NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter) |
single nucleotide variant |
Bartter disease type 3 [RCV000986258]|not provided [RCV000518074] |
Chr1:16055461 [GRCh38] Chr1:16381956 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=) |
single nucleotide variant |
not provided [RCV000962923]|not specified [RCV000517729] |
Chr1:16045628 [GRCh38] Chr1:16372123 [GRCh37] Chr1:1p36.13 |
benign|likely benign |
NM_000085.5(CLCNKB):c.230C>A (p.Ala77Glu) |
single nucleotide variant |
not specified [RCV000518157] |
Chr1:16046535 [GRCh38] Chr1:16373030 [GRCh37] Chr1:1p36.13 |
uncertain significance |
CLCNKB, DEL |
deletion |
Bartter disease type 3 [RCV000008034] |
Chr1:1p36 |
pathogenic |
NM_000085.5(CLCNKB):c.782-2A>G |
single nucleotide variant |
Bartter disease type 3 [RCV000008035]|not provided [RCV001729341] |
Chr1:16049616 [GRCh38] Chr1:16376111 [GRCh37] Chr1:1p36.13 |
pathogenic|likely pathogenic |
CLCNKB, DEL |
deletion |
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS [RCV000008036] |
Chr1:1p36 |
pathogenic |
NM_000085.5(CLCNKB):c.230-1G>C |
single nucleotide variant |
Bartter syndrome, type 3, with hypocalciuria [RCV000008038] |
Chr1:16046534 [GRCh38] Chr1:16373029 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1929+1G>A |
single nucleotide variant |
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS [RCV000008039] |
Chr1:16055759 [GRCh38] Chr1:16382254 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1391G>C (p.Gly464Ala) |
single nucleotide variant |
not provided [RCV000722298] |
Chr1:16051803 [GRCh38] Chr1:16378298 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.73del (p.Cys25fs) |
deletion |
not provided [RCV000518266] |
Chr1:16044565 [GRCh38] Chr1:16371060 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr) |
single nucleotide variant |
Bartter disease type 3 [RCV001579039]|Bartter disease type 4B [RCV001579038]|not provided [RCV001683550]|not specified [RCV000516781] |
Chr1:16053701 [GRCh38] Chr1:16380196 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.258G>A (p.Gly86=) |
single nucleotide variant |
not provided [RCV000967906]|not specified [RCV000516436] |
Chr1:16046563 [GRCh38] Chr1:16373058 [GRCh37] Chr1:1p36.13 |
benign|likely benign |
NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His) |
indel |
not specified [RCV000518532] |
Chr1:16053647..16053648 [GRCh38] Chr1:16380142..16380143 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1879C>A (p.Pro627Thr) |
single nucleotide variant |
not specified [RCV000518643] |
Chr1:16055708 [GRCh38] Chr1:16382203 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.371C>T (p.Pro124Leu) |
single nucleotide variant |
Bartter disease type 3 [RCV000008029] |
Chr1:16047917 [GRCh38] Chr1:16374412 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) |
single nucleotide variant |
Bartter disease type 3 [RCV000008030]|Bartter disease type 3 [RCV001535912]|not provided [RCV001280721] |
Chr1:16048537 [GRCh38] Chr1:16375032 [GRCh37] Chr1:1p36.13 |
pathogenic|likely pathogenic |
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) |
single nucleotide variant |
Bartter disease type 3 [RCV000008031]|not provided [RCV000054563] |
Chr1:16051724 [GRCh38] Chr1:16378219 [GRCh37] Chr1:1p36.13 |
pathogenic|uncertain significance |
NM_000085.5(CLCNKB):c.1046C>A (p.Ala349Asp) |
single nucleotide variant |
Bartter disease type 3 [RCV000008032] |
Chr1:16050593 [GRCh38] Chr1:16377088 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1294T>C (p.Tyr432His) |
single nucleotide variant |
Bartter disease type 3 [RCV000008033] |
Chr1:16051544 [GRCh38] Chr1:16378039 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter) |
single nucleotide variant |
Bartter disease type 3 [RCV001536025]|Bartter syndrome, type 3, with hypocalciuria [RCV000008037]|not provided [RCV000413605] |
Chr1:16055508 [GRCh38] Chr1:16382003 [GRCh37] Chr1:1p36.13 |
pathogenic |
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 |
copy number loss |
See cases [RCV000051146] |
Chr1:15385267..20980349 [GRCh38] Chr1:15711763..21306842 [GRCh37] Chr1:15584350..21179429 [NCBI36] Chr1:1p36.21-36.12 |
pathogenic |
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] |
Chr1:6853513..17326813 [GRCh38] Chr1:6913573..17685411 [GRCh37] Chr1:6836160..17557998 [NCBI36] Chr1:1p36.31-36.13 |
pathogenic |
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 |
copy number gain |
See cases [RCV000051797] |
Chr1:13110797..20670207 [GRCh38] Chr1:13178269..20996700 [GRCh37] Chr1:13100856..20869287 [NCBI36] Chr1:1p36.21-36.12 |
pathogenic |
GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3 |
copy number gain |
See cases [RCV000051799] |
Chr1:13619979..18466172 [GRCh38] Chr1:13946474..18792666 [GRCh37] Chr1:13819061..18665253 [NCBI36] Chr1:1p36.21-36.13 |
pathogenic |
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 |
copy number loss |
See cases [RCV000053714] |
Chr1:3006193..17688934 [GRCh38] Chr1:2922757..18015429 [GRCh37] Chr1:2912617..17888016 [NCBI36] Chr1:1p36.32-36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1675G>A (p.Ala559Thr) |
single nucleotide variant |
not provided [RCV000054564] |
Chr1:16053691 [GRCh38] Chr1:16380186 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu) |
single nucleotide variant |
not provided [RCV000054565] |
Chr1:16056436 [GRCh38] Chr1:16382931 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu) |
single nucleotide variant |
not provided [RCV000054566] |
Chr1:16056494 [GRCh38] Chr1:16382989 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.23G>A (p.Arg8His) |
single nucleotide variant |
not provided [RCV000054567] |
Chr1:16044515 [GRCh38] Chr1:16371010 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.71C>T (p.Pro24Leu) |
single nucleotide variant |
not provided [RCV000054568] |
Chr1:16044563 [GRCh38] Chr1:16371058 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 |
copy number loss |
See cases [RCV000053760] |
Chr1:10556797..22557907 [GRCh38] Chr1:10616854..22884400 [GRCh37] Chr1:10539441..22756987 [NCBI36] Chr1:1p36.22-36.12 |
pathogenic |
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 |
copy number loss |
See cases [RCV000053763] |
Chr1:10621776..16520709 [GRCh38] Chr1:10681833..16847204 [GRCh37] Chr1:10604420..16719791 [NCBI36] Chr1:1p36.22-36.13 |
pathogenic |
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 |
copy number loss |
See cases [RCV000053765] |
Chr1:10809039..16422500 [GRCh38] Chr1:10869096..16748995 [GRCh37] Chr1:10791683..16621582 [NCBI36] Chr1:1p36.22-36.13 |
pathogenic |
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 |
copy number loss |
See cases [RCV000053766] |
Chr1:11121625..16324498 [GRCh38] Chr1:11181682..16650993 [GRCh37] Chr1:11104269..16523580 [NCBI36] Chr1:1p36.22-36.13 |
pathogenic |
GRCh38/hg38 1p36.21-36.13(chr1:15173497-18242678)x1 |
copy number loss |
See cases [RCV000053769] |
Chr1:15173497..18242678 [GRCh38] Chr1:15499993..18569172 [GRCh37] Chr1:15372580..18441759 [NCBI36] Chr1:1p36.21-36.13 |
pathogenic |
GRCh38/hg38 1p36.21-36.13(chr1:15173497-17019576)x1 |
copy number loss |
See cases [RCV000053771] |
Chr1:15173497..17019576 [GRCh38] Chr1:15499993..17346071 [GRCh37] Chr1:15372580..17218658 [NCBI36] Chr1:1p36.21-36.13 |
pathogenic |
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 |
copy number loss |
See cases [RCV000053756] |
Chr1:9034671..16441465 [GRCh38] Chr1:9094730..16767960 [GRCh37] Chr1:9017317..16640547 [NCBI36] Chr1:1p36.23-36.13 |
pathogenic |
NM_000085.4(CLCNKB):c.717C>T (p.Gly239=) |
single nucleotide variant |
Malignant melanoma [RCV000059973] |
Chr1:16049181 [GRCh38] Chr1:16375676 [GRCh37] Chr1:16248263 [NCBI36] Chr1:1p36.13 |
not provided |
GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1 |
copy number loss |
See cases [RCV000135597] |
Chr1:15052047..16499873 [GRCh38] Chr1:15378543..16826368 [GRCh37] Chr1:15251130..16698955 [NCBI36] Chr1:1p36.21-36.13 |
likely pathogenic|uncertain significance |
GRCh38/hg38 1p36.13(chr1:16037758-16050360)x1 |
copy number loss |
See cases [RCV000137192] |
