| - GRCh37:
- Chr1:41298745
- GRCh38:
- Chr1:40833073
| KCNQ4 | D471N, D525N | Autosomal dominant nonsyndromic hearing loss 2A | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:41249997
- GRCh38:
- Chr1:40784325
| KCNQ4 | K78* | Autosomal dominant nonsyndromic hearing loss 2A | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:41282986
- GRCh38:
- Chr1:40817314
| KCNQ4 | Q122* | Autosomal dominant nonsyndromic hearing loss 2A | Likely pathogenic
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41303450
- GRCh38:
- Chr1:40837778
| KCNQ4 | V566D, V620D | Autosomal dominant nonsyndromic hearing loss 2A | Uncertain significance
(Aug 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41283915
- GRCh38:
- Chr1:40818243
| KCNQ4 | G162E | Inborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Uncertain significance
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41284321
- GRCh38:
- Chr1:40818649
| KCNQ4 | L226R | not provided, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 2A
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41284314
- GRCh38:
- Chr1:40818642
| KCNQ4 | W224R | Autosomal dominant nonsyndromic hearing loss 2A | Uncertain significance
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41285109
- GRCh38:
- Chr1:40819437
| KCNQ4 | F267V | Autosomal dominant nonsyndromic hearing loss 2A | Uncertain significance
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41285136
- GRCh38:
- Chr1:40819464
| KCNQ4 | W276R | Autosomal dominant nonsyndromic hearing loss 2A | Likely pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41296805
- GRCh38:
- Chr1:40831133
| KCNQ4 | R394W, R448W | Inborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41289870
- GRCh38:
- Chr1:40824198
| KCNQ4 | R411H | Autosomal dominant nonsyndromic hearing loss 2A, not provided | Conflicting interpretations of pathogenicity
(Feb 15, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:41289840
- GRCh38:
- Chr1:40824168
| KCNQ4 | R401Q | not provided, Autosomal dominant nonsyndromic hearing loss 2A, Inborn genetic diseases
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41250004-41250005
- GRCh38:
- Chr1:40784332-40784333
| KCNQ4 | | not provided, Autosomal dominant nonsyndromic hearing loss 2A | Uncertain significance
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41296965
- GRCh38:
- Chr1:40831293
| KCNQ4 | T447I, T501I | Autosomal dominant nonsyndromic hearing loss 2A | not provided | no assertion provided |
| - GRCh37:
- Chr1:41284330
- GRCh38:
- Chr1:40818658
| KCNQ4 | S229L | Autosomal dominant nonsyndromic hearing loss 2A, Inborn genetic diseases, not provided
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41296962
- GRCh38:
- Chr1:40831290
| KCNQ4 | R446H, R500H | not provided, Autosomal dominant nonsyndromic hearing loss 2A, Inborn genetic diseases
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41284309
- GRCh38:
- Chr1:40818637
| KCNQ4 | G222D | Autosomal dominant nonsyndromic hearing loss 2A, not provided | Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41296926
- GRCh38:
- Chr1:40831254
| KCNQ4 | R434H, R488H | Autosomal dominant nonsyndromic hearing loss 2A, not specified, not provided,
Inborn genetic diseases | Uncertain significance
(Aug 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41289905
- GRCh38:
- Chr1:40824233
| KCNQ4 | S423G | Autosomal dominant nonsyndromic hearing loss 2A, not provided | Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41289846
- GRCh38:
- Chr1:40824174
| KCNQ4 | P403L | not provided, Autosomal dominant nonsyndromic hearing loss 2A, Inborn genetic diseases
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285569
- GRCh38:
- Chr1:40819897
| KCNQ4 | Y286S | Autosomal dominant nonsyndromic hearing loss 2A | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:41283849
- GRCh38:
- Chr1:40818177
| KCNQ4 | I140T | not provided, Hearing impairment, Inborn genetic diseases,
Autosomal dominant nonsyndromic hearing loss 2A | Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41298737
- GRCh38:
- Chr1:40833065
| KCNQ4 | T522M, T468M | Autosomal dominant nonsyndromic hearing loss 2A | Uncertain significance
(May 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41285571
- GRCh38:
- Chr1:40819899
| KCNQ4 | G287S | Autosomal dominant nonsyndromic hearing loss 2A | Likely pathogenic
(Aug 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41296901
- GRCh38:
- Chr1:40831229
| KCNQ4 | Q480*, Q426* | Autosomal dominant nonsyndromic hearing loss 2A, not provided | Pathogenic/Likely pathogenic
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41304135
- GRCh38:
- Chr1:40838463
| KCNQ4 | | not provided, Autosomal dominant nonsyndromic hearing loss 2A, not specified
| Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41249941
- GRCh38:
