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Links from MedGen

Items: 97

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:16358977
GRCh38:
Chr1:16032482
CLCNKA, LOC106501712E586*, E628*, E629*Bartter disease type 4BLikely pathogenic
(Feb 1, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr1:16359707
GRCh38:
Chr1:16033212
CLCNKA, LOC106501712V657M, V658M, V615MInborn genetic diseases, Bartter disease type 4BUncertain significance
(Mar 1, 2023)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:16356972-16356973
GRCh38:
Chr1:16030477-16030478
LOC106501712, CLCNKAA434fs, A477fsBartter disease type 4BUncertain significance
(Feb 23, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr1:16383022
GRCh38:
Chr1:16056527
LOC106501713, CLCNKBBartter disease type 4B, Bartter disease type 3, not provided
Benign/Likely benign
(Aug 1, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:16377554
GRCh38:
Chr1:16051059
CLCNKB, LOC106501713not provided, Bartter disease type 3, Bartter disease type 4B
Likely benign
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:16377470
GRCh38:
Chr1:16050975
LOC106501713, CLCNKBQ216R, Q385RBartter disease type 4B, Bartter disease type 3, not provided
Benign/Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:16376095
GRCh38:
Chr1:16049600
LOC106501713, CLCNKBBartter disease type 4B, Bartter disease type 3, not provided
Benign/Likely benign
(Aug 25, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:16373178
GRCh38:
Chr1:16046683
LOC106501713, CLCNKBBartter disease type 3, Bartter disease type 4B, not provided
Benign/Likely benign
(Sep 17, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:16377396
GRCh38:
Chr1:16050901
CLCNKB, LOC106501713Bartter disease type 4B, Bartter disease type 3, not provided
Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:16377465
GRCh38:
Chr1:16050970
CLCNKB, LOC106501713not provided, Bartter disease type 3, Bartter disease type 4B
Likely benign
(Mar 7, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:16381970
GRCh38:
Chr1:16055475
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:16373030
GRCh38:
Chr1:16046535
CLCNKB, LOC106501713A77Vnot provided, Bartter disease type 3, Bartter disease type 4B
Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:16380141
GRCh38:
Chr1:16053646
CLCNKB, LOC106501713R375C, R544Cnot provided, Bartter disease type 3, Bartter disease type 4B
Uncertain significance
(Dec 15, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:16378858
GRCh38:
Chr1:16052363
CLCNKB, LOC106501713I525T, I356TBartter disease type 4B, Bartter disease type 3, Inborn genetic diseases,
not provided		Uncertain significance
(Jun 7, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:16378896
GRCh38:
Chr1:16052401
CLCNKB, LOC106501713R369C, R538CBartter disease type 3, Bartter disease type 4B, not provided
Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:16371085
GRCh38:
Chr1:16044590
CLCNKBR33QBartter disease type 4B, Bartter disease type 3, not provided
Uncertain significance
(Apr 2, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:16375706
GRCh38:
Chr1:16049211
CLCNKB, LOC106501713M249I, M80Inot provided, Bartter disease type 3, Bartter disease type 4B
Uncertain significance
(May 27, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:16373095
GRCh38:
Chr1:16046600
CLCNKB, LOC106501713Y99HBartter disease type 4B, Bartter disease type 3, not provided
Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:16378747
GRCh38:
Chr1:16052252
CLCNKB, LOC106501713A319D, A488DBartter disease type 4B, Bartter disease type 3, Inborn genetic diseases,
not provided		Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:16374868
GRCh38:
Chr1:16048373
CLCNKB, LOC106501713A177SBartter disease type 3, Bartter disease type 4B, not provided
Uncertain significance
(Jan 20, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:16378796
GRCh38:
Chr1:16052301
LOC106501713, CLCNKBBartter disease type 4B, Bartter disease type 3, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr1:16374847
GRCh38:
Chr1:16048352
CLCNKB, LOC106501713V170Mnot provided, Bartter disease type 3, Bartter disease type 4B
Pathogenic
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:16383448
GRCh38:
Chr1:16056953