Chr1:16037758..16050360 [GRCh38] Chr1:16364253..16376855 [GRCh37] Chr1:16236840..16249442 [NCBI36] Chr1:1p36.13 |
benign |
GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1 |
copy number loss |
See cases [RCV000138070] |
Chr1:15681812..19662339 [GRCh38] Chr1:16008307..19988832 [GRCh37] Chr1:15880894..19861419 [NCBI36] Chr1:1p36.21-36.13 |
pathogenic |
GRCh38/hg38 1p36.13(chr1:16019943-16049058)x3 |
copy number gain |
See cases [RCV000138690] |
Chr1:16019943..16049058 [GRCh38] Chr1:16346438..16375553 [GRCh37] Chr1:16219025..16248140 [NCBI36] Chr1:1p36.13 |
likely benign |
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 |
copy number gain |
See cases [RCV000142906] |
Chr1:6554885..16056011 [GRCh38] Chr1:6614945..16382506 [GRCh37] Chr1:6537532..16255093 [NCBI36] Chr1:1p36.31-36.13 |
pathogenic |
GRCh38/hg38 1p36.13(chr1:16037803-16056011)x3 |
copy number gain |
See cases [RCV000142834] |
Chr1:16037803..16056011 [GRCh38] Chr1:16364298..16382506 [GRCh37] Chr1:16236885..16255093 [NCBI36] Chr1:1p36.13 |
likely benign |
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 |
copy number loss |
See cases [RCV000142771] |
Chr1:5363826..18360302 [GRCh38] Chr1:5423886..18686796 [GRCh37] Chr1:5323746..18559383 [NCBI36] Chr1:1p36.31-36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer) |
deletion |
Bartter disease type 3 [RCV000198263] |
Chr1:16055724 [GRCh38] Chr1:16382219 [GRCh37] Chr1:1p36.13 |
likely pathogenic |
Single allele |
complex |
Ductal breast carcinoma [RCV000207058] |
Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11 |
uncertain significance |
chr1:909238-16736132 complex variant |
complex |
Ductal breast carcinoma [RCV000207094] |
Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs) |
deletion |
not provided [RCV000224201] |
Chr1:16053708 [GRCh38] Chr1:16380203 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.80G>T (p.Arg27Leu) |
single nucleotide variant |
Bartter disease type 3 [RCV001579091]|Bartter disease type 4B [RCV001579090]|not provided [RCV000710106]|not specified [RCV000516547] |
Chr1:16044572 [GRCh38] Chr1:16371067 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1381dup (p.Ile461fs) |
duplication |
Bartter disease type 3 [RCV000408763] |
Chr1:16051792..16051793 [GRCh38] Chr1:16378287..16378288 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.2016+109G>A |
single nucleotide variant |
not provided [RCV001571700] |
Chr1:16056617 [GRCh38] Chr1:16383112 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu) |
single nucleotide variant |
Bartter disease type 3 [RCV001579041]|Bartter disease type 4B [RCV001579040]|not provided [RCV000710101]|not specified [RCV000518557] |
Chr1:16053748 [GRCh38] Chr1:16380243 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser) |
single nucleotide variant |
not provided [RCV000722724] |
Chr1:16048543 [GRCh38] Chr1:16375038 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.865G>A (p.Gly289Arg) |
single nucleotide variant |
not provided [RCV000723231] |
Chr1:16049701 [GRCh38] Chr1:16376196 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=) |
single nucleotide variant |
Bartter disease type 3 [RCV001579043]|Bartter disease type 4B [RCV001579042]|not provided [RCV000710102]|not specified [RCV000517156] |
Chr1:16053757 [GRCh38] Chr1:16380252 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.324A>G (p.Ser108=) |
single nucleotide variant |
Bartter disease type 3 [RCV001578900]|Bartter disease type 4B [RCV001579096]|not provided [RCV000710103]|not specified [RCV000517867] |
Chr1:16046629 [GRCh38] Chr1:16373124 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1297+5G>T |
single nucleotide variant |
not provided [RCV000971454]|not specified [RCV000518420] |
Chr1:16051552 [GRCh38] Chr1:16378047 [GRCh37] Chr1:1p36.13 |
benign|uncertain significance |
NM_000085.5(CLCNKB):c.1409-6T>C |
single nucleotide variant |
not provided [RCV000967907]|not specified [RCV000516686] |
Chr1:16052192 [GRCh38] Chr1:16378687 [GRCh37] Chr1:1p36.13 |
benign|likely benign |
NM_000085.5(CLCNKB):c.1979C>T (p.Ser660Leu) |
single nucleotide variant |
not provided [RCV000516911] |
Chr1:16056471 [GRCh38] Chr1:16382966 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.262A>C (p.Ser88Arg) |
single nucleotide variant |
not provided [RCV001722436]|not specified [RCV000517361] |
Chr1:16046567 [GRCh38] Chr1:16373062 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1511C>T (p.Ala504Val) |
single nucleotide variant |
not specified [RCV000517626] |
Chr1:16052300 [GRCh38] Chr1:16378795 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh37/hg19 1p36.13(chr1:16358989-16381893)x3 |
copy number gain |
See cases [RCV000446482] |
Chr1:16358989..16381893 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 |
copy number loss |
See cases [RCV000446470] |
Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12 |
pathogenic |
GRCh37/hg19 1p36.13(chr1:16372151-16384554)x3 |
copy number gain |
See cases [RCV000446662] |
Chr1:16372151..16384554 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.577-5C>T |
single nucleotide variant |
Bartter disease type 3 [RCV001578908]|Bartter disease type 4B [RCV001578907]|not provided [RCV000710105]|not specified [RCV000417959] |
Chr1:16048499 [GRCh38] Chr1:16374994 [GRCh37] Chr1:1p36.13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000085.5(CLCNKB):c.359G>T (p.Gly120Val) |
single nucleotide variant |
not provided [RCV000438277] |
Chr1:16047905 [GRCh38] Chr1:16374400 [GRCh37] Chr1:1p36.13 |
likely pathogenic |
NM_000085.5(CLCNKB):c.876T>C (p.Cys292=) |
single nucleotide variant |
Bartter disease type 3 [RCV001579035]|Bartter disease type 4B [RCV001579034]|not provided [RCV000710108]|not specified [RCV000427070] |
Chr1:16049824 [GRCh38] Chr1:16376319 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16358989-16384554)x3 |
copy number gain |
See cases [RCV000447999] |
Chr1:16358989..16384554 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16372151-16390104)x3 |
copy number gain |
See cases [RCV000448890] |
Chr1:16372151..16390104 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16372151-16384554)x1 |
copy number loss |
See cases [RCV000448251] |
Chr1:16372151..16384554 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16372151-16381893)x3 |
copy number gain |
See cases [RCV000447926] |
Chr1:16372151..16381893 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16350393-16381893)x3 |
copy number gain |
See cases [RCV000448969] |
Chr1:16350393..16381893 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.21-36.13(chr1:13178371-19961858)x1 |
copy number loss |
See cases [RCV000447987] |
Chr1:13178371..19961858 [GRCh37] Chr1:1p36.21-36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.*271G>C |
single nucleotide variant |
not specified [RCV000455305] |
Chr1:16057187 [GRCh38] Chr1:16383682 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant [RCV001258278]|not provided [RCV000711253]|not specified [RCV000455750] |
Chr1:16055706 [GRCh38] Chr1:16382201 [GRCh37] Chr1:1p36.13 |
benign|likely benign |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg) |
single nucleotide variant |
Bartter disease type 3 [RCV001197382]|Proteinuria [RCV000626587]|not provided [RCV001443062] |
Chr1:16049164 [GRCh38] Chr1:16375659 [GRCh37] Chr1:1p36.13 |
likely benign|uncertain significance |
NM_000085.5(CLCNKB):c.642A>C (p.Ala214=) |
single nucleotide variant |
Bartter disease type 3 [RCV001578911]|Bartter disease type 4B [RCV001578910]|not provided [RCV001722545]|not specified [RCV000600330] |
Chr1:16048569 [GRCh38] Chr1:16375064 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1166G>A (p.Trp389Ter) |
single nucleotide variant |
not provided [RCV000595618] |
Chr1:16050987 [GRCh38] Chr1:16377482 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.656-105G>A |
single nucleotide variant |
not provided [RCV001672891]|not specified [RCV000614321] |
Chr1:16049015 [GRCh38] Chr1:16375510 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1053+13G>C |
single nucleotide variant |
not provided [RCV001672892]|not specified [RCV000612034] |