- Chr1:40784269
| KCNQ4 | P59L | not provided, Autosomal dominant nonsyndromic hearing loss 2A | Benign/Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285144
- GRCh38:
- Chr1:40819472
| KCNQ4 | | Autosomal dominant nonsyndromic hearing loss 2A, not provided, not specified
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41289869
- GRCh38:
- Chr1:40824197
| KCNQ4 | R411C | Autosomal dominant nonsyndromic hearing loss 2A, not provided, not specified
| Benign/Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41250024-41250032
- GRCh38:
- Chr1:40784352-40784360
| KCNQ4 | | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Dec 7, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:41289897
- GRCh38:
- Chr1:40824225
| KCNQ4 | R420Q | Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 2A, not provided
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285106
- GRCh38:
- Chr1:40819434
| KCNQ4 | D266Y | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Dec 7, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:41249905
- GRCh38:
- Chr1:40784233
| KCNQ4 | L47P | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41285825
- GRCh38:
- Chr1:40820153
| KCNQ4 | | not specified, Autosomal dominant nonsyndromic hearing loss 2A, not provided
| Benign/Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41298744
- GRCh38:
- Chr1:40833072
| KCNQ4 | | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 2A
| Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41298689
- GRCh38:
- Chr1:40833017
| KCNQ4 | A506V, A452V | Autosomal dominant nonsyndromic hearing loss 2A, not specified, not provided
| Uncertain significance
(Apr 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285045
- GRCh38:
- Chr1:40819373
| KCNQ4 | | not specified, Autosomal dominant nonsyndromic hearing loss 2A, not provided
| Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41284326
- GRCh38:
- Chr1:40818654
| KCNQ4 | G228C | not specified, Autosomal dominant nonsyndromic hearing loss 2A, not provided
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41282919
- GRCh38:
- Chr1:40817247
| KCNQ4 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41282921
- GRCh38:
- Chr1:40817249
| KCNQ4 | | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285834
- GRCh38:
- Chr1:40820162
| KCNQ4 | | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 2A
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41298703
- GRCh38:
- Chr1:40833031
| KCNQ4 | V511I, V457I | not provided, Autosomal dominant nonsyndromic hearing loss 2A, not specified
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41289831
- GRCh38:
- Chr1:40824159
| KCNQ4 | E398G | not specified, Autosomal dominant nonsyndromic hearing loss 2A, not provided
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41296876
- GRCh38:
- Chr1:40831204
| KCNQ4 | | Autosomal dominant nonsyndromic hearing loss 2A, not specified, not provided
| Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41289942
- GRCh38:
- Chr1:40824270
| KCNQ4 | | not provided, Autosomal dominant nonsyndromic hearing loss 2A, not specified
| Benign/Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41304093
- GRCh38:
- Chr1:40838421
| KCNQ4 | | Autosomal dominant nonsyndromic hearing loss 2A, not specified, not provided
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41304146
- GRCh38:
- Chr1:40838474
| KCNQ4 | S680F, S626F | not provided | Likely pathogenic
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41287988-41287995
- GRCh38:
- Chr1:40822313-40822320
| KCNQ4 | | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Aug 20, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285603
- GRCh38:
- Chr1:40819931
| KCNQ4 | R297S | not provided | Uncertain significance
(Oct 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41285584
- GRCh38:
- Chr1:40819912
| KCNQ4 | P291L | not provided | Pathogenic
(Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41285583
- GRCh38:
- Chr1:40819911
| KCNQ4 | P291S | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Aug 20, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285133
- GRCh38:
- Chr1:40819461
| KCNQ4 | W275R | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Aug 20, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285118
- GRCh38:
- Chr1:40819446
| KCNQ4 | Y270H | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Aug 20, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285111-41285113
- GRCh38:
- Chr1:40819439-40819441
| KCNQ4 | S269del | Nonsyndromic genetic hearing loss | Pathogenic
(Jun 27, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr1:41284333
- GRCh38:
- Chr1:40818661
| KCNQ4 | V230E | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Aug 20, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:41249989-41249990
- GRCh38:
- Chr1:40784317-40784318
