Unique variants in gene KCNJ11

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

111 entries on 2 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.-6178C>A r.(?) p.(=) - likely benign g.17415816G>T g.17394269G>T ABCC8(NM_000352.3):c.4542C>A (p.(=)) - ABCC8_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.-5552G>C r.(?) p.(=) - benign g.17415190C>G g.17393643C>G ABCC8(NM_001287174.1):c.4611+54G>C - ABCC8_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-5077A>G r.(?) p.(=) - benign g.17414715T>C g.17393168T>C ABCC8(NM_001287174.1):c.4612-40A>G - ABCC8_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-4990G>A r.(?) p.(=) - likely benign g.17414628C>T g.17393081C>T ABCC8(NM_000352.3):c.4656G>A (p.(=)) - ABCC8_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 1 c.10C>T r.(?) p.(Arg4Cys) - pathogenic g.17409629G>A g.17388082G>A - - KCNJ11_000102 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.11G>A r.(?) p.(Arg4His) - VUS g.17409628C>T g.17388081C>T - - KCNJ11_000101 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.50T>C r.(?) p.(Leu17Pro) - pathogenic g.17409589A>G g.17388042A>G - - KCNJ11_000100 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/., -/. 2 - c.67A>G r.(?) p.(Lys23Glu) - VUS, 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 1 1 c.78C>A r.(?) p.(Tyr26*) - pathogenic g.17409561G>T g.17388014G>T - - KCNJ11_000099 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.79C>T r.(?) p.(Arg27Cys) - pathogenic g.17409560G>A g.17388013G>A - - KCNJ11_000098 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.112A>G r.(?) p.(Lys38Glu) - pathogenic g.17409527T>C g.17387980T>C - - KCNJ11_000097 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.119G>C r.(?) p.(Gly40Ala) - pathogenic g.17409520C>G g.17387973C>G - - KCNJ11_000096 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.125G>A r.(?) p.(Cys42Tyr) - VUS g.17409514C>T g.17387967C>T - - KCNJ11_000095 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.130G>A r.(?) p.(Val44Met) - VUS g.17409509C>T g.17387962C>T - - KCNJ11_000094 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.133G>T r.(?) p.(Ala45Ser) - VUS g.17409506C>A g.17387959C>A - - KCNJ11_000093 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.145A>T r.(?) p.(Ile49Phe) - pathogenic g.17409494T>A g.17387947T>A - - KCNJ11_000092 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.148C>T r.(?) p.(Arg50Trp) - VUS g.17409491G>A g.17387944G>A - - KCNJ11_000015 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.152A>G r.(?) p.(Glu51Gly) - pathogenic g.17409487T>C g.17387940T>C - - KCNJ11_000091 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.155A>C r.(?) p.(Gln52Pro) - VUS g.17409484T>G g.17387937T>G - - KCNJ11_000090 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.160C>T r.(?) p.(Arg54Cys) - pathogenic g.17409479G>A g.17387932G>A - - KCNJ11_000089 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.166_167delinsGG r.(?) p.(Leu56Gly) - pathogenic g.17409472_17409473delinsCC g.17387925_17387926delinsCC - - KCNJ11_000088 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.173A>T r.(?) p.(Asp58Val) - VUS g.17409466T>A g.17387919T>A - - KCNJ11_000087 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.179T>C r.(?) p.(Phe60Ser) - VUS g.17409460A>G g.17387913A>G - - KCNJ11_000086 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.185del r.(?) p.(Thr62Serfs*68) - pathogenic g.17409454del g.17387907del - - KCNJ11_000085 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-?/. 1 - 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 1 c.240del r.(?) p.(Cys81Alafs*49) - pathogenic g.17409399del g.17387852del - - KCNJ11_000084 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.251T>G r.(?) p.(Leu84Arg) - VUS g.17409388A>C g.17387841A>C - - KCNJ11_000083 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 2 1 c.287C>T r.(?) p.(Ala96Val) - VUS g.17409352G>A g.17387805G>A - - KCNJ11_000082 VKGL data sharing initiative Nederland De Franco et al 2019, submitted - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Thomas Laver