Chr1:16050613 [GRCh38] Chr1:16377108 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) |
duplication |
Bartter disease type 3 [RCV001197383]|Proteinuria [RCV000626588] |
Chr1:16049884..16049885 [GRCh38] Chr1:16376379..16376380 [GRCh37] Chr1:1p36.13 |
likely pathogenic |
NM_000085.5(CLCNKB):c.492G>C (p.Gly164=) |
single nucleotide variant |
Bartter disease type 3 [RCV001578904]|Bartter disease type 4B [RCV001578903]|not provided [RCV000710104]|not specified [RCV000516446] |
Chr1:16048038 [GRCh38] Chr1:16374533 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val) |
single nucleotide variant |
Bartter disease type 3 [RCV001578913]|Bartter disease type 4B [RCV001578912]|not provided [RCV000710107]|not specified [RCV000517461] |
Chr1:16049696 [GRCh38] Chr1:16376191 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) |
single nucleotide variant |
Bartter disease type 3 [RCV000986251]|Bartter disease type 4B [RCV001578909]|not provided [RCV001653945]|not specified [RCV000606374] |
Chr1:16048568 [GRCh38] Chr1:16375063 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16217579-16496902)x3 |
copy number gain |
not provided [RCV000684552] |
Chr1:16217579..16496902 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh37/hg19 1p36.13(chr1:16344099-16389405)x1 |
copy number loss |
not provided [RCV000684553] |
Chr1:16344099..16389405 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh37/hg19 1p36.13(chr1:16344099-16403711)x1 |
copy number loss |
not provided [RCV000684554] |
Chr1:16344099..16403711 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1255A>G (p.Ile419Val) |
single nucleotide variant |
not provided [RCV000711247] |
Chr1:16051505 [GRCh38] Chr1:16378000 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1308C>T (p.Ile436=) |
single nucleotide variant |
not provided [RCV000711248] |
Chr1:16051720 [GRCh38] Chr1:16378215 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1375A>C (p.Asn459His) |
single nucleotide variant |
not provided [RCV000711249] |
Chr1:16051787 [GRCh38] Chr1:16378282 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser) |
single nucleotide variant |
not provided [RCV000711250]|not specified [RCV001805830] |
Chr1:16052230 [GRCh38] Chr1:16378725 [GRCh37] Chr1:1p36.13 |
benign|likely benign |
NM_000085.5(CLCNKB):c.1455G>A (p.Ala485=) |
single nucleotide variant |
not provided [RCV000711251]|not specified [RCV001702713] |
Chr1:16052244 [GRCh38] Chr1:16378739 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1254C>T (p.Thr418=) |
single nucleotide variant |
not provided [RCV000711246] |
Chr1:16051504 [GRCh38] Chr1:16377999 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs) |
duplication |
Bartter disease type 3 [RCV000761590]|not provided [RCV000711252] |
Chr1:16044506..16044507 [GRCh38] Chr1:16371001..16371002 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.577-19del |
deletion |
not provided [RCV000711254] |
Chr1:16048483 [GRCh38] Chr1:16374978 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1930-37T>A |
single nucleotide variant |
Bartter disease type 3 [RCV001579225]|Bartter disease type 4B [RCV001579224]|not provided [RCV001647446] |
Chr1:16056385 [GRCh38] Chr1:16382880 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.867-32G>A |
single nucleotide variant |
Bartter disease type 3 [RCV001579033]|Bartter disease type 4B [RCV001579032]|not provided [RCV001615339] |
Chr1:16049783 [GRCh38] Chr1:16376278 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.968+47T>C |
single nucleotide variant |
Bartter disease type 3 [RCV001579037]|Bartter disease type 4B [RCV001579036]|not provided [RCV001615340] |
Chr1:16049963 [GRCh38] Chr1:16376458 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.101-50G>C |
single nucleotide variant |
Bartter disease type 3 [RCV001579093]|Bartter disease type 4B [RCV001579092]|not provided [RCV001685541] |
Chr1:16045508 [GRCh38] Chr1:16372003 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.13(chr1:16336654-16377139)x3 |
copy number gain |
not provided [RCV000736411] |
Chr1:16336654..16377139 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16357147-16389026)x3 |
copy number gain |
not provided [RCV000736422] |
Chr1:16357147..16389026 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16358248-16382003)x4 |
copy number gain |
not provided [RCV000736424] |
Chr1:16358248..16382003 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16358248-16382966)x1 |
copy number loss |
not provided [RCV000736425] |
Chr1:16358248..16382966 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16358932-16383605)x3 |
copy number gain |
not provided [RCV000736426] |
Chr1:16358932..16383605 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16348412-16377108)x3 |
copy number gain |
not provided [RCV000736418] |
Chr1:16348412..16377108 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16352547-16370851)x1 |
copy number loss |
not provided [RCV000736419] |
Chr1:16352547..16370851 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16357147-16387573)x3 |
copy number gain |
not provided [RCV000736421] |
Chr1:16357147..16387573 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16357733-16394859)x3 |
copy number gain |
not provided [RCV000736423] |
Chr1:16357733..16394859 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16346507-16389026)x3 |
copy number gain |
not provided [RCV000736414] |
Chr1:16346507..16389026 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16359051-16382003)x3 |
copy number gain |
not provided [RCV000748915] |
Chr1:16359051..16382003 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16360279-16383267)x3 |
copy number gain |
not provided [RCV000748916] |
Chr1:16360279..16383267 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16360487-16380582)x3 |
copy number gain |
not provided [RCV000748919] |
Chr1:16360487..16380582 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16360706-16384499)x3 |
copy number gain |
not provided [RCV000748920] |
Chr1:16360706..16384499 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16360765-16380582)x3 |
copy number gain |
not provided [RCV000748921] |
Chr1:16360765..16380582 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16360814-16383267)x3 |
copy number gain |
not provided [RCV000748922] |
Chr1:16360814..16383267 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16367339-16380582)x3 |
copy number gain |
not provided [RCV000748923] |
Chr1:16367339..16380582 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16367339-16382003)x3 |
copy number gain |
not provided [RCV000748924] |
Chr1:16367339..16382003 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16367339-16382966)x3 |
copy number gain |
not provided [RCV000748925] |
Chr1:16367339..16382966 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16367339-16382966)x1 |
copy number loss |
not provided [RCV000748926] |
Chr1:16367339..16382966 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16367339-16384499)x3 |
copy number gain |
not provided [RCV000748927] |
Chr1:16367339..16384499 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16367339-16389026)x3 |
copy number gain |
not provided [RCV000748928] |
Chr1:16367339..16389026 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16368324-16377108)x3 |
copy number gain |
not provided [RCV000748929] |
Chr1:16368324..16377108 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16370314-16383267)x3 |
copy number gain |
not provided [RCV000748930] |
Chr1:16370314..16383267 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.498+117A>G |
single nucleotide variant |
not provided [RCV001668111] |
Chr1:16048161 [GRCh38] Chr1:16374656 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1297+51A>G |
single nucleotide variant |
not provided [RCV001691445] |
Chr1:16051598 [GRCh38] Chr1:16378093 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.-7-240C>T |
single nucleotide variant |
not provided [RCV001646076] |
Chr1:16044246 [GRCh38] Chr1:16370741 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.-8+289T>G |
single nucleotide variant |
not provided [RCV001612706] |
