17409124G>C - KCNJ11(NM_000525.3):c.515C>G (p.(Ala172Gly)) - KCNJ11_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.527G>A r.(?) p.(Arg176His) - VUS g.17409112C>T g.17387565C>T KCNJ11(NM_000525.3):c.527G>A (p.(Arg176His)) - KCNJ11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.527G>T r.(?) p.(Arg176Leu) - likely pathogenic g.17409112C>A - - - KCNJ11_000117 - - - - Germline - - - - - Sha Hong
+/. 1 c.532del r.(?) p.(Ala178Leufs*11) - pathogenic g.17409109del g.17387562del - - KCNJ11_000058 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
+/. 1 c.535G>A r.(?) p.(Glu179Lys) - pathogenic g.17409104C>T g.17387557C>T - - KCNJ11_000057 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.539C>T r.(?) p.(Thr180Ile) - VUS g.17409100G>A g.17387553G>A - - KCNJ11_000056 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.539C>T r.(?) p.(Thr180Ile) ACMG VUS g.17409100G>A - - - KCNJ11_000056 - - - - Germline - - - - - Cécile Saint-Martin
?/. - c.560C>T r.(?) p.(Ala187Val) - VUS g.17409079G>A - - - KCNJ11_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.561G>A r.(?) p.(Ala187=) - likely benign g.17409078C>T - KCNJ11(NM_000525.3):c.561G>A (p.(=)) - KCNJ11_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.567C>T r.(?) p.(Ile189=) - likely benign g.17409072G>A - KCNJ11(NM_000525.3):c.567C>T (p.(=)) - KCNJ11_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.570C>T r.(?) p.(Ala190=) - VUS g.17409069G>A g.17387522G>A - - KCNJ11_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.584G>A r.(?) p.(Arg195His) - likely benign g.17409055C>T g.17387508C>T KCNJ11(NM_000525.3):c.584G>A (p.(Arg195His)) - KCNJ11_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 c.601C>T r.(?) p.(Arg201Cys) - pathogenic g.17409038G>A g.17387491G>A - - KCNJ11_000020 - - ClinVar-RCV000009202 rs80356625 Germline/De novo (untested) - - - 0 - Su Fen Ang
+/. - c.602G>A r.(?) p.(Arg201His) - pathogenic g.17409037C>T g.17387490C>T - - KCNJ11_000115 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80356624 Germline - 1/2794 individuals - 0 - Mohammed Faruq
+/. - c.602G>A r.(?) p.(Arg201His) - pathogenic g.17409037C>T - - - KCNJ11_000115 - - - - De novo - - - 0 - Sha Hong
?/. - c.612C>A r.(?) p.(Asp204Glu) - VUS g.17409027G>T g.17387480G>T - - KCNJ11_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.617G>A r.(?) p.(Arg206His) - pathogenic g.17409022C>T g.17387475C>T - - KCNJ11_000055 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
Legend   How to query   « First ‹ Prev     1 2     Next › Last »