| KCNQ4 | H77fs | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Aug 20, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285139
- GRCh38:
- Chr1:40819467
| KCNQ4 | G277R | not specified, Autosomal dominant nonsyndromic hearing loss 2A | Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41283895
- GRCh38:
- Chr1:40818223
| KCNQ4 | | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 2A
| Benign/Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41283868
- GRCh38:
- Chr1:40818196
| KCNQ4 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41303409
- GRCh38:
- Chr1:40837737
| KCNQ4 | D606E, D552E | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41300693
- GRCh38:
- Chr1:40835021
| KCNQ4 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41296788
- GRCh38:
- Chr1:40831116
| KCNQ4 | M442T, M388T | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41289905
- GRCh38:
- Chr1:40824233
| KCNQ4 | S423R | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285863
- GRCh38:
- Chr1:40820191
| KCNQ4 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285571
- GRCh38:
- Chr1:40819899
| KCNQ4 | G287R | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Jun 20, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285035
- GRCh38:
- Chr1:40819363
| KCNQ4 | W242* | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Jun 20, 2013) | no assertion criteria provided |
| | | | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Jun 20, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285591
- GRCh38:
- Chr1:40819919
| KCNQ4 | | not specified, Autosomal dominant nonsyndromic hearing loss 2A, not provided
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285585
- GRCh38:
- Chr1:40819913
| KCNQ4 | | not specified, Autosomal dominant nonsyndromic hearing loss 2A, not provided
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285553
- GRCh38:
- Chr1:40819881
| KCNQ4 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285087
- GRCh38:
- Chr1:40819415
| KCNQ4 | | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41284366
- GRCh38:
- Chr1:40818694
| KCNQ4 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41300690
- GRCh38:
- Chr1:40835018
| KCNQ4 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41300682
- GRCh38:
- Chr1:40835010
| KCNQ4 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41296828
- GRCh38:
- Chr1:40831156
| KCNQ4 | H455Q, H401Q | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41289826
- GRCh38:
- Chr1:40824154
| KCNQ4 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285095
- GRCh38:
- Chr1:40819423
| KCNQ4 | D262V | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Aug 20, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285088
- GRCh38:
- Chr1:40819416
| KCNQ4 | E260K | not provided | Uncertain significance
(Jun 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41284292
- GRCh38:
- Chr1:40818620
| KCNQ4 | | not provided, Autosomal dominant nonsyndromic hearing loss 2A | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:41284190
- GRCh38:
- Chr1:40818518
| KCNQ4, LOC129930282 | F182L | not specified, not provided | Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:41296966
- GRCh38:
- Chr1:40831294
| KCNQ4 | | Autosomal dominant nonsyndromic hearing loss 2A | not provided | no assertion provided |
| - GRCh37:
- Chr1:41285598
- GRCh38:
- Chr1:40819926
| KCNQ4 | G296S | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Aug 20, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:41249975
- GRCh38:
- Chr1:40784303
| KCNQ4 | Q71fs | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Jan 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285131
- GRCh38:
- Chr1:40819459
| KCNQ4 | L274H | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Aug 20, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285554
- GRCh38:
- Chr1:40819882
| KCNQ4 | L281S | not provided, Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41249976-41249988
- GRCh38:
- Chr1:40784304-40784316
| KCNQ4 | Q71fs | Autosomal dominant nonsyndromic hearing loss 2A | Pathogenic
(Nov 22, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:41285565
- GRCh38:
- Chr1:40819893
| KCNQ4 | G285C | not provided | Pathogenic
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41285852
- GRCh38:
- Chr1:40820180
| KCNQ4 | G321S | Rare genetic deafness, not provided, Autosomal dominant nonsyndromic hearing loss 2A
| Pathogenic/Likely pathogenic
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:41285137
- GRCh38:
- Chr1:40819465
| KCNQ4 | W276S | Rare genetic deafness | Pathogenic
(Jun 24, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41285565
- GRCh38:
- Chr1:40819893
| KCNQ4 | G285S | Nonsyndromic genetic hearing loss | Pathogenic
(Sep 11, 2018) | reviewed by expert panel
FDA Recognized Database |