Chr1:16044169 [GRCh38] Chr1:16370664 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+92T>C |
single nucleotide variant |
not provided [RCV001648722] |
Chr1:16052503 [GRCh38] Chr1:16378998 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.229+101dup |
duplication |
not provided [RCV001566206] |
Chr1:16045779..16045780 [GRCh38] Chr1:16372274..16372275 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.866+35A>T |
single nucleotide variant |
Bartter disease type 3 [RCV001579029]|Bartter disease type 4B [RCV001578914]|not provided [RCV001685534] |
Chr1:16049737 [GRCh38] Chr1:16376232 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.866+47del |
deletion |
Bartter disease type 3 [RCV001579031]|Bartter disease type 4B [RCV001579030]|not provided [RCV001685537] |
Chr1:16049744 [GRCh38] Chr1:16376239 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1930-40A>G |
single nucleotide variant |
Bartter disease type 3 [RCV001579223]|Bartter disease type 4B [RCV001579044]|not provided [RCV001638178] |
Chr1:16056382 [GRCh38] Chr1:16382877 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.2017-28G>C |
single nucleotide variant |
Bartter disease type 3 [RCV001579227]|Bartter disease type 4B [RCV001579226]|not provided [RCV001694134] |
Chr1:16056841 [GRCh38] Chr1:16383336 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.*37A>C |
single nucleotide variant |
Bartter disease type 3 [RCV001579231]|Bartter disease type 4B [RCV001579230]|not provided [RCV001720330] |
Chr1:16056953 [GRCh38] Chr1:16383448 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.968+1G>A |
single nucleotide variant |
not provided [RCV001703393] |
Chr1:16049917 [GRCh38] Chr1:16376412 [GRCh37] Chr1:1p36.13 |
pathogenic|likely pathogenic |
NM_000085.5(CLCNKB):c.101-181C>G |
single nucleotide variant |
not provided [RCV001708796] |
Chr1:16045377 [GRCh38] Chr1:16371872 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.577-27T>G |
single nucleotide variant |
not provided [RCV001644387] |
Chr1:16048477 [GRCh38] Chr1:16374972 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) |
single nucleotide variant |
Bartter disease type 3 [RCV000986254]|not provided [RCV001576355] |
Chr1:16049858 [GRCh38] Chr1:16376353 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.823G>A (p.Val275Ile) |
single nucleotide variant |
not provided [RCV000968511]|not specified [RCV001289389] |
Chr1:16049659 [GRCh38] Chr1:16376154 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=) |
single nucleotide variant |
not provided [RCV000967908] |
Chr1:16056907 [GRCh38] Chr1:16383402 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.840T>G (p.Pro280=) |
single nucleotide variant |
not provided [RCV000901006] |
Chr1:16049676 [GRCh38] Chr1:16376171 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.816G>A (p.Arg272=) |
single nucleotide variant |
not provided [RCV000926417] |
Chr1:16049652 [GRCh38] Chr1:16376147 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.869G>T (p.Gly290Val) |
single nucleotide variant |
not provided [RCV000915571] |
Chr1:16049817 [GRCh38] Chr1:16376312 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.762G>A (p.Ala254=) |
single nucleotide variant |
not provided [RCV000973656] |
Chr1:16049226 [GRCh38] Chr1:16375721 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1 |
uncertain significance |
NM_000085.5(CLCNKB):c.1930-6A>G |
single nucleotide variant |
not provided [RCV000885115] |
Chr1:16056416 [GRCh38] Chr1:16382911 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1527C>T (p.Asn509=) |
single nucleotide variant |
not provided [RCV000968512]|not specified [RCV001289388] |
Chr1:16052316 [GRCh38] Chr1:16378811 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.52C>T (p.Leu18=) |
single nucleotide variant |
not provided [RCV000919653] |
Chr1:16044544 [GRCh38] Chr1:16371039 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.957G>C (p.Leu319=) |
single nucleotide variant |
not provided [RCV000903160] |
Chr1:16049905 [GRCh38] Chr1:16376400 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.231G>A (p.Ala77=) |
single nucleotide variant |
not provided [RCV000898676] |
Chr1:16046536 [GRCh38] Chr1:16373031 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.12T>G (p.Phe4Leu) |
single nucleotide variant |
not provided [RCV000968510]|not specified [RCV001289387] |
Chr1:16044504 [GRCh38] Chr1:16370999 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.392C>T (p.Ala131Val) |
single nucleotide variant |
not provided [RCV000924221] |
Chr1:16047938 [GRCh38] Chr1:16374433 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.615G>T (p.Ala205=) |
single nucleotide variant |
not provided [RCV000882814] |
Chr1:16048542 [GRCh38] Chr1:16375037 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.310G>A (p.Val104Ile) |
single nucleotide variant |
not provided [RCV000961256] |
Chr1:16046615 [GRCh38] Chr1:16373110 [GRCh37] Chr1:1p36.13 |
benign|likely benign |
NM_000085.5(CLCNKB):c.1569C>T (p.Thr523=) |
single nucleotide variant |
not provided [RCV000880712] |
Chr1:16052358 [GRCh38] Chr1:16378853 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.641_642delinsGC (p.Ala214Gly) |
indel |
not provided [RCV000972058] |
Chr1:16048568..16048569 [GRCh38] Chr1:16375063..16375064 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.968+9C>T |
single nucleotide variant |
not provided [RCV000895550] |
Chr1:16049925 [GRCh38] Chr1:16376420 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs) |
deletion |
Bartter disease type 3 [RCV000791188] |
Chr1:16052264 [GRCh38] Chr1:16378759 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) |
single nucleotide variant |
Bartter disease type 3 [RCV000986255]|Bartter disease type 3 [RCV001328286] |
Chr1:16051721 [GRCh38] Chr1:16378216 [GRCh37] Chr1:1p36.13 |
pathogenic|uncertain significance |
NM_000085.5(CLCNKB):c.656-31del |
deletion |
Bartter disease type 3 [RCV000791187]|not specified [RCV001169945] |
Chr1:16049089 [GRCh38] Chr1:16375584 [GRCh37] Chr1:1p36.13 |
pathogenic|uncertain significance |
NM_000085.5(CLCNKB):c.1756+126G>A |
single nucleotide variant |
not provided [RCV001643410] |
Chr1:16053898 [GRCh38] Chr1:16380393 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.510G>C (p.Val170=) |
single nucleotide variant |
not provided [RCV000958812] |
Chr1:16048354 [GRCh38] Chr1:16374849 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) |
single nucleotide variant |
Bartter disease type 3 [RCV000986253] |
Chr1:16049172 [GRCh38] Chr1:16375667 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val) |
single nucleotide variant |
Bartter disease type 3 [RCV000986256] |
Chr1:16051812 [GRCh38] Chr1:16378307 [GRCh37] Chr1:1p36.13 |
likely pathogenic |
NM_000085.5(CLCNKB):c.968+107_968+108insGCCATTATTTTTT |
insertion |
not provided [RCV001544993] |
Chr1:16050022..16050023 [GRCh38] Chr1:16376517..16376518 [GRCh37] Chr1:1p36.13 |
likely benign |
GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1 |
copy number loss |
not provided [RCV000847705] |
Chr1:16096742..16725355 [GRCh37] Chr1:1p36.21-36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter) |
single nucleotide variant |
Bartter disease type 3 [RCV000986252]|not provided [RCV001858635] |
Chr1:16049137 [GRCh38] Chr1:16375632 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr) |
single nucleotide variant |
Bartter disease type 3 [RCV001196974]|not provided [RCV002069282] |
Chr1:16053745 [GRCh38] Chr1:16380240 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs) |
deletion |
Bartter disease type 3 [RCV001196696] |
Chr1:16051801 [GRCh38] Chr1:16378296 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1929+293C>T |
single nucleotide variant |
not provided [RCV001568965] |
Chr1:16056051 [GRCh38] Chr1:16382546 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1623-101C>T |
single nucleotide variant |
not provided [RCV001548291] |
Chr1:16053538 [GRCh38] Chr1:16380033 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACACAT |
insertion |
not provided [RCV001680814] |
Chr1:16044378..16044379 [GRCh38] Chr1:16370873..16370874 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+267C>T |
