| KCNJ1, 1-BP INS, CODON 15 |
insertion |
Bartter syndrome antenatal type 2 [RCV000009724]|Bartter syndrome, type 2, antenatal [RCV000009724] |
Chr11:11q24 |
pathogenic |
| KCNJ1, TRP58TER |
variation |
Bartter syndrome antenatal type 2 [RCV000009726]|Bartter syndrome, type 2, antenatal [RCV000009726] |
Chr11:11q24 |
pathogenic |
| NM_153767.3(KCNJ1):c.180C>G (p.Tyr60Ter) |
single nucleotide variant |
Bartter syndrome antenatal type 2 [RCV000009723]|Bartter syndrome, type 2, antenatal [RCV000009723] |
Chr11:128840064 [GRCh38]
Chr11:128709959 [GRCh37]
Chr11:11q24.3 |
pathogenic |
| NM_153767.3(KCNJ1):c.600C>G (p.Ser200Arg) |
single nucleotide variant |
Bartter syndrome antenatal type 2 [RCV000009725]|Bartter syndrome, type 2, antenatal [RCV000009725] |
Chr11:128839644 [GRCh38]
Chr11:128709539 [GRCh37]
Chr11:11q24.3 |
pathogenic |
| NM_153767.3(KCNJ1):c.584C>T (p.Ala195Val) |
single nucleotide variant |
Bartter syndrome antenatal type 2 [RCV000009727]|Bartter syndrome, type 2, antenatal [RCV000009727] |
Chr11:128839660 [GRCh38]
Chr11:128709555 [GRCh37]
Chr11:11q24.3 |
pathogenic |
| NM_153767.3(KCNJ1):c.1013T>C (p.Met338Thr) |
single nucleotide variant |
Bartter syndrome antenatal type 2 [RCV000009728]|Bartter syndrome, type 2, antenatal [RCV000009728]|not provided [RCV000224891]|not specified [RCV000202885] |
Chr11:128839231 [GRCh38]
Chr11:128709126 [GRCh37]
Chr11:11q24.3 |
pathogenic|benign |
| NM_153767.3(KCNJ1):c.535G>A (p.Ala179Thr) |
single nucleotide variant |
Bartter syndrome antenatal type 2 [RCV000009729]|Bartter syndrome, type 2, antenatal [RCV000009729] |
Chr11:128839709 [GRCh38]
Chr11:128709604 [GRCh37]
Chr11:11q24.3 |
pathogenic |
| NM_153767.3(KCNJ1):c.443G>A (p.Gly148Glu) |
single nucleotide variant |
Bartter syndrome antenatal type 2 [RCV000009730]|Bartter syndrome, type 2, antenatal [RCV000009730] |
Chr11:128839801 [GRCh38]
Chr11:128709696 [GRCh37]
Chr11:11q24.3 |
pathogenic |
| NM_153767.3(KCNJ1):c.265G>C (p.Asp89His) |
single nucleotide variant |
Bartter syndrome antenatal type 2 [RCV000009731]|Bartter syndrome, type 2, antenatal [RCV000009731] |
Chr11:128839979 [GRCh38]
Chr11:128709874 [GRCh37]
Chr11:11q24.3 |
pathogenic |
| NM_153767.3(KCNJ1):c.315T>A (p.Asn105Lys) |
single nucleotide variant |
Bartter syndrome antenatal type 2 [RCV000009732]|Bartter syndrome, type 2, antenatal [RCV000009732] |
Chr11:128839929 [GRCh38]
Chr11:128709824 [GRCh37]
Chr11:11q24.3 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 |
copy number gain |
Pneumonia [RCV000050331]|See cases [RCV000050331] |
Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25 |
pathogenic |
| GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1 |
copy number loss |
Failure to thrive [RCV000050843]|See cases [RCV000050843] |
Chr11:127604660..134998454 [GRCh38]
Chr11:127474555..134868348 [GRCh37]
Chr11:126979765..134373558 [NCBI36]
Chr11:11q24.2-25 |
pathogenic |
| GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 |
copy number loss |
Thrombocytopenia [RCV000050865]|See cases [RCV000050865] |
Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 |
copy number loss |
Single ventricular heart [RCV000050905]|See cases [RCV000050905] |
Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25 |
pathogenic |
| GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050926]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050926]|See cases [RCV000050926] |
Chr11:125891315..129072391 [GRCh38]
Chr11:125761210..128942286 [GRCh37]
Chr11:125266420..128447496 [NCBI36]
Chr11:11q24.2-24.3 |
pathogenic |
| GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3 |
copy number gain |
Respiratory distress [RCV000051162]|See cases [RCV000051162] |
Chr11:126445805..134998513 [GRCh38]
Chr11:126315700..134868407 [GRCh37]
Chr11:125820910..134373617 [NCBI36]
Chr11:11q24.2-25 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051213]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051213]|See cases [RCV000051213] |
Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052715]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052715]|See cases [RCV000052715] |
Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052716]|See cases [RCV000052716] |
Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25 |
pathogenic |
| GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052741]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052741]|See cases [RCV000052741] |
Chr11:126433740..135040246 [GRCh38]
Chr11:126303635..134910140 [GRCh37]
Chr11:125808845..134415350 [NCBI36]
Chr11:11q24.2-25 |
pathogenic |
| GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053638]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053638]|See cases [RCV000053638] |
Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 |
copy number gain |