?/. 1 1 c.289C>T r.(?) p.(His97Tyr) - VUS g.17409350G>A g.17387803G>A - - KCNJ11_000081 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 - c.290A>G r.(?) p.(His97Arg) - VUS g.17409349T>C g.17387802T>C - - KCNJ11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.295G>T r.(?) p.(Asp99Tyr) - pathogenic g.17409344C>A g.17387797C>A - - KCNJ11_000080 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.341T>C r.(?) p.(Ile114Thr) - VUS g.17409298A>G g.17387751A>G - - KCNJ11_000079 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.344A>T r.(?) p.(His115Leu) - VUS g.17409295T>A g.17387748T>A - - KCNJ11_000078 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.353C>T r.(?) p.(Ser118Leu) - VUS g.17409286G>A g.17387739G>A - - KCNJ11_000077 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.356dup r.(?) p.(Ala120Cysfs*7) - pathogenic g.17409283dup g.17387736dup - - KCNJ11_000076 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.362T>C r.(?) p.(Phe121Ser) - VUS g.17409277A>G g.17387730A>G - - KCNJ11_000075 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.385G>A r.(?) p.(Val129Met) - VUS g.17409254C>T g.17387707C>T - - KCNJ11_000074 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.390_393dup r.(?) p.(Gly132Tyrfs*10) - pathogenic g.17409246_17409249dup g.17387699_17387702dup - - KCNJ11_000072 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.391A>G r.(?) p.(Ile131Val) - VUS g.17409248T>C g.17387701T>C - - KCNJ11_000073 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.391_393dup r.(?) p.(Ile131dup) - VUS g.17409247_17409249dup g.17387700_17387702dup - - KCNJ11_000071 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.415A>C r.(?) p.(Thr139Pro) - VUS g.17409224T>G g.17387677T>G - - KCNJ11_000070 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.418G>A r.(?) p.(Glu140Lys) - VUS g.17409221C>T g.17387674C>T - - KCNJ11_000069 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.425G>A r.(?) p.(Cys142Tyr) - VUS g.17409214C>T g.17387667C>T - - KCNJ11_000068 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+?/. 1 - c.426C>G r.(?) p.(Cys142Trp) - likely pathogenic g.17409213G>C - - - KCNJ11_000118 - - - - Germline - - - - - Sha Hong
?/. 1 1 c.463G>A r.(?) p.(Val155Met) - VUS g.17409176C>T g.17387629C>T - - KCNJ11_000067 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.463G>T r.(?) p.(Val155Leu) - VUS g.17409176C>A g.17387629C>A - - KCNJ11_000066 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.469C>G r.(?) p.(Leu157Val) - VUS g.17409170G>C g.17387623G>C - - KCNJ11_000065 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.480C>G r.(?) p.(Asn160Lys) - VUS g.17409159G>C g.17387612G>C - - KCNJ11_000064 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.490C>T r.(?) p.(Leu164Phe) - VUS g.17409149G>A g.17387602G>A - - KCNJ11_000063 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.498C>G r.(?) p.(Cys166Trp) - pathogenic g.17409141G>C g.17387594G>C - - KCNJ11_000062 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.499A>G r.(?) p.(Ile167Val) - VUS g.17409140T>C g.17387593T>C - - KCNJ11_000061 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.506T>C r.(?) p.(Met169Thr) - pathogenic g.17409133A>G g.17387586A>G - - KCNJ11_000060 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.512C>A r.(?) p.(Thr171Asn) - VUS g.17409127G>T g.17387580G>T - - KCNJ11_000059 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 - 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 - - - - - VKGL-NL_Leiden
+?/. 1 - c.527G>T r.(?) p.(Arg176Leu) - likely pathogenic g.17409112C>A - - - KCNJ11_000117 - - - - Germline - - - - - Sha Hong
+/. 1 1 c.532del r.(?) p.(Ala178Leufs*11) - pathogenic g.17409109del g.17387562del - - KCNJ11_000058 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.535G>A r.(?) p.(Glu179Lys) - pathogenic g.17409104C>T g.17387557C>T - - KCNJ11_000057 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.539C>T r.(?) p.(Thr180Ile) - VUS g.17409100G>A g.17387553G>A - - KCNJ11_000056 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 - c.560C>T r.(?) p.(Ala187Val) - - g.17409079G>A - - - KCNJ11_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - 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
+/. 1 1 c.601C>T r.(?) p.(Arg201Cys) - pathogenic g.17409038G>A g.17387491G>A - - KCNJ11_000020 - - RCV000009202 rs80356625 Germline/De novo (untested) - - - - - Su Fen Ang
+/. 2 - c.602G>A r.(?) p.(Arg201His) - pathogenic g.17409037C>T g.17387490C>T - - KCNJ11_000115 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80356624 Germline, De novo - 1/2794 individuals - - - Mohammed Faruq, Sha Hong
?/. 1 - 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 1 c.617G>A r.(?) p.(Arg206His) - pathogenic g.17409022C>T g.17387475C>T - - KCNJ11_000055 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.623G>A r.(?) p.(Ser208Asn) - VUS g.17409016C>T g.17387469C>T - - KCNJ11_000054 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.623G>C r.(?) p.(Ser208Thr) - pathogenic g.17409016C>G g.17387469C>G - - KCNJ11_000053 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.636C>T r.(?) p.(Ser212=) - VUS g.17409003G>A g.17387456G>A - - KCNJ11_000052 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.664A>C r.(?) p.(Lys222Gln) - VUS g.17408975T>G g.17387428T>G - - KCNJ11_000051 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 - c.730G>A r.(?) p.(Val244Met) - VUS g.17408909C>T g.17387362C>T KCNJ11(NM_000525.3):c.730G>A (p.V244M) - KCNJ11_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 1 c.774C>A r.