single nucleotide variant |
not provided [RCV001638691] |
Chr1:16052678 [GRCh38] Chr1:16379173 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1227+55T>G |
single nucleotide variant |
not provided [RCV001659567] |
Chr1:16051103 [GRCh38] Chr1:16377598 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+39C>T |
single nucleotide variant |
not provided [RCV001635992] |
Chr1:16052450 [GRCh38] Chr1:16378945 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1757-114C>T |
single nucleotide variant |
not provided [RCV001725348] |
Chr1:16055321 [GRCh38] Chr1:16381816 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+102C>T |
single nucleotide variant |
not provided [RCV001660794] |
Chr1:16052513 [GRCh38] Chr1:16379008 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1054-7G>A |
single nucleotide variant |
not provided [RCV001598418] |
Chr1:16050868 [GRCh38] Chr1:16377363 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.230-119G>A |
single nucleotide variant |
not provided [RCV001690770] |
Chr1:16046416 [GRCh38] Chr1:16372911 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1756+70G>A |
single nucleotide variant |
not provided [RCV001708807] |
Chr1:16053842 [GRCh38] Chr1:16380337 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.358+44_358+46del |
deletion |
not provided [RCV001688623] |
Chr1:16046705..16046707 [GRCh38] Chr1:16373200..16373202 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1408+116C>T |
single nucleotide variant |
not provided [RCV001651448] |
Chr1:16051936 [GRCh38] Chr1:16378431 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.229+99_229+100insC |
insertion |
not provided [RCV001534744] |
Chr1:16045785..16045786 [GRCh38] Chr1:16372280..16372281 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACAT |
insertion |
not provided [RCV001561581] |
Chr1:16044378..16044379 [GRCh38] Chr1:16370873..16370874 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.781+98C>G |
single nucleotide variant |
not provided [RCV001691070] |
Chr1:16049343 [GRCh38] Chr1:16375838 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1227+61_1227+62insA |
insertion |
not provided [RCV001668750] |
Chr1:16051109..16051110 [GRCh38] Chr1:16377604..16377605 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.968+83C>G |
single nucleotide variant |
not provided [RCV001709079] |
Chr1:16049999 [GRCh38] Chr1:16376494 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.2016+34A>G |
single nucleotide variant |
not provided [RCV001649600] |
Chr1:16056542 [GRCh38] Chr1:16383037 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.2017-104A>G |
single nucleotide variant |
not provided [RCV001689106] |
Chr1:16056765 [GRCh38] Chr1:16383260 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+229G>A |
single nucleotide variant |
not provided [RCV001620411] |
Chr1:16052640 [GRCh38] Chr1:16379135 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.2017-97A>G |
single nucleotide variant |
not provided [RCV001616835] |
Chr1:16056772 [GRCh38] Chr1:16383267 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.229+102del |
deletion |
not provided [RCV001639923] |
Chr1:16045788 [GRCh38] Chr1:16372283 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1717T>C (p.Ser573Pro) |
single nucleotide variant |
not provided [RCV001551956] |
Chr1:16053733 [GRCh38] Chr1:16380228 [GRCh37] Chr1:1p36.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000085.5(CLCNKB):c.1757-31G>A |
single nucleotide variant |
not provided [RCV001552053] |
Chr1:16055404 [GRCh38] Chr1:16381899 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.2016+81G>A |
single nucleotide variant |
not provided [RCV001614453] |
Chr1:16056589 [GRCh38] Chr1:16383084 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1227+61dup |
duplication |
not provided [RCV001676905] |
Chr1:16051103..16051104 [GRCh38] Chr1:16377598..16377599 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.-7-247_-7-246del |
deletion |
not provided [RCV001614448] |
Chr1:16044239..16044240 [GRCh38] Chr1:16370734..16370735 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1409-44C>G |
single nucleotide variant |
not provided [RCV001621191] |
Chr1:16052154 [GRCh38] Chr1:16378649 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.359-70A>G |
single nucleotide variant |
Bartter disease type 3 [RCV001578902]|Bartter disease type 4B [RCV001578901]|not provided [RCV001694127] |
Chr1:16047835 [GRCh38] Chr1:16374330 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1570G>A (p.Val524Ile) |
single nucleotide variant |
not provided [RCV000974032] |
Chr1:16052359 [GRCh38] Chr1:16378854 [GRCh37] Chr1:1p36.13 |
benign|likely benign |
NM_000085.5(CLCNKB):c.348C>T (p.Pro116=) |
single nucleotide variant |
not provided [RCV000883560] |
Chr1:16046653 [GRCh38] Chr1:16373148 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.172G>T (p.Val58Leu) |
single nucleotide variant |
not provided [RCV000885576] |
Chr1:16045629 [GRCh38] Chr1:16372124 [GRCh37] Chr1:1p36.13 |
likely benign|conflicting interpretations of pathogenicity |
NM_000085.5(CLCNKB):c.499-4G>T |
single nucleotide variant |
not provided [RCV000941700] |
Chr1:16048339 [GRCh38] Chr1:16374834 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.794C>G (p.Ser265Cys) |
single nucleotide variant |
not provided [RCV000968971] |
Chr1:16049630 [GRCh38] Chr1:16376125 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.222G>A (p.Val74=) |
single nucleotide variant |
not provided [RCV000918425] |
Chr1:16045679 [GRCh38] Chr1:16372174 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.236A>G (p.Gln79Arg) |
single nucleotide variant |
Bartter disease type 3 [RCV001196695] |
Chr1:16046541 [GRCh38] Chr1:16373036 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1971T>C (p.Phe657=) |
single nucleotide variant |
not provided [RCV000889846] |
Chr1:16056463 [GRCh38] Chr1:16382958 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1689A>G (p.Pro563=) |
single nucleotide variant |
not provided [RCV000889877] |
Chr1:16053705 [GRCh38] Chr1:16380200 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter) |
single nucleotide variant |
Bartter disease type 3 [RCV000986257] |
Chr1:16052349 [GRCh38] Chr1:16378844 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACAT |
insertion |
not provided [RCV001659507] |
Chr1:16044378..16044379 [GRCh38] Chr1:16370873..16370874 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.230-59G>A |
single nucleotide variant |
Bartter disease type 3 [RCV001579095]|Bartter disease type 4B [RCV001579094]|not provided [RCV001676063] |
Chr1:16046476 [GRCh38] Chr1:16372971 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1930-126G>C |
single nucleotide variant |
not provided [RCV001721827] |
Chr1:16056296 [GRCh38] Chr1:16382791 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1929+252T>C |
single nucleotide variant |
not provided [RCV001721876] |
Chr1:16056010 [GRCh38] Chr1:16382505 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) |
single nucleotide variant |
Bartter disease type 3 [RCV001195134]|not provided [RCV000991835] |
Chr1:16051737 [GRCh38] Chr1:16378232 [GRCh37] Chr1:1p36.13 |
pathogenic|likely pathogenic |
NM_000085.5(CLCNKB):c.969-195C>G |
single nucleotide variant |
not provided [RCV001721895] |
Chr1:16050321 [GRCh38] Chr1:16376816 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1623-311G>A |
single nucleotide variant |
not provided [RCV001682110] |
Chr1:16053328 [GRCh38] Chr1:16379823 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.*181G>A |
single nucleotide variant |
not provided [RCV001550609] |
Chr1:16057097 [GRCh38] Chr1:16383592 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.*25G>A |
single nucleotide variant |
not provided [RCV001569350] |
Chr1:16056941 [GRCh38] Chr1:16383436 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1622+110G>A |
single nucleotide variant |
not provided [RCV001651433] |
Chr1:16052521 [GRCh38] Chr1:16379016 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+45T>C |
single nucleotide variant |