Global developmental delay [RCV000053643]|See cases [RCV000053643] |
Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25 |
pathogenic |
| GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] |
Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25 |
pathogenic |
| NM_153767.3(KCNJ1):c.*5G>A |
single nucleotide variant |
not provided [RCV000054574] |
Chr11:128839120 [GRCh38]
Chr11:128709015 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.1027G>A (p.Glu343Lys) |
single nucleotide variant |
not provided [RCV000054575] |
Chr11:128839217 [GRCh38]
Chr11:128709112 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.1028A>C (p.Glu343Ala) |
single nucleotide variant |
not provided [RCV000054576] |
Chr11:128839216 [GRCh38]
Chr11:128709111 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.98A>C (p.Glu33Ala) |
single nucleotide variant |
not provided [RCV000054577] |
Chr11:128840146 [GRCh38]
Chr11:128710041 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.242A>G (p.Tyr81Cys) |
single nucleotide variant |
not provided [RCV000054578] |
Chr11:128840002 [GRCh38]
Chr11:128709897 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.262A>G (p.Lys88Glu) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000356282]|not provided [RCV000054579] |
Chr11:128839982 [GRCh38]
Chr11:128709877 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.719A>C (p.Asn240Thr) |
single nucleotide variant |
not provided [RCV000054580] |
Chr11:128839525 [GRCh38]
Chr11:128709420 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.625G>A (p.Gly209Arg) |
single nucleotide variant |
Malignant melanoma [RCV000069242] |
Chr11:128839619 [GRCh38]
Chr11:128709514 [GRCh37]
Chr11:128214724 [NCBI36]
Chr11:11q24.3 |
not provided |
| GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1 |
copy number loss |
See cases [RCV000663397] |
Chr11:125937383..134934063 [GRCh37]
Chr11:11q24.2-25 |
pathogenic |
| NM_153767.3(KCNJ1):c.-191-6974G>C |
single nucleotide variant |
Lung cancer [RCV000109779] |
Chr11:128857864 [GRCh38]
Chr11:128727759 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.1094A>T (p.Asn365Ile) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149361] |
Chr11:128839150 [GRCh38]
Chr11:128709045 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 |
copy number loss |
See cases [RCV000134731] |
Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25 |
pathogenic |
| GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 |
copy number loss |
See cases [RCV000134708] |
Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 |
copy number gain |
See cases [RCV000134064] |
Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25 |
pathogenic |
| GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1 |
copy number loss |
See cases [RCV000136595] |
Chr11:126046358..134998513 [GRCh38]
Chr11:125916253..134868407 [GRCh37]
Chr11:125421463..134373617 [NCBI36]
Chr11:11q24.2-25 |
pathogenic |
| GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1 |
copy number loss |
See cases [RCV000136612] |
Chr11:125241472..134998513 [GRCh38]
Chr11:125111368..134868407 [GRCh37]
Chr11:124616578..134373617 [NCBI36]
Chr11:11q24.2-25 |
pathogenic |
| GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 |
copy number gain |
See cases [RCV000137582] |
Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 |
copy number gain |
See cases [RCV000137453] |
Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1 |
copy number loss |
See cases [RCV000137719] |
Chr11:127564482..135075271 [GRCh38]
Chr11:127434377..134945165 [GRCh37]
Chr11:126939587..134450377 [NCBI36]
Chr11:11q24.2-25 |
pathogenic|likely benign |
| GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 |
copy number loss |
See cases [RCV000138014] |
Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25 |
pathogenic |
| GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1 |
copy number loss |
See cases [RCV000138163] |
Chr11:126046358..135075271 [GRCh38]
Chr11:125916253..134945165 [GRCh37]
Chr11:125421463..134450377 [NCBI36]
Chr11:11q24.2-25 |
pathogenic |
| GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1 |
copy number loss |
See cases [RCV000138675] |
Chr11:124940059..135075271 [GRCh38]
Chr11:124809955..134945165 [GRCh37]
Chr11:124315165..134450377 [NCBI36]
Chr11:11q24.2-25 |
pathogenic|likely benign |
| GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 |
copy number loss |
See cases [RCV000138373] |
Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 |
copy number gain |
See cases [RCV000138307] |
Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25 |
pathogenic |
| GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 |
copy number loss |
See cases [RCV000138544] |
Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 |
copy number loss |
