| - GRCh37:
- Chr14:31348141-31348146
- GRCh38:
- Chr14:30878935-30878940
| COCH, LOC100506071 | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Dec 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31346808
- GRCh38:
- Chr14:30877602
| LOC100506071, COCH | G103D, G38D | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31348118
- GRCh38:
- Chr14:30878912
| COCH, LOC100506071 | L114P, L179P | Autosomal dominant nonsyndromic hearing loss 9 | Pathogenic
(Sep 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31348106
- GRCh38:
- Chr14:30878900
| COCH, LOC100506071 | Q110R, Q175R | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Aug 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359811
- GRCh38:
- Chr14:30890605
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359622
- GRCh38:
- Chr14:30890416
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359565
- GRCh38:
- Chr14:30890359
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359429
- GRCh38:
- Chr14:30890223
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31349926
- GRCh38:
- Chr14:30880720
| COCH, LOC100506071 | | not provided, Autosomal dominant nonsyndromic hearing loss 9 | Likely benign
(Mar 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31348078
- GRCh38:
- Chr14:30878872
| COCH, LOC100506071 | Y166N, Y101N | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31348070
- GRCh38:
- Chr14:30878864
| COCH, LOC100506071 | R98Q, R163Q | Inborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 9
| Uncertain significance
(Nov 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31359374
- GRCh38:
- Chr14:30890168
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359355
- GRCh38:
- Chr14:30890149
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359339
- GRCh38:
- Chr14:30890133
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359336
- GRCh38:
- Chr14:30890130
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359242
- GRCh38:
- Chr14:30890036
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359234
- GRCh38:
- Chr14:30890028
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31348043
- GRCh38:
- Chr14:30878837
| COCH, LOC100506071 | P154H, P89H | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31346821
- GRCh38:
- Chr14:30877615
| COCH, LOC100506071 | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31346803
- GRCh38:
- Chr14:30877597
| COCH, LOC100506071 | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31344135
- GRCh38:
- Chr14:30874929
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31355477
- GRCh38:
- Chr14:30886271
| COCH, LOC100506071 | Y479F, Y544F | not provided, Autosomal dominant nonsyndromic hearing loss 9 | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:31355156
- GRCh38:
- Chr14:30885950
| COCH, LOC100506071 | I437T, I372T | Autosomal dominant nonsyndromic hearing loss 9 | Pathogenic
(Nov 21, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr14:31355191
- GRCh38:
- Chr14:30885985
| COCH, LOC100506071 | R384C, R449C | Autosomal dominant nonsyndromic hearing loss 9 | Likely pathogenic
(Dec 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31348049
- GRCh38:
- Chr14:30878843
| COCH, LOC100506071 | R91Q, R156Q | Autosomal dominant nonsyndromic hearing loss 9, not specified, not provided
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:31359609
- GRCh38:
- Chr14:30890403
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359404
- GRCh38:
- Chr14:30890198
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359272
- GRCh38:
- Chr14:30890066
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359055
- GRCh38:
- Chr14:30889849
| COCH | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31359036
- GRCh38:
- Chr14:30889830
| COCH | | not provided, Autosomal dominant nonsyndromic hearing loss 9 | Benign
(Dec 15, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31359024
- GRCh38:
- Chr14:30889818
| COCH | | not provided, Hearing loss, autosomal recessive 110, Autosomal dominant nonsyndromic hearing loss 9
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31359007
- GRCh38:
- Chr14:30889801
| COCH, LOC100506071 | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31358812
- GRCh38:
- Chr14:30889606
| COCH, LOC100506071 | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31355245
- GRCh38:
- Chr14:30886039
| COCH, LOC100506071 | I402V, I467V | not provided, Autosomal dominant nonsyndromic hearing loss 9, not specified
| Benign/Likely benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31355022
- GRCh38:
- Chr14:30885816