(?) p.(Tyr258*) - pathogenic g.17408865G>T g.17387318G>T - - KCNJ11_000050 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.775del r.(?) p.(His259Metfs*61) - pathogenic g.17408865del g.17387318del - - KCNJ11_000049 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.778G>C r.(?) p.(Val260Leu) - VUS g.17408861C>G g.17387314C>G - - KCNJ11_000048 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.794G>T r.(?) p.(Ser265Ile) - VUS g.17408845C>A g.17387298C>A - - KCNJ11_000047 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-?/., -/. 4 - c.801C>G r.(?) p.(Leu267=) - likely benign, benign g.17408838G>C g.17387291G>C KCNJ11(NM_000525.3):c.801C>G (p.L267=, p.(=)) - KCNJ11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 1 c.802T>C r.(?) p.(Tyr268His) - VUS g.17408837A>G g.17387290A>G - - KCNJ11_000046 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 - c.804C>T r.(?) p.(Tyr268=) - VUS g.17408835G>A g.17387288G>A KCNJ11(NM_000525.3):c.804C>T (p.(=)) - KCNJ11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 4 - c.808C>G r.(?) p.(Leu270Val) - benign, likely benign g.17408831G>C g.17387284G>C KCNJ11(NM_000525.3):c.808C>G (p.(Leu270Val), p.L270V) - KCNJ11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_Groningen
?/. 1 1 c.820G>C r.(?) p.(Asp274His) - VUS g.17408819C>G g.17387272C>G - - KCNJ11_000045 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.835C>T r.(?) p.(Gln279*) - pathogenic g.17408804G>A g.17387257G>A - - KCNJ11_000044 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-?/. 1 - c.843C>T r.(?) p.(Leu281=) - likely benign g.17408796G>A g.17387249G>A KCNJ11(NM_000525.3):c.843C>T (p.L281=) - KCNJ11_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 1 c.860T>C r.(?) p.(Leu287Pro) - VUS g.17408779A>G g.17387232A>G - - KCNJ11_000043 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.866G>C r.(?) p.(Gly289Ala) - pathogenic g.17408773C>G g.17387226C>G - - KCNJ11_000042 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.883G>A r.(?) p.(Gly295Ser) - pathogenic g.17408756C>T g.17387209C>T - - KCNJ11_000041 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.890C>A r.(?) p.(Thr297Asn) - VUS g.17408749G>T g.17387202G>T - - KCNJ11_000040 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.896A>G r.(?) p.(Gln299Arg) - VUS g.17408743T>C g.17387196T>C - - KCNJ11_000039 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.899C>A r.(?) p.(Ala300Asp) - VUS g.17408740G>T g.17387193G>T - - KCNJ11_000038 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 - c.902G>A r.(?) p.(Arg301His) - pathogenic g.17408737C>T g.17387190C>T - - KCNJ11_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 1 c.929T>C r.(?) p.(Leu310Pro) - VUS g.17408710A>G g.17387163A>G - - KCNJ11_000037 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.952A>G r.(?) p.(Ile318Val) - VUS g.17408687T>C g.17387140T>C - - KCNJ11_000036 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 - c.964G>A r.(?) p.(Glu322Lys) - pathogenic g.17408675C>T g.17387128C>T - - KCNJ11_000007 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs193929355 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 2 1 c.973C>A r.(?) p.(Arg325Ser) - VUS g.17408666G>T g.17387119G>T KCNJ11(NM_000525.3):c.973C>A (p.(Arg325Ser)) - KCNJ11_000006 VKGL data sharing initiative Nederland De Franco et al 2019, submitted - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Thomas Laver
?/. 1 1 c.974G>A r.(?) p.(Arg325His) - VUS g.17408665C>T g.17387118C>T - - KCNJ11_000035 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 - c.974G>C r.(?) p.(Arg325Pro) - VUS g.17408665C>G g.17387118C>G - - KCNJ11_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.982G>A r.(?) p.(Val328Met) - pathogenic g.17408657C>T g.17387110C>T - - KCNJ11_000034 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.988T>A r.(?) p.(Tyr330Asn) - pathogenic g.17408651A>T g.17387104A>T - - KCNJ11_000032 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.988T>C r.(?) p.(Tyr330His) - pathogenic g.17408651A>G g.17387104A>G - - KCNJ11_000033 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.991T>C r.(?) p.(Ser331Pro) - pathogenic g.17408648A>G g.17387101A>G - - KCNJ11_000031 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.1000G>A r.(?) p.(Gly334Ser) - pathogenic g.17408639C>T g.17387092C>T - - KCNJ11_000029 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.1000G>C r.(?) p.(Gly334Arg) - pathogenic g.17408639C>G g.17387092C>G - - KCNJ11_000030 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.1006A>G r.(?) p.(Thr336Ala) - VUS g.17408633T>C g.17387086T>C - - KCNJ11_000028 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
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