| NM_000085.4(CLCNKB):c.1783C>T (p.Arg595Ter) |
single nucleotide variant |
Bartter syndrome type 3 [RCV000986258]|not provided [RCV000518074] |
Chr1:16055461 [GRCh38]
Chr1:16381956 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.4(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_000085.4(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 syndrome type 3 [RCV000008034] |
Chr1:1p36 |
pathogenic |
| NM_000085.5(CLCNKB):c.782-2A>G |
single nucleotide variant |
Bartter syndrome type 3 [RCV000008035] |
Chr1:16049616 [GRCh38]
Chr1:16376111 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| CLCNKB, DEL |
deletion |
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS [RCV000008036] |
Chr1:1p36 |
pathogenic |
| NM_000085.4(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_000085.4(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_000085.4(CLCNKB):c.1391G>C (p.Gly464Ala) |
single nucleotide variant |
not provided [RCV000722298] |
Chr1:16051803 [GRCh38]
Chr1:16378298 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(CLCNKB):c.73del (p.Cys25fs) |
deletion |
not provided [RCV000518266] |
Chr1:16044565 [GRCh38]
Chr1:16371060 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.4(CLCNKB):c.1685T>C (p.Met562Thr) |
single nucleotide variant |
not specified [RCV000516781] |
Chr1:16053701 [GRCh38]
Chr1:16380196 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(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_000085.4(CLCNKB):c.1631_1632delinsAT (p.Arg544His) |
indel |
not specified [RCV000518532] |
Chr1:16053647..16053648 [GRCh38]
Chr1:16380142..16380143 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(CLCNKB):c.1879C>A (p.Pro627Thr) |
single nucleotide variant |
not specified [RCV000518643] |
Chr1:16055708 [GRCh38]
Chr1:16382203 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(CLCNKB):c.371C>T (p.Pro124Leu) |
single nucleotide variant |
Bartter syndrome type 3 [RCV000008029] |
Chr1:16047917 [GRCh38]
Chr1:16374412 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.5(CLCNKB):c.610G>A |
single nucleotide variant |
Bartter syndrome type 3 [RCV000008030] |
Chr1:16048537 [GRCh38]
Chr1:16375032 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) |
single nucleotide variant |
Bartter syndrome type 3 [RCV000008031]|not provided [RCV000054563] |
Chr1:16051724 [GRCh38]
Chr1:16378219 [GRCh37]
Chr1:1p36.13 |
pathogenic|uncertain significance |
| NM_000085.4(CLCNKB):c.1046C>A (p.Ala349Asp) |
single nucleotide variant |
Bartter syndrome type 3 [RCV000008032] |
Chr1:16050593 [GRCh38]
Chr1:16377088 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.4(CLCNKB):c.1294T>C (p.Tyr432His) |
single nucleotide variant |
Bartter syndrome type 3 [RCV000008033] |
Chr1:16051544 [GRCh38]
Chr1:16378039 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.4(CLCNKB):c.1830G>A (p.Trp610Ter) |
single nucleotide variant |
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_000085.4(CLCNKB):c.1675G>A (p.Ala559Thr) |
single nucleotide variant |
not provided [RCV000054564] |
Chr1:16053691 [GRCh38]
Chr1:16380186 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(CLCNKB):c.1944T>G (p.Phe648Leu) |
single nucleotide variant |
not provided [RCV000054565] |
Chr1:16056436 [GRCh38]
Chr1:16382931 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(CLCNKB):c.2002G>C (p.Val668Leu) |
single nucleotide variant |
not provided [RCV000054566] |
Chr1:16056494 [GRCh38]
Chr1:16382989 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(CLCNKB):c.23G>A (p.Arg8His) |
single nucleotide variant |
not provided [RCV000054567] |
Chr1:16044515 [GRCh38]
Chr1:16371010 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(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_000085.4(CLCNKB):c.1897del (p.Thr632_Leu633insTer) |
deletion |
Bartter syndrome 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_000085.4(CLCNKB):c.1693del (p.Glu565fs) |
deletion |
not provided [RCV000224201] |
Chr1:16053708 [GRCh38]
Chr1:16380203 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.4(CLCNKB):c.80G>T (p.Arg27Leu) |
single nucleotide variant |