LOC106501713, CLCNKBnot provided, Bartter disease type 4B, Bartter disease type 3
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:16383336
GRCh38:
Chr1:16056841
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:16382880
GRCh38:
Chr1:16056385
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:16372971
GRCh38:
Chr1:16046476
CLCNKB, LOC106501713Bartter disease type 4B, Bartter disease type 3, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:16372003
GRCh38:
Chr1:16045508
CLCNKB, LOC106501713Bartter disease type 4B, Bartter disease type 3, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:16359052
GRCh38:
Chr1:16032557
CLCNKA, LOC106501712Bartter disease type 4B, not providedBenign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr1:16359051
GRCh38:
Chr1:16032556
CLCNKA, LOC106501712Bartter disease type 4B, not providedBenign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:16358685
GRCh38:
Chr1:16032190
CLCNKA, LOC106501712Bartter disease type 4B, not providedBenign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:16358148
GRCh38:
Chr1:16031653
CLCNKA, LOC106501712Bartter disease type 4B, not providedBenign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:16356583
GRCh38:
Chr1:16030088
CLCNKA, LOC106501712Bartter disease type 4B, not providedBenign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:16382877
GRCh38:
Chr1:16056382
LOC106501713, CLCNKBBartter disease type 3, Bartter disease type 4B, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:16376458
GRCh38:
Chr1:16049963
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:16376278
GRCh38:
Chr1:16049783
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:16376239
GRCh38:
Chr1:16049744
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:16376232
GRCh38:
Chr1:16049737
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:16374330
GRCh38:
Chr1:16047835
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:16374622
GRCh38:
Chr1:16048127
CLCNKB, LOC106501713not provided, Bartter disease type 3, Bartter disease type 4B
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:16354280
GRCh38:
Chr1:16027785
CLCNKA, LOC106501712Bartter disease type 4B, not providedBenign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr1:16370960-16383841
CLCNKBBartter disease type 3, Bartter disease type 4BPathogenicno assertion criteria provided
42.
GRCh37:
Chr1:16373074
GRCh38:
Chr1:16046579
CLCNKB, LOC106501713R92WBartter disease type 3, Bartter disease type 4BPathogenic
(Jun 30, 2021)		criteria provided, single submitter
43.
GRCh37:
Chr1:16356501
GRCh38:
Chr1:16030006
CLCNKA, LOC106501712A404T, A447Tnot specified, Bartter disease type 4B, not provided
Benign
(Dec 16, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:16383348
GRCh38:
Chr1:16056853
CLCNKB, LOC106501713not provided, Bartter disease type 4B, Bartter disease type 3
Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:16372178
GRCh38:
Chr1:16045683
LOC106501713, CLCNKBR76*Bartter disease type 4B, Bartter disease type 3, Epilepsy, familial focal, with variable foci 1,
not provided		Pathogenic
(Dec 8, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:16377408
GRCh38:
Chr1:16050913
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:16378296
GRCh38:
Chr1:16051801
CLCNKB, LOC106501713Y297fs, Y466fsBartter disease type 3, Bartter disease type 4B, Bartter disease type 3,
not provided		Pathogenic
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:16378216
GRCh38:
Chr1:16051721
CLCNKB, LOC106501713G268R, G437RBartter disease type 3, not providedPathogenic
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:16376353
GRCh38:
Chr1:16049858
CLCNKB, LOC106501713R135*, R304*Bartter disease type 3, Bartter disease type 4B, not provided,
Autosomal dominant osteopetrosis 1, Bartter disease type 3		Pathogenic/Likely pathogenic
(Sep 28, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:16375667
GRCh38:
Chr1:16049172
CLCNKB, LOC106501713Y67*, Y236*Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3,
not provided		Pathogenic
(May 23, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:16378854
GRCh38:
Chr1:16052359
CLCNKB, LOC106501713V524I, V355IBartter disease type 3, Bartter disease type 4B, not provided
Benign/Likely benign
(Jan 31, 2023)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:16375063-16375064