See cases [RCV000138947] |
Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25 |
pathogenic|likely benign |
| GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1 |
copy number loss |
See cases [RCV000139117] |
Chr11:126199589..135075271 [GRCh38]
Chr11:126069484..134945165 [GRCh37]
Chr11:125574694..134450377 [NCBI36]
Chr11:11q24.2-25 |
pathogenic |
| GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 |
copy number loss |
See cases [RCV000139907] |
Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25 |
pathogenic |
| GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 |
copy number loss |
See cases [RCV000139622] |
Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25 |
pathogenic|likely benign |
| GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 |
copy number loss |
See cases [RCV000142210] |
Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25 |
pathogenic |
| GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 |
copy number loss |
See cases [RCV000142185] |
Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25 |
pathogenic |
| GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1 |
copy number loss |
See cases [RCV000143755] |
Chr11:127915964..135068576 [GRCh38]
Chr11:127785859..134938470 [GRCh37]
Chr11:127291069..134443680 [NCBI36]
Chr11:11q24.3-25 |
pathogenic |
| GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 |
copy number gain |
See cases [RCV000148276] |
Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q24.2-25(chr11:125446101-134904063) |
copy number loss |
11q partial monosomy syndrome [RCV000767602] |
Chr11:125446101..134904063 [GRCh37]
Chr11:11q24.2-25 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 |
copy number loss |
See cases [RCV000240237] |
Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 |
copy number loss |
See cases [RCV000239781] |
Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) |
copy number gain |
not provided [RCV000767816] |
Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| NM_153767.3(KCNJ1):c.1034A>G (p.Asp345Gly) |
single nucleotide variant |
not provided [RCV000224168] |
Chr11:128839210 [GRCh38]
Chr11:128709105 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.199A>G (p.Thr67Ala) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000405256]|not provided [RCV000224679] |
Chr11:128840045 [GRCh38]
Chr11:128709940 [GRCh37]
Chr11:11q24.3 |
benign|likely benign |
| GRCh37/hg19 11q24.3(chr11:128047942-129015375)x1 |
copy number loss |
See cases [RCV000511329] |
Chr11:128047942..129015375 [GRCh37]
Chr11:11q24.3 |
likely pathogenic |
| GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 |
copy number loss |
See cases [RCV000511335] |
Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25 |
pathogenic |
| GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1 |
copy number loss |
See cases [RCV000240313] |
Chr11:126631558..134868407 [GRCh37]
Chr11:11q24.2-25 |
pathogenic |
| NM_153767.3(KCNJ1):c.*553C>T |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000265254] |
Chr11:128838572 [GRCh38]
Chr11:128708467 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.568C>T (p.Leu190Phe) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000303362] |
Chr11:128839676 [GRCh38]
Chr11:128709571 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.792G>A (p.Ala264=) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000304609] |
Chr11:128839452 [GRCh38]
Chr11:128709347 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*669A>G |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000305454] |
Chr11:128838456 [GRCh38]
Chr11:128708351 [GRCh37]
Chr11:11q24.3 |
likely benign |
| NM_153767.3(KCNJ1):c.*1011C>T |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000306748] |
Chr11:128838114 [GRCh38]
Chr11:128708009 [GRCh37]
Chr11:11q24.3 |
benign |
| NM_153767.3(KCNJ1):c.*16G>A |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000291885] |
Chr11:128839109 [GRCh38]
Chr11:128709004 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.17G>A (p.Arg6Gln) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000276591] |
Chr11:128840227 [GRCh38]
Chr11:128710122 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.-21-2167T>C |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000334011] |
Chr11:128842431 [GRCh38]
Chr11:128712326 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*141G>A |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000295927] |
Chr11:128838984 [GRCh38]
Chr11:128708879 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*348C>T |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000387895] |
Chr11:128838777 [GRCh38]
Chr11:128708672 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.45G>A (p.Gly15=) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000297984] |