not provided [RCV000710106]|not specified [RCV000516547] |
Chr1:16044572 [GRCh38]
Chr1:16371067 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.1381dup (p.Ile461fs) |
duplication |
Bartter syndrome type 3 [RCV000408763] |
Chr1:16051792..16051793 [GRCh38]
Chr1:16378287..16378288 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.4(CLCNKB):c.1732A>G (p.Lys578Glu) |
single nucleotide variant |
not provided [RCV000710101]|not specified [RCV000518557] |
Chr1:16053748 [GRCh38]
Chr1:16380243 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.616G>T (p.Ala206Ser) |
single nucleotide variant |
not provided [RCV000722724] |
Chr1:16048543 [GRCh38]
Chr1:16375038 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(CLCNKB):c.865G>A (p.Gly289Arg) |
single nucleotide variant |
not provided [RCV000723231] |
Chr1:16049701 [GRCh38]
Chr1:16376196 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(CLCNKB):c.1741C>T (p.Leu581=) |
single nucleotide variant |
not provided [RCV000710102]|not specified [RCV000517156] |
Chr1:16053757 [GRCh38]
Chr1:16380252 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.324A>G (p.Ser108=) |
single nucleotide variant |
not provided [RCV000710103]|not specified [RCV000517867] |
Chr1:16046629 [GRCh38]
Chr1:16373124 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(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_000085.4(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_000085.4(CLCNKB):c.1979C>T (p.Ser660Leu) |
single nucleotide variant |
not provided [RCV000516911] |
Chr1:16056471 [GRCh38]
Chr1:16382966 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.262A>C (p.Ser88Arg) |
single nucleotide variant |
not specified [RCV000517361] |
Chr1:16046567 [GRCh38]
Chr1:16373062 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(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_000085.4(CLCNKB):c.577-5C>T |
single nucleotide variant |
not provided [RCV000710105]|not specified [RCV000417959] |
Chr1:16048499 [GRCh38]
Chr1:16374994 [GRCh37]
Chr1:1p36.13 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000085.4(CLCNKB):c.359G>T (p.Gly120Val) |
single nucleotide variant |
not provided [RCV000438277] |
Chr1:16047905 [GRCh38]
Chr1:16374400 [GRCh37]
Chr1:1p36.13 |
likely pathogenic |
| NM_000085.4(CLCNKB):c.876T>C (p.Cys292=) |
single nucleotide variant |
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_000085.4(CLCNKB):c.*271G>C |
single nucleotide variant |
not specified [RCV000455305] |
Chr1:16057187 [GRCh38]
Chr1:16383682 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(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_000085.4(CLCNKB):c.700T>C (p.Trp234Arg) |
single nucleotide variant |
Proteinuria [RCV000626587]|Proteinuria [RCV001197382] |
Chr1:16049164 [GRCh38]
Chr1:16375659 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(CLCNKB):c.642A>C (p.Ala214=) |
single nucleotide variant |
not specified [RCV000600330] |
Chr1:16048569 [GRCh38]
Chr1:16375064 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.1166G>A (p.Trp389Ter) |
single nucleotide variant |
not provided [RCV000595618] |
Chr1:16050987 [GRCh38]
Chr1:16377482 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.4(CLCNKB):c.656-105G>A |
single nucleotide variant |
not specified [RCV000614321] |
Chr1:16049015 [GRCh38]
Chr1:16375510 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.1053+13G>C |
single nucleotide variant |
not specified [RCV000612034] |
Chr1:16050613 [GRCh38]
Chr1:16377108 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) |
duplication |
Proteinuria [RCV000626588]|Proteinuria [RCV001197383] |
Chr1:16049884..16049885 [GRCh38]
Chr1:16376379..16376380 [GRCh37]
Chr1:1p36.13 |
likely pathogenic |
| NM_000085.4(CLCNKB):c.492G>C (p.Gly164=) |
single nucleotide variant |
not provided [RCV000710104]|not specified [RCV000516446] |
Chr1:16048038 [GRCh38]
Chr1:16374533 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.860C>T (p.Ala287Val) |
single nucleotide variant |
not provided [RCV000710107]|not specified [RCV000517461] |
Chr1:16049696 [GRCh38]
Chr1:16376191 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.641C>G (p.Ala214Gly) |