GRCh38:
Chr1:16048568-16048569
CLCNKB, LOC106501713A214Gnot provided, Bartter disease type 3, Bartter disease type 4B
Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:16376125
GRCh38:
Chr1:16049630
CLCNKB, LOC106501713S265C, S96Cnot provided, Bartter disease type 3, Bartter disease type 4B
Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:16383402
GRCh38:
Chr1:16056907
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:16373110
GRCh38:
Chr1:16046615
CLCNKB, LOC106501713V104IBartter disease type 3, Bartter disease type 4B, not provided
Benign/Likely benign
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:16354394
GRCh38:
Chr1:16027899
CLCNKA, LOC106501712A244V, A287VBartter disease type 4B, not providedBenign/Likely benign
(Feb 25, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:16371039
GRCh38:
Chr1:16044544
CLCNKBnot provided, Bartter disease type 3, Bartter disease type 4B
Likely benign
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:16376171
GRCh38:
Chr1:16049676
CLCNKB, LOC106501713Bartter disease type 4B, Bartter disease type 3, not provided
Likely benign
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr1:16376420
GRCh38:
Chr1:16049925
CLCNKB, LOC106501713not provided, Bartter disease type 3, Bartter disease type 4B
Likely benign
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:16354505
GRCh38:
Chr1:16028010
CLCNKA, LOC106501712not provided, Bartter disease type 4BBenign
(Mar 9, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:16357159
GRCh38:
Chr1:16030664
LOC106501712, CLCNKAR495C, R538Cnot provided, Bartter disease type 4BConflicting interpretations of pathogenicity
(Dec 31, 2019)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr1:16354581
GRCh38:
Chr1:16028086
CLCNKA, LOC106501712T312I, T269Inot provided, Bartter disease type 4BConflicting interpretations of pathogenicity
(Dec 31, 2019)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr1:16380200
GRCh38:
Chr1:16053705
CLCNKB, LOC106501713not provided, Bartter disease type 3, Bartter disease type 4B
Likely benign
(Sep 4, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:16382958
GRCh38:
Chr1:16056463
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Benign/Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:16382911
GRCh38:
Chr1:16056416
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4B, not provided
Benign/Likely benign
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:16378853
GRCh38:
Chr1:16052358
CLCNKB, LOC106501713not provided, Bartter disease type 3, Bartter disease type 4B
Likely benign
(Jun 7, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:16349131
GRCh38:
Chr1:16022636
CLCNKAG6EBartter disease type 4BUncertain significance
(Apr 27, 2019)		criteria provided, single submitter
68.
GRCh37:
Chr1:16375038
GRCh38:
Chr1:16048543
CLCNKB, LOC106501713A206SBartter disease type 4B, Bartter disease type 3Uncertain significance
(Mar 29, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr1:16349169
GRCh38:
Chr1:16022674
CLCNKAQ19*Bartter disease type 4B, Bartter disease type 3, Sensorineural hearing impairment
Conflicting interpretations of pathogenicity
(Sep 30, 2020)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr1:16371001-16371002
GRCh38:
Chr1:16044506-16044507
CLCNKBL7fsBartter disease type 3, Bartter disease type 4B, Bartter disease type 3,
not provided		Pathogenic
(Feb 23, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:16378282
GRCh38:
Chr1:16051787
CLCNKB, LOC106501713N459H, N290Hnot provided, Inborn genetic diseases, Bartter disease type 3,
Bartter disease type 4B		Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:16351275
GRCh38:
Chr1:16024780
CLCNKA, LOC106501712R83Gnot provided, not specified, Bartter disease type 4B
Benign
(Dec 16, 2021)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:16358932
GRCh38:
Chr1:16032437
CLCNKA, LOC106501712Bartter disease type 4B, not providedBenign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:16357160
GRCh38:
Chr1:16030665
CLCNKA, LOC106501712R538P, R495PBartter disease type 4BUncertain significance
(Mar 5, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr1:16375063
GRCh38:
Chr1:16048568
LOC106501713, CLCNKBA214Gnot provided, not specified, Bartter disease type 4B,