Chr11:128840199 [GRCh38]
Chr11:128710094 [GRCh37]
Chr11:11q24.3 |
likely benign |
| NM_153767.3(KCNJ1):c.*964A>G |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000363579] |
Chr11:128838161 [GRCh38]
Chr11:128708056 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*507C>T |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000318027] |
Chr11:128838618 [GRCh38]
Chr11:128708513 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*676A>G |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000266649] |
Chr11:128838449 [GRCh38]
Chr11:128708344 [GRCh37]
Chr11:11q24.3 |
benign |
| NM_153767.3(KCNJ1):c.837T>C (p.Asp279=) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000392977] |
Chr11:128839407 [GRCh38]
Chr11:128709302 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*452G>A |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000259260] |
Chr11:128838673 [GRCh38]
Chr11:128708568 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.923C>T (p.Pro308Leu) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000344532] |
Chr11:128839321 [GRCh38]
Chr11:128709216 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.-21-2197T>A |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000367727] |
Chr11:128842461 [GRCh38]
Chr11:128712356 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*88G>A |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000348465] |
Chr11:128839037 [GRCh38]
Chr11:128708932 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*499_*501dup |
duplication |
Antenatal Bartter Syndrome [RCV000374926] |
Chr11:128838624..128838626 [GRCh38]
Chr11:128708519..128708521 [GRCh37]
Chr11:11q24.3 |
benign |
| NM_153767.3(KCNJ1):c.-21-2258G>A |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000275543] |
Chr11:128842522 [GRCh38]
Chr11:128712417 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.35G>A (p.Arg12His) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000355136] |
Chr11:128840209 [GRCh38]
Chr11:128710104 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*1045C>G |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000405965] |
Chr11:128838080 [GRCh38]
Chr11:128707975 [GRCh37]
Chr11:11q24.3 |
benign |
| NM_153767.3(KCNJ1):c.577C>T (p.Arg193Ter) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000406974]|Bartter syndrome, type 2, antenatal [RCV000406974] |
Chr11:128839667 [GRCh38]
Chr11:128709562 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*597C>T |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000357906] |
Chr11:128838528 [GRCh38]
Chr11:128708423 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.*73A>T |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000383891] |
Chr11:128839052 [GRCh38]
Chr11:128708947 [GRCh37]
Chr11:11q24.3 |
benign |
| NM_153767.3(KCNJ1):c.*382G>A |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000317036] |
Chr11:128838743 [GRCh38]
Chr11:128708638 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.1000C>T (p.Pro334Ser) |
single nucleotide variant |
not provided [RCV000722264] |
Chr11:128839244 [GRCh38]
Chr11:128709139 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.505C>T (p.Arg169Cys) |
single nucleotide variant |
Bartter syndrome, type 2, antenatal [RCV000490394]|not specified [RCV000517253] |
Chr11:128839739 [GRCh38]
Chr11:128709634 [GRCh37]
Chr11:11q24.3 |
likely benign|uncertain significance |
| NM_153767.3(KCNJ1):c.705C>T (p.Asp235=) |
single nucleotide variant |
not specified [RCV000518303] |
Chr11:128839539 [GRCh38]
Chr11:128709434 [GRCh37]
Chr11:11q24.3 |
benign |
| NM_153767.3(KCNJ1):c.732C>T (p.Ile244=) |
single nucleotide variant |
Antenatal Bartter Syndrome [RCV000343049] |
Chr11:128839512 [GRCh38]
Chr11:128709407 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.-21-2121G>A |
single nucleotide variant |
not specified [RCV000516495] |
Chr11:128842385 [GRCh38]
Chr11:128712280 [GRCh37]
Chr11:11q24.3 |
likely benign |
| NM_153767.3(KCNJ1):c.262A>T (p.Lys88Ter) |
single nucleotide variant |
Bartter syndrome, type 2, antenatal [RCV000414946] |
Chr11:128839982 [GRCh38]
Chr11:128709877 [GRCh37]
Chr11:11q24.3 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 |
copy number gain |
See cases [RCV000449449] |
Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q24.2-25(chr11:125662934-134938470)x1 |
copy number loss |
See cases [RCV000447129] |
Chr11:125662934..134938470 [GRCh37]
Chr11:11q24.2-25 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 |
copy number loss |
See cases [RCV000447077] |
Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| NM_153767.3(KCNJ1):c.180C>T (p.Tyr60=) |
single nucleotide variant |
not provided [RCV000423731] |
Chr11:128840064 [GRCh38]
Chr11:128709959 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 |
copy number loss |