| COCH, LOC100506071 | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31354994
- GRCh38:
- Chr14:30885788
| COCH, LOC100506071 | | Autosomal dominant nonsyndromic hearing loss 9 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31353750
- GRCh38:
- Chr14:30884544
| COCH, LOC100506071 | | not provided, Autosomal dominant nonsyndromic hearing loss 9 | Benign/Likely benign
(Mar 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31355067
- GRCh38:
- Chr14:30885861
| COCH, LOC100506071 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 9
| Benign
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31349945
- GRCh38:
- Chr14:30880739
| COCH, LOC100506071 | | Nonsyndromic genetic hearing loss | Benign
(Feb 25, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr14:31355200
- GRCh38:
- Chr14:30885994
| COCH, LOC100506071 | L387F, L452F | Autosomal dominant nonsyndromic hearing loss 9 | Pathogenic
(Feb 16, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr14:31355012
- GRCh38:
- Chr14:30885806
| LOC100506071, COCH | R324Q, R389Q | not specified, not provided, COCH-related condition,
Autosomal dominant nonsyndromic hearing loss 9 | Conflicting interpretations of pathogenicity
(Mar 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:31355389
- GRCh38:
- Chr14:30886183
| COCH, LOC100506071 | I450V, I515V | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 9
| Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:31348684
- GRCh38:
- Chr14:30879478
| COCH, LOC100506071 | | Nonsyndromic genetic hearing loss | Benign
(Mar 25, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr14:31354707
- GRCh38:
- Chr14:30885501
| COCH, LOC100506071 | D281N, D346N | Nonsyndromic genetic hearing loss | Benign
(Feb 25, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr14:31355527
- GRCh38:
- Chr14:30886321
| COCH, LOC100506071 | | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 9
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31355311
- GRCh38:
- Chr14:30886105
| LOC100506071, COCH | Y424D, Y489D | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 9
| Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31355310
- GRCh38:
- Chr14:30886104
| COCH, LOC100506071 | | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 9
| Benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31355096
- GRCh38:
- Chr14:30885890
| COCH, LOC100506071 | T352S, T417S | Hearing loss, autosomal recessive 110, not provided, Autosomal dominant nonsyndromic hearing loss 9,
not specified | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31346939
- GRCh38:
- Chr14:30877733
| COCH, LOC100506071 | | not provided, Autosomal dominant nonsyndromic hearing loss 9 | Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:31358897
- GRCh38:
- Chr14:30889691
| COCH, LOC100506071 | E518G, E583G | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 9
| Benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31358879
- GRCh38:
- Chr14:30889673
| LOC100506071, COCH | M512T, M577T | Autosomal dominant nonsyndromic hearing loss 9 | Pathogenic
(Apr 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr14:31358969
- GRCh38:
- Chr14:30889763
| COCH, LOC100506071 | C542Y, C607Y | Autosomal dominant nonsyndromic hearing loss 9 | Pathogenic
(Apr 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr14:31358969
- GRCh38:
- Chr14:30889763
| COCH, LOC100506071 | C542F, C607F | Rare genetic deafness, not provided | Pathogenic
(Dec 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:31348132
- GRCh38:
- Chr14:30878926
| COCH, LOC100506071 | A119T, A184T | Nonsyndromic genetic hearing loss | Uncertain significance
(Jun 15, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr14:31348103
- GRCh38:
- Chr14:30878897
| COCH, LOC100506071 | I109N, I174N | not provided | Pathogenic
(Jun 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:31346846
- GRCh38:
- Chr14:30877640
| COCH, LOC100506071 | P51S, P116S | Nonsyndromic genetic hearing loss | Pathogenic
(Sep 19, 2018) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr14:31348126
- GRCh38:
- Chr14:30878920
| LOC100506071, COCH | W117R, W182R | Autosomal dominant nonsyndromic hearing loss 9 | Pathogenic
(Nov 1, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr14:31348040
- GRCh38:
- Chr14:30878834
| COCH, LOC100506071 | G88E, G153E | Autosomal dominant nonsyndromic hearing loss 9 | Pathogenic
(Nov 1, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr14:31346892
- GRCh38:
- Chr14:30877686
| COCH, LOC100506071 | V66G, V131G | Autosomal dominant nonsyndromic hearing loss 9 | Pathogenic
(Nov 1, 1998) | no assertion criteria provided |