Total 85 pathogenic variants reported for Renal tubular acidosis with progressive nerve deafness 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001692.4(ATP6V1B1):c.91C>T (p.Arg31Ter) SNV
Germline		 Chr2:70936045 Pathogenic Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121983 rs_121964879

5 SubmittersRCV000013011RCV001851814
NM_001692.4(ATP6V1B1):c.585+1G>A SNV
Germline		 Chr2:70960079 Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1701088 rs_782723581

3 SubmittersRCV000013013RCV001857338
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) SNV
Germline		 Chr2:70958113 Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness
Nephrolithiasis
Nephrocalcinosis
Condition: not provided
Distal renal tubular acidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121985 rs_121964880

9 SubmittersRCV000013014RCV000662318RCV001386294RCV001849262
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) SNV
Germline		 Chr2:70958103 Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness
Inborn genetic diseases
Condition: not provided
Gastric cancer
Ovarian serous cystadenocarcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121986 rs_121964881

7 SubmittersRCV000013015RCV000623792RCV001565148RCV005887475RCV005887476
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) SNV
Germline		 Chr2:70958135 Conflicting classifications of pathogenicity not specified
Renal tubular acidosis with progressive nerve deafness
Condition: not provided
ATP6V1B1-related disorder		 Criteria Provided
Conflicting Classifications
 CA133780 rs_147576439

7 SubmittersRCV000037205RCV000260310RCV000888129RCV003904914
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) SNV
Germline		 Chr2:70959974 Conflicting classifications of pathogenicity not specified
Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA133786 rs_114234874

15 SubmittersRCV000037208RCV000299123RCV000991559
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) SNV
Germline		 Chr2:70962806 Conflicting classifications of pathogenicity not specified
Renal tubular acidosis with progressive nerve deafness
Condition: not provided
ATP6V1B1-related disorder		 Criteria Provided
Conflicting Classifications
 CA175272 rs_145735762

13 SubmittersRCV000150169RCV000263713RCV000487883RCV003935260
NM_001692.4(ATP6V1B1):c.688-7T>C SNV
Germline		 Chr2:70961589 Conflicting classifications of pathogenicity not specified
Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Conflicting Classifications
 CA175274 rs_193240706

4 SubmittersRCV000150170RCV000840683RCV001139489
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) SNV
Germline		 Chr2:70964973 Conflicting classifications of pathogenicity not specified
Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA182049 rs_142905621

13 SubmittersRCV000155034RCV000490321RCV000885591
NM_001692.4(ATP6V1B1):c.785+1G>A SNV
Germline		 Chr2:70961694 Pathogenic Rare genetic deafness
Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA184066 rs_727504746

6 SubmittersRCV000156046RCV001045473RCV001271396
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp) SNV
Germline		 Chr2:70959020 Conflicting classifications of pathogenicity not specified
Hearing impairment
Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Conflicting Classifications
 CA185431 rs_727505222

4 SubmittersRCV000156720RCV001375115RCV002515034RCV005025239
NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=) SNV
Germline		 Chr2:70958060 Conflicting classifications of pathogenicity not specified
Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1700949 rs_376581983

4 SubmittersRCV000218278RCV000369118RCV001435064
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) SNV
Germline		 Chr2:70936031 Conflicting classifications of pathogenicity not specified
Condition: not provided
Renal tubular acidosis with progressive nerve deafness
ATP6V1B1-related disorder		 Criteria Provided
Conflicting Classifications
 CA1700827 rs_527738649

5 SubmittersRCV000222331RCV000766323RCV001274733RCV003929883
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) SNV
Germline		 Chr2:70963289 Pathogenic Condition: not provided
Renal tubular acidosis with progressive nerve deafness
Distal renal tubular acidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1701229 rs_781838938

8 SubmittersRCV000299711RCV000763500RCV001849357
NM_001692.4(ATP6V1B1):c.1308G>A (p.Glu436=) SNV
Germline		 Chr2:70964795 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10613895 rs_886056274