Bartter disease type 3		Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:16375064
GRCh38:
Chr1:16048569
CLCNKB, LOC106501713not specified, not provided, Bartter disease type 4B,
Bartter disease type 3		Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:16376191
GRCh38:
Chr1:16049696
CLCNKB, LOC106501713A287V, A118Vnot specified, not provided, Bartter disease type 3,
Bartter disease type 4B		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:16371067
GRCh38:
Chr1:16044572
CLCNKBR27Lnot specified, not provided, Bartter disease type 3,
Bartter disease type 4B		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:16374533
GRCh38:
Chr1:16048038
CLCNKB, LOC106501713not specified, not provided, Bartter disease type 3,
Bartter disease type 4B		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:16373124
GRCh38:
Chr1:16046629
CLCNKB, LOC106501713not specified, not provided, Bartter disease type 3,
Bartter disease type 4B		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr1:16380252
GRCh38:
Chr1:16053757
CLCNKB, LOC106501713not specified, not provided, Bartter disease type 3,
Bartter disease type 4B		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:16380243
GRCh38:
Chr1:16053748
CLCNKB, LOC106501713K578E, K409Enot specified, not provided, Bartter disease type 3,
Bartter disease type 4B		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:16380196
GRCh38:
Chr1:16053701
LOC106501713, CLCNKBM562T, M393Tnot specified, Bartter disease type 3, not provided,
Bartter disease type 4B		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr1:16378795
GRCh38:
Chr1:16052300
CLCNKB, LOC106501713A504V, A335Vnot specified, Bartter disease type 3, Bartter disease type 4B,
not provided		Uncertain significance
(Aug 5, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:16374994
GRCh38:
Chr1:16048499
LOC106501713, CLCNKBnot specified, Bartter disease type 4B, Bartter disease type 3,
not provided		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:16376319
GRCh38:
Chr1:16049824
CLCNKB, LOC106501713not provided, not specified, Bartter disease type 3,
Bartter disease type 4B		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr1:16380203
GRCh38:
Chr1:16053708
LOC106501713, CLCNKBE565fs, E396fsnot provided, Bartter disease type 3, Bartter disease type 4B
Pathogenic
(Jul 1, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:16382219
GRCh38:
Chr1:16055724
LOC106501713, CLCNKBBartter disease type 3, Bartter disease type 4B, Bartter disease type 3
Pathogenic/Likely pathogenic
(Mar 17, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:16355714
GRCh38:
Chr1:16029219
CLCNKA, LOC106501712D383Y, D340YBartter disease type 4BUncertain significance
(Jul 19, 2021)		criteria provided, single submitter
90.
GRCh37:
Chr1:16371010
GRCh38:
Chr1:16044515
CLCNKBR8HBartter disease type 3, Bartter disease type 4BUncertain significance
(Mar 10, 2022)		criteria provided, single submitter
91.
GRCh37:
Chr1:16382989
GRCh38:
Chr1:16056494
CLCNKB, LOC106501713V668L, V498LBartter disease type 3, Bartter disease type 4BUncertain significance
(Feb 3, 2022)		criteria provided, single submitter
92.
GRCh37:
Chr1:16382931
GRCh38:
Chr1:16056436
CLCNKB, LOC106501713F648L, F478LBartter disease type 3, Bartter disease type 4BUncertain significance
(Sep 15, 2021)		criteria provided, single submitter
93.
GRCh37:
Chr1:16382003
GRCh38:
Chr1:16055508
CLCNKB, LOC106501713W610*, W441*Bartter disease type 4B, Bartter disease type 3, not provided
Pathogenic
(Apr 27, 2023)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:16376111
GRCh38:
Chr1:16049616
CLCNKB, LOC106501713Bartter disease type 3, Bartter disease type 4BPathogenic
(Aug 18, 2021)		criteria provided, single submitter
95.
GRCh37:
Chr1:16375032
GRCh38:
Chr1:16048537
CLCNKB, LOC106501713A204TBartter disease type 3, Bartter disease type 4B, not provided,
Bartter disease type 3		Pathogenic/Likely pathogenic
(Aug 11, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:16353927
GRCh38:
Chr1:16027432
CLCNKA, LOC106501712Q260*, Q217*Bartter disease type 4BPathogenic
(Mar 1, 2008)		no assertion criteria provided
97.
GRCh37:
Chr1:16351268
GRCh38:
Chr1:16024773
CLCNKA, LOC106501712W80CBartter disease type 4BPathogenic
(Mar 25, 2004)		no assertion criteria provided
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