single nucleotide variant |
Bartter syndrome type 3 [RCV000986251]|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_000085.4(CLCNKB):c.1255A>G (p.Ile419Val) |
single nucleotide variant |
not provided [RCV000711247] |
Chr1:16051505 [GRCh38]
Chr1:16378000 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.1308C>T (p.Ile436=) |
single nucleotide variant |
not provided [RCV000711248] |
Chr1:16051720 [GRCh38]
Chr1:16378215 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.1375A>C (p.Asn459His) |
single nucleotide variant |
not provided [RCV000711249] |
Chr1:16051787 [GRCh38]
Chr1:16378282 [GRCh37]
Chr1:1p36.13 |
uncertain significance |
| NM_000085.4(CLCNKB):c.1441A>T (p.Thr481Ser) |
single nucleotide variant |
not provided [RCV000711250] |
Chr1:16052230 [GRCh38]
Chr1:16378725 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.1455G>A (p.Ala485=) |
single nucleotide variant |
not provided [RCV000711251] |
Chr1:16052244 [GRCh38]
Chr1:16378739 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.1254C>T (p.Thr418=) |
single nucleotide variant |
not provided [RCV000711246] |
Chr1:16051504 [GRCh38]
Chr1:16377999 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.4(CLCNKB):c.18dup (p.Leu7fs) |
duplication |
Bartter syndrome type 3 [RCV000761590]|not provided [RCV000711252] |
Chr1:16044506..16044507 [GRCh38]
Chr1:16371001..16371002 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.4(CLCNKB):c.577-19del |
deletion |
not provided [RCV000711254] |
Chr1:16048483 [GRCh38]
Chr1:16374978 [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.910C>T (p.Arg304Ter) |
single nucleotide variant |
Bartter syndrome type 3 [RCV000986254] |
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] |
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] |
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] |
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 |
| 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 syndrome 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 syndrome type 3 [RCV000986255] |
Chr1:16051721 [GRCh38]
Chr1:16378216 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.5(CLCNKB):c.656-31del |
deletion |
Bartter syndrome type 3 [RCV000791187]|not specified [RCV001169945] |
Chr1:16049089 [GRCh38]
Chr1:16375584 [GRCh37]
Chr1:1p36.13 |
pathogenic|uncertain significance |
| 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 syndrome 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 syndrome type 3 [RCV000986256] |
Chr1:16051812 [GRCh38]
Chr1:16378307 [GRCh37]
Chr1:1p36.13 |
likely pathogenic |
| 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 syndrome type 3 [RCV000986252] |
Chr1:16049137 [GRCh38]
Chr1:16375632 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr) |
single nucleotide variant |
Seizures [RCV001196974] |
Chr1:16053745 [GRCh38]
Chr1:16380240 [GRCh37]
Chr1:1p36.13 |
benign |
| NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs) |
deletion |
Polyuria [RCV001196696] |
Chr1:16051801 [GRCh38]
Chr1:16378296 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| 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 |
| 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 |
| 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 |
Polyuria [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 syndrome type 3 [RCV000986257] |
Chr1:16052349 [GRCh38]
Chr1:16378844 [GRCh37]
Chr1:1p36.13 |
pathogenic |
| NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) |
single nucleotide variant |
Bartter syndrome type 3 [RCV001195134]|not provided [RCV000991835] |
Chr1:16051737 [GRCh38]
Chr1:16378232 [GRCh37]
Chr1:1p36.13 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1p36.13(chr1:16372179-16388605) |
copy number loss |
Bartter syndrome 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 |
Epilepsy, familial focal, with variable foci 1 [RCV001251481] |
Chr1:16045683 [GRCh38]
Chr1:16372178 [GRCh37]
Chr1:1p36.13 |
pathogenic|uncertain significance |
| 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 |
Gene-Chemical Interaction Annotations