2 SubmittersRCV000350188RCV001445420
NM_001692.4(ATP6V1B1):c.1143+10T>C SNV
Germline		 Chr2:70963664 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1701267 rs_782112331

2 SubmittersRCV000289419RCV001423356
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) SNV
Germline		 Chr2:70964763 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided
ATP6V1B1-related disorder		 Criteria Provided
Conflicting Classifications
 CA1701326 rs_531239712

5 SubmittersRCV000292953RCV000597144RCV004752858
NM_001692.4(ATP6V1B1):c.119-10C>T SNV
Germline		 Chr2:70943648 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1700900 rs_782666539

2 SubmittersRCV000403881RCV001435948
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) SNV
Germline		 Chr2:70964819 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided
ATP6V1B1-related disorder		 Criteria Provided
Conflicting Classifications
 CA1701333 rs_372223196

5 SubmittersRCV000314784RCV000927851RCV003922461
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) SNV
Germline		 Chr2:70958399 Pathogenic Inborn genetic diseases
Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1700998 rs_782138777

6 SubmittersRCV000624912RCV000986767RCV001222461
NM_001692.4(ATP6V1B1):c.1248+1G>C SNV
Germline		 Chr2:70964543 Pathogenic Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347187880 rs_1553420702

5 SubmittersRCV000671126RCV001868251
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) SNV
Germline		 Chr2:70959977 Pathogenic Renal tubular acidosis with progressive nerve deafness Criteria Provided
Multiple Submitters
No Conflicts
 CA347181906 rs_1553419751

3 SubmittersRCV000670148
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) SNV
Germline		 Chr2:70963195 Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1701209 rs_145536062

4 SubmittersRCV000670146RCV000760546
NM_001692.4(ATP6V1B1):c.181C>T (p.Gln61Ter) SNV
Germline		 Chr2:70958052 Pathogenic/Likely pathogenic Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1700947 rs_373621560

2 SubmittersRCV001070701RCV005624429
NM_001692.4(ATP6V1B1):c.-19C>T SNV
Germline		 Chr2:70935936 Conflicting classifications of pathogenicity Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Conflicting Classifications
 CA1700803 rs_115563001

2 SubmittersRCV000844357RCV001143798
NM_001692.4(ATP6V1B1):c.612G>A (p.Ala204=) SNV
Germline		 Chr2:70960947 Conflicting classifications of pathogenicity Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Conflicting Classifications
 CA1701111 rs_782233102

2 SubmittersRCV000909801RCV001139486
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) SNV
Germline		 Chr2:70964965 Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347189267 rs_1572924733

3 SubmittersRCV000986768RCV001215274
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys) SNV
Germline		 Chr2:70959962 Pathogenic/Likely pathogenic Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1701066 rs_782500780

3 SubmittersRCV001054360RCV001836093
NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln) SNV
Germline		 Chr2:70964475 Conflicting classifications of pathogenicity Condition: not provided
Renal tubular acidosis
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Conflicting Classifications
 CA347187661 rs_1680670309

5 SubmittersRCV001057202RCV001328241RCV005029632
NM_001692.4(ATP6V1B1):c.567C>T (p.Ala189=) SNV
Germline		 Chr2:70960060 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1701083 rs_112442277

2 SubmittersRCV001139485RCV001428275
NM_001692.4(ATP6V1B1):c.1116C>T (p.Tyr372=) SNV
Germline		 Chr2:70963627 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1701261 rs_782264575

2 SubmittersRCV001140260RCV001392313
NM_001692.4(ATP6V1B1):c.1249-11C>T SNV
Germline		 Chr2:70964725 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1701318 rs_782803276

2 SubmittersRCV001142098RCV002559377
NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter) SNV
Germline		 Chr2:70936033 Pathogenic Renal tubular acidosis
Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347176822 rs_1288346981