not provided [RCV001677653] |
Chr1:16052456 [GRCh38] Chr1:16378951 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16370960-16383841) |
copy number loss |
Bartter disease type 3 [RCV001535964] |
Chr1:16370960..16383841 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1622+35del |
deletion |
not provided [RCV001717978] |
Chr1:16052442 [GRCh38] Chr1:16378937 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+85G>A |
single nucleotide variant |
not provided [RCV001688784] |
Chr1:16052496 [GRCh38] Chr1:16378991 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1297+57G>C |
single nucleotide variant |
not provided [RCV001639315] |
Chr1:16051604 [GRCh38] Chr1:16378099 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.969-219C>G |
single nucleotide variant |
not provided [RCV001688263] |
Chr1:16050297 [GRCh38] Chr1:16376792 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.230-222G>A |
single nucleotide variant |
not provided [RCV001620337] |
Chr1:16046313 [GRCh38] Chr1:16372808 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1408+16G>C |
single nucleotide variant |
not provided [RCV001685665] |
Chr1:16051836 [GRCh38] Chr1:16378331 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+32G>A |
single nucleotide variant |
not provided [RCV001661114] |
Chr1:16052443 [GRCh38] Chr1:16378938 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.2017-29dup |
duplication |
not provided [RCV001642043] |
Chr1:16056834..16056835 [GRCh38] Chr1:16383329..16383330 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1756+315C>T |
single nucleotide variant |
not provided [RCV001721836] |
Chr1:16054087 [GRCh38] Chr1:16380582 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1756+221G>A |
single nucleotide variant |
not provided [RCV001721842] |
Chr1:16053993 [GRCh38] Chr1:16380488 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1757-138T>A |
single nucleotide variant |
not provided [RCV001721852] |
Chr1:16055297 [GRCh38] Chr1:16381792 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1930-86T>A |
single nucleotide variant |
not provided [RCV001721886] |
Chr1:16056336 [GRCh38] Chr1:16382831 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.969-180C>T |
single nucleotide variant |
not provided [RCV001656741] |
Chr1:16050336 [GRCh38] Chr1:16376831 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.-8+302G>C |
single nucleotide variant |
not provided [RCV001677208] |
Chr1:16044182 [GRCh38] Chr1:16370677 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1929+117T>C |
single nucleotide variant |
not provided [RCV001596603] |
Chr1:16055875 [GRCh38] Chr1:16382370 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.968+36G>A |
single nucleotide variant |
not provided [RCV001720448] |
Chr1:16049952 [GRCh38] Chr1:16376447 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+100C>T |
single nucleotide variant |
not provided [RCV001695219] |
Chr1:16052511 [GRCh38] Chr1:16379006 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.781+133C>T |
single nucleotide variant |
not provided [RCV001669113] |
Chr1:16049378 [GRCh38] Chr1:16375873 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1297+58C>A |
single nucleotide variant |
not provided [RCV001613946] |
Chr1:16051605 [GRCh38] Chr1:16378100 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+116_1622+117insGGAGGGGCTG |
microsatellite |
not provided [RCV001683889] |
Chr1:16052520..16052521 [GRCh38] Chr1:16379015..16379016 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.498+83C>G |
single nucleotide variant |
Bartter disease type 3 [RCV001578906]|Bartter disease type 4B [RCV001578905]|not provided [RCV001541640] |
Chr1:16048127 [GRCh38] Chr1:16374622 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1408+24C>G |
single nucleotide variant |
not provided [RCV001648006] |
Chr1:16051844 [GRCh38] Chr1:16378339 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.359-232G>A |
single nucleotide variant |
not provided [RCV001648012] |
Chr1:16047673 [GRCh38] Chr1:16374168 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.969-292A>G |
single nucleotide variant |
not provided [RCV001614363] |
Chr1:16050224 [GRCh38] Chr1:16376719 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1408+180G>A |
single nucleotide variant |
not provided [RCV001649153] |
Chr1:16052000 [GRCh38] Chr1:16378495 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.655+152del |
deletion |
not provided [RCV001582088] |
Chr1:16048734 [GRCh38] Chr1:16375229 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1228-38A>G |
single nucleotide variant |
not provided [RCV001678945] |
Chr1:16051440 [GRCh38] Chr1:16377935 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.655+55C>T |
single nucleotide variant |
not provided [RCV001644530] |
Chr1:16048637 [GRCh38] Chr1:16375132 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.-7-82G>A |
single nucleotide variant |
not provided [RCV001692607] |
Chr1:16044404 [GRCh38] Chr1:16370899 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.866+33_866+34insT |
insertion |
not provided [RCV001690489] |
Chr1:16049735..16049736 [GRCh38] Chr1:16376230..16376231 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+25A>G |
single nucleotide variant |
not provided [RCV001648683] |
Chr1:16052436 [GRCh38] Chr1:16378931 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.968+148A>G |
single nucleotide variant |
not provided [RCV001652189] |
Chr1:16050064 [GRCh38] Chr1:16376559 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.359-215G>A |
single nucleotide variant |
not provided [RCV001614800] |
Chr1:16047690 [GRCh38] Chr1:16374185 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1930-239C>G |
single nucleotide variant |
not provided [RCV001679495] |
Chr1:16056183 [GRCh38] Chr1:16382678 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.100+195G>A |
single nucleotide variant |
not provided [RCV001574367] |
Chr1:16044787 [GRCh38] Chr1:16371282 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.*104C>T |
single nucleotide variant |
not provided [RCV001540723] |
Chr1:16057020 [GRCh38] Chr1:16383515 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.782-75G>C |
single nucleotide variant |
not provided [RCV001666751] |
Chr1:16049543 [GRCh38] Chr1:16376038 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.13(chr1:16372179-16388605) |
copy number loss |
Bartter disease type 3 [RCV001195133] |
Chr1:16372179..16388605 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1092C>T (p.Asn364=) |
single nucleotide variant |
not provided [RCV001200328] |
Chr1:16050913 [GRCh38] Chr1:16377408 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) |
single nucleotide variant |
Bartter disease type 3 [RCV001849489]|Epilepsy, familial focal, with variable foci 1 [RCV001251481] |
Chr1:16045683 [GRCh38] Chr1:16372178 [GRCh37] Chr1:1p36.13 |
pathogenic|uncertain significance |
NM_000085.5(CLCNKB):c.2017-16C>T |
single nucleotide variant |
Bartter disease type 3 [RCV001579229]|Bartter disease type 4B [RCV001579228]|not provided [RCV001615237]|not specified [RCV001529597] |
Chr1:16056853 [GRCh38] Chr1:16383348 [GRCh37] Chr1:1p36.13 |
benign |
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1 |
copy number loss |
not provided [RCV001259568] |
Chr1:16041431..21295864 [GRCh37] Chr1:1p36.21-36.12 |
pathogenic |
NM_000085.5(CLCNKB):c.1006G>A (p.Ala336Thr) |
single nucleotide variant |
Bartter disease type 3 [RCV001280895] |
Chr1:16050553 [GRCh38] Chr1:16377048 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5:c.(?_-1)_(*1_?)del |
deletion |
Bartter disease type 3 [RCV001281334] |
Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.656-14A>T |
single nucleotide variant |
not provided [RCV001537526] |
Chr1:16049106 [GRCh38] Chr1:16375601 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1270G>A (p.Gly424Arg) |
single nucleotide variant |
Bartter disease type 3 [RCV001281172] |
Chr1:16051520 [GRCh38] Chr1:16378015 [GRCh37] Chr1:1p36.13 |
likely pathogenic |
NM_000085.5(CLCNKB):c.376del (p.Glu125_Val126insTer) |
deletion |
not provided [RCV001280722] |