See cases [RCV000445814] |
Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 |
copy number gain |
See cases [RCV000447848] |
Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 |
copy number loss |
See cases [RCV000449003] |
Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25 |
pathogenic |
| GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 |
copy number loss |
See cases [RCV000448215] |
Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 |
copy number gain |
See cases [RCV000511146] |
Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 |
copy number loss |
See cases [RCV000511283] |
Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11q24.2-25(chr11:126762944-134938470)x1 |
copy number loss |
See cases [RCV000511303] |
Chr11:126762944..134938470 [GRCh37]
Chr11:11q24.2-25 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 |
copy number loss |
See cases [RCV000510856] |
Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) |
copy number gain |
not provided [RCV000767667] |
Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| NM_153767.3(KCNJ1):c.955C>T (p.Arg319Ter) |
single nucleotide variant |
Bartter syndrome, type 2, antenatal [RCV000763228]|not provided [RCV000627258] |
Chr11:128839289 [GRCh38]
Chr11:128709184 [GRCh37]
Chr11:11q24.3 |
likely pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 |
copy number gain |
See cases [RCV000512291] |
Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q24.3(chr11:128611917-128840390)x3 |
copy number gain |
See cases [RCV000512239] |
Chr11:128611917..128840390 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 |
copy number loss |
not provided [RCV000683371] |
Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q24.2-25(chr11:127690585-132404117)x1 |
copy number loss |
not provided [RCV000683367] |
Chr11:127690585..132404117 [GRCh37]
Chr11:11q24.2-25 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 |
copy number gain |
not provided [RCV000683373] |
Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| NM_153767.3(KCNJ1):c.867C>A (p.Cys289Ter) |
single nucleotide variant |
not provided [RCV000712086] |
Chr11:128839377 [GRCh38]
Chr11:128709272 [GRCh37]
Chr11:11q24.3 |
pathogenic |
| NM_153767.3(KCNJ1):c.1001dup (p.His335fs) |
duplication |
not provided [RCV000712085] |
Chr11:128839243 [GRCh38]
Chr11:128709138 [GRCh37]
Chr11:11q24.3 |
pathogenic |
| NM_153767.3(KCNJ1):c.623A>G (p.Tyr208Cys) |
single nucleotide variant |
not provided [RCV000722748] |
Chr11:128839621 [GRCh38]
Chr11:128709516 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.305G>A (p.Cys102Tyr) |
single nucleotide variant |
not provided [RCV000722912] |
Chr11:128839939 [GRCh38]
Chr11:128709834 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| Single allele |
duplication |
Schizophrenia [RCV000754124] |
Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25 |
likely pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 |
copy number gain |
not provided [RCV000737686] |
Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q24.2-25(chr11:126362042-134938470)x3 |
copy number gain |
not provided [RCV000737697] |
Chr11:126362042..134938470 [GRCh37]
Chr11:11q24.2-25 |
pathogenic |
| GRCh37/hg19 11q24.2-25(chr11:127751691-134938470)x3 |
copy number gain |
not provided [RCV000737699] |
Chr11:127751691..134938470 [GRCh37]
Chr11:11q24.2-25 |
benign |
| GRCh37/hg19 11q24.2-25(chr11:125366454-134938470)x1 |
copy number loss |
not provided [RCV000750223] |
Chr11:125366454..134938470 [GRCh37]
Chr11:11q24.2-25 |
pathogenic |
| GRCh37/hg19 11q24.2-24.3(chr11:126809705-130289168) |
copy number loss |
not provided [RCV000767568] |
Chr11:126809705..130289168 [GRCh37]
Chr11:11q24.2-24.3 |
pathogenic |
| NM_153767.3(KCNJ1):c.626G>A (p.Gly209Glu) |
single nucleotide variant |
Bartter syndrome, type 2, antenatal [RCV000778313] |
Chr11:128839618 [GRCh38]
Chr11:128709513 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| NM_153767.3(KCNJ1):c.155C>T (p.Thr52Met) |
single nucleotide variant |
Bartter syndrome, type 2, antenatal [RCV000778314] |
Chr11:128840089 [GRCh38]
Chr11:128709984 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 |
copy number gain |
not provided [RCV000848151] |
Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 |
copy number loss |
See cases [RCV000790567] |
Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25 |
pathogenic |
| GRCh37/hg19 11q24.3(chr11:128679460-128897473)x3 |
copy number gain |
not provided [RCV000847600] |
Chr11:128679460..128897473 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
| GRCh37/hg19 11q24.3(chr11:128679460-128897473)x3 |
copy number gain |
not provided [RCV000847901] |
Chr11:128679460..128897473 [GRCh37]
Chr11:11q24.3 |
uncertain significance |
Gene-Chemical Interaction Annotations