3 SubmittersRCV001328240RCV003558784RCV006454724
NM_001692.4(ATP6V1B1):c.204C>T (p.Phe68=) SNV
Germline		 Chr2:70958075 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1700953 rs_371041253

3 SubmittersRCV001279885RCV001403868
NM_001692.4(ATP6V1B1):c.298G>A (p.Asp100Asn) SNV
Germline		 Chr2:70958357 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1700986 rs_531614845

4 SubmittersRCV001279886RCV001544578
NM_001692.4(ATP6V1B1):c.670G>A (p.Val224Ile) SNV
Germline		 Chr2:70961005 Conflicting classifications of pathogenicity not specified
Renal tubular acidosis with progressive nerve deafness
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1701120 rs_202215158

7 SubmittersRCV001449704RCV001832577RCV002557518RCV005749836
NM_001692.4(ATP6V1B1):c.318C>T (p.Cys106=) SNV
Germline		 Chr2:70958377 Conflicting classifications of pathogenicity Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Conflicting Classifications
 CA1700992 rs_782720902

2 SubmittersRCV001498958RCV005023177
NM_001692.4(ATP6V1B1):c.517G>A (p.Val173Ile) SNV
Germline		 Chr2:70960010 Conflicting classifications of pathogenicity Condition: not provided
Renal tubular acidosis with progressive nerve deafness
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1701076 rs_146293474

5 SubmittersRCV001546684RCV001832737RCV004039276
NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter) SNV
Germline		 Chr2:70936021 Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347176795 rs_1553415274

4 SubmittersRCV001785889RCV003728007
NM_001692.4(ATP6V1B1):c.925G>T (p.Glu309Ter) SNV
Germline		 Chr2:70963177 Pathogenic Renal tubular acidosis with progressive nerve deafness No Assertion Criteria Provided
 CA347185483 rs_2104831698

1 SubmittersRCV001801011
NM_001692.4(ATP6V1B1):c.1449G>T (p.Lys483Asn) SNV
Germline		 Chr2:70965028 Likely pathogenic Renal tubular acidosis with progressive nerve deafness Criteria Provided
Single Submitter
 CA347189547 rs_2104834809

1 SubmittersRCV001843327
NM_001692.4(ATP6V1B1):c.1060G>A (p.Asp354Asn) SNV
Germline		 Chr2:70963312 Likely pathogenic Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1701236 rs_782484337

3 SubmittersRCV003560870RCV001843691
NM_001692.4(ATP6V1B1):c.273+2T>A SNV
Germline		 Chr2:70958146 Likely pathogenic ATP6V1B1-related disorder
Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347180903 rs_1680488861

3 SubmittersRCV003408066RCV002486620RCV002040242
NM_001692.4(ATP6V1B1):c.123C>G (p.Tyr41Ter) SNV
Germline		 Chr2:70943662 Pathogenic/Likely pathogenic Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347178458 rs_782151715

2 SubmittersRCV002007589RCV005025515
NM_001692.4(ATP6V1B1):c.687+1G>T SNV
Germline		 Chr2:70961023 Pathogenic Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1701125 rs_782102147

2 SubmittersRCV002651473RCV003388161
NM_001692.4(ATP6V1B1):c.1386C>A (p.Tyr462Ter) SNV
Germline		 Chr2:70964965 Pathogenic/Likely pathogenic Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347189265 rs_1572924733

2 SubmittersRCV002900354RCV005028012
NM_001692.4(ATP6V1B1):c.448C>T (p.Gln150Ter) SNV
Germline		 Chr2:70959941 Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347181775 rs_1553419743

2 SubmittersRCV003226723RCV003708748
NM_001692.4(ATP6V1B1):c.541C>T (p.Gln181Ter) SNV
Germline		 Chr2:70960034 Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347182106 rs_1553419769