Chr1:16047921 [GRCh38] Chr1:16374416 [GRCh37] Chr1:1p36.13 |
likely pathogenic |
NM_000085.5(CLCNKB):c.891C>A (p.Ser297Arg) |
single nucleotide variant |
not provided [RCV001289390] |
Chr1:16049839 [GRCh38] Chr1:16376334 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.88C>T (p.Arg30Ter) |
single nucleotide variant |
Bartter syndrome type 3 [RCV001336636] |
Chr1:16044580 [GRCh38] Chr1:16371075 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1623-90G>A |
single nucleotide variant |
not provided [RCV001538673] |
Chr1:16053549 [GRCh38] Chr1:16380044 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.655+146C>A |
single nucleotide variant |
not provided [RCV001538755] |
Chr1:16048728 [GRCh38] Chr1:16375223 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.969-58C>T |
single nucleotide variant |
not provided [RCV001539827] |
Chr1:16050458 [GRCh38] Chr1:16376953 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1930-187C>T |
single nucleotide variant |
not provided [RCV001643657] |
Chr1:16056235 [GRCh38] Chr1:16382730 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.101-121A>C |
single nucleotide variant |
not provided [RCV001541244] |
Chr1:16045437 [GRCh38] Chr1:16371932 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp) |
single nucleotide variant |
Bartter disease type 3 [RCV001535929] |
Chr1:16046579 [GRCh38] Chr1:16373074 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1930-199T>C |
single nucleotide variant |
not provided [RCV001690492] |
Chr1:16056223 [GRCh38] Chr1:16382718 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1756+293G>A |
single nucleotide variant |
not provided [RCV001655262] |
Chr1:16054065 [GRCh38] Chr1:16380560 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1183C>T (p.Arg395Trp) |
single nucleotide variant |
not provided [RCV001679394] |
Chr1:16051004 [GRCh38] Chr1:16377499 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+48G>A |
single nucleotide variant |
not provided [RCV001709161] |
Chr1:16052459 [GRCh38] Chr1:16378954 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1930-83T>A |
single nucleotide variant |
not provided [RCV001675403] |
Chr1:16056339 [GRCh38] Chr1:16382834 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.358+124A>G |
single nucleotide variant |
not provided [RCV001614814] |
Chr1:16046787 [GRCh38] Chr1:16373282 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1757-208C>T |
single nucleotide variant |
not provided [RCV001655558] |
Chr1:16055227 [GRCh38] Chr1:16381722 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.782-147G>A |
single nucleotide variant |
not provided [RCV001610994] |
Chr1:16049471 [GRCh38] Chr1:16375966 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+146C>G |
single nucleotide variant |
not provided [RCV001695330] |
Chr1:16052557 [GRCh38] Chr1:16379052 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1622+74G>C |
single nucleotide variant |
not provided [RCV001674295] |
Chr1:16052485 [GRCh38] Chr1:16378980 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1930-268T>C |
single nucleotide variant |
not provided [RCV001649801] |
Chr1:16056154 [GRCh38] Chr1:16382649 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1845+68C>T |
single nucleotide variant |
not provided [RCV001609329] |
Chr1:16055591 [GRCh38] Chr1:16382086 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1228-103C>T |
single nucleotide variant |
not provided [RCV001673576] |
Chr1:16051375 [GRCh38] Chr1:16377870 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.655+133G>A |
single nucleotide variant |
not provided [RCV001715421] |
Chr1:16048715 [GRCh38] Chr1:16375210 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1930-87_1930-85del |
deletion |
not provided [RCV001537241] |
Chr1:16056333..16056335 [GRCh38] Chr1:16382828..16382830 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.-7-269T>C |
single nucleotide variant |
not provided [RCV001716593] |
Chr1:16044217 [GRCh38] Chr1:16370712 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.656-261C>T |
single nucleotide variant |
not provided [RCV001673990] |
Chr1:16048859 [GRCh38] Chr1:16375354 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.229+102T>G |
single nucleotide variant |
not provided [RCV001693734] |
Chr1:16045788 [GRCh38] Chr1:16372283 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.498+51C>T |
single nucleotide variant |
not provided [RCV001710236] |
Chr1:16048095 [GRCh38] Chr1:16374590 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1756+136A>T |
single nucleotide variant |
not provided [RCV001609771] |
Chr1:16053908 [GRCh38] Chr1:16380403 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.-7-190C>G |
single nucleotide variant |
not provided [RCV001617096] |
Chr1:16044296 [GRCh38] Chr1:16370791 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1757-212T>C |
single nucleotide variant |
not provided [RCV001536488] |
Chr1:16055223 [GRCh38] Chr1:16381718 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1408+188_1409-186dup |
duplication |
not provided [RCV001762894] |
Chr1:16052004..16052005 [GRCh38] Chr1:16378499..16378500 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1163G>A (p.Trp388Ter) |
single nucleotide variant |
not provided [RCV001780513] |
Chr1:16050984 [GRCh38] Chr1:16377479 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met) |
single nucleotide variant |
not provided [RCV001780514] |
Chr1:16048352 [GRCh38] Chr1:16374847 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1227+23G>A |
single nucleotide variant |
not provided [RCV001753291] |
Chr1:16051071 [GRCh38] Chr1:16377566 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.806C>G (p.Thr269Ser) |
single nucleotide variant |
not specified [RCV001806774] |
Chr1:16049642 [GRCh38] Chr1:16376137 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.652A>C (p.Ser218Arg) |
single nucleotide variant |
Bartter disease type 3 [RCV001808864] |
Chr1:16048579 [GRCh38] Chr1:16375074 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1306A>T (p.Ile436Phe) |
single nucleotide variant |
not specified [RCV001806773] |
Chr1:16051718 [GRCh38] Chr1:16378213 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1408G>T (p.Gly470Trp) |
single nucleotide variant |
Bartter disease type 3 [RCV001823473] |
Chr1:16051820 [GRCh38] Chr1:16378315 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.889A>G (p.Ser297Gly) |
single nucleotide variant |
not provided [RCV001874895] |
Chr1:16049837 [GRCh38] Chr1:16376332 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1612C>T (p.Arg538Cys) |
single nucleotide variant |
not provided [RCV001971322] |
Chr1:16052401 [GRCh38] Chr1:16378896 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1477G>A (p.Gly493Ser) |
single nucleotide variant |
not provided [RCV001864379] |
Chr1:16052266 [GRCh38] Chr1:16378761 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 |
copy number loss |
not provided [RCV001832902] |
Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.747G>A (p.Met249Ile) |
single nucleotide variant |
not provided [RCV001948871] |
Chr1:16049211 [GRCh38] Chr1:16375706 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.98G>A (p.Arg33Gln) |
single nucleotide variant |
not provided [RCV002004553] |
Chr1:16044590 [GRCh38] Chr1:16371085 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.295T>C (p.Tyr99His) |
single nucleotide variant |
not provided [RCV001948666] |
Chr1:16046600 [GRCh38] Chr1:16373095 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.774C>A (p.Ser258Arg) |
single nucleotide variant |
not provided [RCV001893691] |
Chr1:16049238 [GRCh38] Chr1:16375733 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.309_310insAG (p.Val104fs) |
insertion |
not provided [RCV001890269] |
Chr1:16046614..16046615 [GRCh38] Chr1:16373109..16373110 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.1021C>T (p.Pro341Ser) |
single nucleotide variant |
not provided [RCV002041412] |
Chr1:16050568 [GRCh38] Chr1:16377063 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.577-6C>T |
single nucleotide variant |