3 SubmittersRCV003337746RCV005103972
NM_001692.4(ATP6V1B1):c.403A>T (p.Lys135Ter) SNV
Germline		 Chr2:70959053 Likely pathogenic Renal tubular acidosis with progressive nerve deafness
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss		 Criteria Provided
Single Submitter
 CA347181517 rs_2466287299

1 SubmittersRCV003338028RCV004763657
NM_001692.4(ATP6V1B1):c.823A>C (p.Thr275Pro) SNV
Germline		 Chr2:70962814 Pathogenic/Likely pathogenic Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347184733 rs_1161604514

2 SubmittersRCV003554934RCV005030108
NM_001692.4(ATP6V1B1):c.988G>A (p.Glu330Lys) SNV
Germline		 Chr2:70963240 Conflicting classifications of pathogenicity Condition: not provided
Renal tubulopathies
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Conflicting Classifications
 CA1701213 rs_781800676

6 SubmittersRCV003554935RCV006272155RCV005036879
NM_001692.4(ATP6V1B1):c.988G>T (p.Glu330Ter) SNV
Germline		 Chr2:70963240 Pathogenic/Likely pathogenic Condition: not provided
Renal tubular acidosis with progressive nerve deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347186064 rs_781800676

2 SubmittersRCV003676169RCV005030161
NM_001692.4(ATP6V1B1):c.446-1G>A SNV
Germline		 Chr2:70959938 Likely pathogenic Condition: not provided
Renal tubular acidosis with progressive nerve deafness
Malignant tumor of urinary bladder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347181762 rs_1363121734

3 SubmittersRCV003847701RCV005030315RCV005935043
NM_001692.4(ATP6V1B1):c.319G>A (p.Glu107Lys) SNV
Germline		 Chr2:70958378 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_370511629

3 SubmittersRCV004585121RCV006332392
NM_001692.4(ATP6V1B1):c.274-2A>G SNV
Germline		 Chr2:70958331 Likely pathogenic Renal tubular acidosis with progressive nerve deafness Criteria Provided
Single Submitter

1 SubmittersRCV005026719
NM_001692.4(ATP6V1B1):c.687G>A (p.Gly229=) SNV
Germline		 Chr2:70961022 Likely pathogenic Renal tubular acidosis with progressive nerve deafness Criteria Provided
Single Submitter

1 SubmittersRCV005032393
NM_001692.4(ATP6V1B1):c.687+1G>A SNV
Germline		 Chr2:70961023 Likely pathogenic Renal tubular acidosis with progressive nerve deafness Criteria Provided
Single Submitter

1 SubmittersRCV005026729
NM_001692.4(ATP6V1B1):c.1061-12G>A SNV
Germline		 Chr2:70963560 Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005026737RCV006489195
NM_001692.4(ATP6V1B1):c.1061-1G>T SNV
Germline		 Chr2:70963571 Likely pathogenic Renal tubular acidosis with progressive nerve deafness Criteria Provided
Single Submitter

1 SubmittersRCV005026740
NM_001692.4(ATP6V1B1):c.1249-3C>G SNV
Germline		 Chr2:70964733 Likely pathogenic Renal tubular acidosis with progressive nerve deafness Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005026743
NM_001692.4(ATP6V1B1):c.1348C>T (p.Gln450Ter) SNV
Germline		 Chr2:70964835 Likely pathogenic Renal tubular acidosis with progressive nerve deafness Criteria Provided
Single Submitter

1 SubmittersRCV005026745
NM_001692.4(ATP6V1B1):c.1249-1G>C SNV
Germline		 Chr2:70964735 Likely pathogenic Renal tubular acidosis with progressive nerve deafness Criteria Provided
Single Submitter

1 SubmittersRCV005208343
NM_001692.4(ATP6V1B1):c.273+2T>C SNV
Germline		 Chr2:70958146 Likely pathogenic Renal tubular acidosis with progressive nerve deafness Criteria Provided
Single Submitter

1 SubmittersRCV005860645