not provided [RCV001916580] |
Chr1:16048498 [GRCh38] Chr1:16374993 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1630C>T (p.Arg544Cys) |
single nucleotide variant |
not provided [RCV002038635] |
Chr1:16053646 [GRCh38] Chr1:16380141 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1574T>C (p.Ile525Thr) |
single nucleotide variant |
not provided [RCV002013649] |
Chr1:16052363 [GRCh38] Chr1:16378858 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.962C>A (p.Ala321Asp) |
single nucleotide variant |
not provided [RCV002015067] |
Chr1:16049910 [GRCh38] Chr1:16376405 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.280C>A (p.Leu94Ile) |
single nucleotide variant |
not provided [RCV002037520] |
Chr1:16046585 [GRCh38] Chr1:16373080 [GRCh37] Chr1:1p36.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000085.5(CLCNKB):c.1633G>T (p.Val545Leu) |
single nucleotide variant |
not provided [RCV001976832] |
Chr1:16053649 [GRCh38] Chr1:16380144 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.232C>T (p.His78Tyr) |
single nucleotide variant |
not provided [RCV001899503] |
Chr1:16046537 [GRCh38] Chr1:16373032 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.385A>G (p.Met129Val) |
single nucleotide variant |
not provided [RCV001971860] |
Chr1:16047931 [GRCh38] Chr1:16374426 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1784G>A (p.Arg595Gln) |
single nucleotide variant |
not provided [RCV001867766] |
Chr1:16055462 [GRCh38] Chr1:16381957 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1051C>T (p.Arg351Trp) |
single nucleotide variant |
not provided [RCV001951267] |
Chr1:16050598 [GRCh38] Chr1:16377093 [GRCh37] Chr1:1p36.13 |
pathogenic |
NM_000085.5(CLCNKB):c.320C>T (p.Ser107Phe) |
single nucleotide variant |
not provided [RCV001902957] |
Chr1:16046625 [GRCh38] Chr1:16373120 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1667C>T (p.Thr556Ile) |
single nucleotide variant |
not provided [RCV001907504] |
Chr1:16053683 [GRCh38] Chr1:16380178 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1623T>C (p.Gly541=) |
single nucleotide variant |
not provided [RCV001885866] |
Chr1:16053639 [GRCh38] Chr1:16380134 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.551G>T (p.Arg184Leu) |
single nucleotide variant |
not provided [RCV002048589] |
Chr1:16048395 [GRCh38] Chr1:16374890 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1357G>A (p.Val453Met) |
single nucleotide variant |
not provided [RCV001879317] |
Chr1:16051769 [GRCh38] Chr1:16378264 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1512G>A (p.Ala504=) |
single nucleotide variant |
not provided [RCV002030013] |
Chr1:16052301 [GRCh38] Chr1:16378796 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.529G>T (p.Ala177Ser) |
single nucleotide variant |
not provided [RCV001877269] |
Chr1:16048373 [GRCh38] Chr1:16374868 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.230C>T (p.Ala77Val) |
single nucleotide variant |
not provided [RCV002036127] |
Chr1:16046535 [GRCh38] Chr1:16373030 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1463C>A (p.Ala488Asp) |
single nucleotide variant |
not provided [RCV001885976] |
Chr1:16052252 [GRCh38] Chr1:16378747 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.101G>A (p.Gly34Asp) |
single nucleotide variant |
not provided [RCV001935343] |
Chr1:16045558 [GRCh38] Chr1:16372053 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_000085.5(CLCNKB):c.1080G>A (p.Ser360=) |
single nucleotide variant |
not provided [RCV002075077] |
Chr1:16050901 [GRCh38] Chr1:16377396 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1408+13G>T |
single nucleotide variant |
not provided [RCV002106025] |
Chr1:16051833 [GRCh38] Chr1:16378328 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.873C>T (p.Leu291=) |
single nucleotide variant |
not provided [RCV002206326] |
Chr1:16049821 [GRCh38] Chr1:16376316 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1797G>T (p.Leu599=) |
single nucleotide variant |
not provided [RCV002209190] |
Chr1:16055475 [GRCh38] Chr1:16381970 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.499-18C>G |
single nucleotide variant |
not provided [RCV002087201] |
Chr1:16048325 [GRCh38] Chr1:16374820 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1929+5C>T |
single nucleotide variant |
not provided [RCV002187034] |
Chr1:16055763 [GRCh38] Chr1:16382258 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1227+11T>C |
single nucleotide variant |
not provided [RCV002116539] |
Chr1:16051059 [GRCh38] Chr1:16377554 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.2016+18del |
deletion |
not provided [RCV002171012] |
Chr1:16056522 [GRCh38] Chr1:16383017 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.225C>G (p.Val75=) |
single nucleotide variant |
not provided [RCV002107033] |
Chr1:16045682 [GRCh38] Chr1:16372177 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1551C>G (p.Pro517=) |
single nucleotide variant |
not provided [RCV002197341] |
Chr1:16052340 [GRCh38] Chr1:16378835 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.656-20G>C |
single nucleotide variant |
not provided [RCV002092377] |
Chr1:16049100 [GRCh38] Chr1:16375595 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.282C>T (p.Leu94=) |
single nucleotide variant |
not provided [RCV002112373] |
Chr1:16046587 [GRCh38] Chr1:16373082 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.2016+13C>T |
single nucleotide variant |
not provided [RCV002133293] |
Chr1:16056521 [GRCh38] Chr1:16383016 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.2016+19C>T |
single nucleotide variant |
not provided [RCV002196147] |
Chr1:16056527 [GRCh38] Chr1:16383022 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1756+10C>T |
single nucleotide variant |
not provided [RCV002133864] |
Chr1:16053782 [GRCh38] Chr1:16380277 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1149C>T (p.Asp383=) |
single nucleotide variant |
not provided [RCV002080411] |
Chr1:16050970 [GRCh38] Chr1:16377465 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1053+9C>A |
single nucleotide variant |
not provided [RCV002153432] |
Chr1:16050609 [GRCh38] Chr1:16377104 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1948C>T (p.Leu650=) |
single nucleotide variant |
not provided [RCV002139668] |
Chr1:16056440 [GRCh38] Chr1:16382935 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.498+15G>T |
single nucleotide variant |
not provided [RCV002217054] |
Chr1:16048059 [GRCh38] Chr1:16374554 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.655+17C>T |
single nucleotide variant |
not provided [RCV002162815] |
Chr1:16048599 [GRCh38] Chr1:16375094 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.782-18A>G |
single nucleotide variant |
not provided [RCV002101763] |
Chr1:16049600 [GRCh38] Chr1:16376095 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.112T>C (p.Trp38Arg) |
single nucleotide variant |
not provided [RCV002135342] |
Chr1:16045569 [GRCh38] Chr1:16372064 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1154A>G (p.Gln385Arg) |
single nucleotide variant |
not provided [RCV002101849] |
Chr1:16050975 [GRCh38] Chr1:16377470 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1452G>A (p.Thr484=) |
single nucleotide variant |
not provided [RCV002117707] |
Chr1:16052241 [GRCh38] Chr1:16378736 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.358+20G>A |
single nucleotide variant |
not provided [RCV002122938] |
Chr1:16046683 [GRCh38] Chr1:16373178 [GRCh37] Chr1:1p36.13 |
benign |
NM_000085.5(CLCNKB):c.1405G>A (p.Ala469Thr) |
single nucleotide variant |
not provided [RCV002100208] |
Chr1:16051817 [GRCh38] Chr1:16378312 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1192A>G (p.Ile398Val) |
single nucleotide variant |
not provided [RCV002184591] |
Chr1:16051013 [GRCh38] Chr1:16377508 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_000085.5(CLCNKB):c.1254_1255inv (p.Ile419Val) |
inversion |
not provided [RCV002217293] |
Chr1:16051504..16051505 [GRCh38] Chr1:16377999..16378000 [GRCh37] Chr1:1p36.13 |
benign |