| - GRCh37:
- Chr7:24745872-24745873
- GRCh38:
- Chr7:24706253-24706254
| GSDME | P208fs, P372fs | Autosomal dominant nonsyndromic hearing loss 5 | Likely pathogenic
(Aug 15, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr7:24738695
- GRCh38:
- Chr7:24699076
| GSDME | L317I, L481I | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Feb 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24749980
- GRCh38:
- Chr7:24710361
| GSDME | G242D, G78D | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Nov 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24747868
- GRCh38:
- Chr7:24708249
| GSDME | L126fs, L290fs | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Oct 29, 2022) | criteria provided, single submitter |
| | GSDME | R261*, R97* | Autosomal dominant nonsyndromic hearing loss 5, not specified | Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24784270-24784271
- GRCh38:
- Chr7:24744651-24744652
| GSDME | S106fs | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24789191
- GRCh38:
- Chr7:24749572
| GSDME | P68L | Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5 | Conflicting interpretations of pathogenicity
(Mar 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24745884
- GRCh38:
- Chr7:24706265
| GSDME | Q368E, Q204E | Autosomal dominant nonsyndromic hearing loss 5 | Pathogenic
(Oct 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr7:24758645
- GRCh38:
- Chr7:24719026
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24784403
- GRCh38:
- Chr7:24744784
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24747910
- GRCh38:
- Chr7:24708291
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5, not provided | Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24784374
- GRCh38:
- Chr7:24744755
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Likely pathogenic
(May 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24789319
- GRCh38:
- Chr7:24749700
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Conflicting interpretations of pathogenicity
(Mar 9, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24756935
- GRCh38:
- Chr7:24717316
| GSDME | P212L, P48L | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Sep 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24747830
- GRCh38:
- Chr7:24708211
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24784338
- GRCh38:
- Chr7:24744719
| GSDME | K83E | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jul 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24784310
- GRCh38:
- Chr7:24744691
| GSDME | L92R | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24784291
- GRCh38:
- Chr7:24744672
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24784229
- GRCh38:
- Chr7:24744610
| GSDME | R119K | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24747797
- GRCh38:
- Chr7:24708178
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Likely benign
(May 9, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24745970
- GRCh38:
- Chr7:24706351
| GSDME | S175W, S339W | Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24758812
- GRCh38:
- Chr7:24719193
| GSDME | L144I | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24757005
- GRCh38:
- Chr7:24717386
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738564
- GRCh38:
- Chr7:24698945
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738558
- GRCh38:
- Chr7:24698939
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5, not provided | Benign
(Jun 29, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24738406
- GRCh38:
- Chr7:24698787
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738346
- GRCh38:
- Chr7:24698727
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24745798
- GRCh38:
- Chr7:24706179
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Conflicting interpretations of pathogenicity
(Apr 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24758786
- GRCh38:
- Chr7:24719167
| GSDME | N152K | Sensorineural hearing loss disorder, Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Apr 20, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24742428
- GRCh38:
- Chr7:24702809
| GSDME | L403P, L239P | Autosomal dominant nonsyndromic hearing loss 5, not provided, not specified
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24797541
- GRCh38:
- Chr7:24757922
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24797522
- GRCh38:
- Chr7:24757903
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24784360
- GRCh38:
- Chr7:24744741
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24784260
- GRCh38:
- Chr7:24744641
| GSDME | V109I | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Conflicting interpretations of pathogenicity
(Mar 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24784227
- GRCh38:
- Chr7:24744608
| GSDME | K120Q | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24758762
- GRCh38:
- Chr7:24719143
| GSDME | Q160H | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Conflicting interpretations of pathogenicity
(Jan 19, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24758714
- GRCh38:
- Chr7:24719095
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Benign/Likely benign
(Aug 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24758698
- GRCh38:
- Chr7:24719079
| GSDME | G182S, G18S | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24758653
- GRCh38:
- Chr7:24719034
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Benign/Likely benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24756986
- GRCh38:
- Chr7:24717367
| GSDME | A195V, A31V | Autosomal dominant nonsyndromic hearing loss 5 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24756959
- GRCh38:
- Chr7:24717340
| GSDME | D204V, D40V | not provided, Autosomal dominant nonsyndromic hearing loss 5, Hearing impairment
| Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24756958
- GRCh38:
- Chr7:24717339
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Benign
(Dec 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24756885
- GRCh38:
- Chr7:24717266
| GSDME | D229N, D65N | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24749939
- GRCh38:
- Chr7:24710320
| GSDME | D256N, D92N | Autosomal dominant nonsyndromic hearing loss 5, not provided | Uncertain significance
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24747872
- GRCh38:
- Chr7:24708253
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24745865
- GRCh38:
- Chr7:24706246
| GSDME | P374L, P210L | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24745830
- GRCh38:
- Chr7:24706211
| GSDME | A386T, A222T | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24745807
- GRCh38:
- Chr7:24706188
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Conflicting interpretations of pathogenicity
(Jul 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24742383
- GRCh38:
- Chr7:24702764
| GSDME | H418R, H254R | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738788
- GRCh38:
- Chr7:24699169
| GSDME | R450C, R286C | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24738787
- GRCh38:
- Chr7:24699168
| GSDME | R450H, R286H | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24738621
- GRCh38:
- Chr7:24699002
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Likely benign
(Aug 19, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24738615
- GRCh38:
- Chr7:24698996
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Benign
(Jun 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24738573
- GRCh38:
- Chr7:24698954
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738385
- GRCh38:
- Chr7:24698766
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738372
- GRCh38:
- Chr7:24698753
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Benign
(Dec 17, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24738324
- GRCh38:
- Chr7:24698705
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738319
- GRCh38:
- Chr7:24698700
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738312
- GRCh38:
- Chr7:24698693
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738299
- GRCh38:
- Chr7:24698680
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738216
- GRCh38:
- Chr7:24698597
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738197
- GRCh38:
- Chr7:24698578
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738164
- GRCh38:
- Chr7:24698545
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738118
- GRCh38:
- Chr7:24698499
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738108
- GRCh38:
- Chr7:24698489
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24738062
- GRCh38:
- Chr7:24698443
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:24747802
- GRCh38:
- Chr7:24708183
| GSDME | D312N, D148N | not provided, Autosomal dominant nonsyndromic hearing loss 5, not specified
| Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24742439-24742440
- GRCh38:
- Chr7:24702820-24702821
| GSDME | | not provided, Autosomal dominant nonsyndromic hearing loss 5 | Conflicting interpretations of pathogenicity
(Sep 15, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24746008-24746010
- GRCh38:
- Chr7:24706389-24706391
| GSDME | | Rare genetic deafness, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Pathogenic
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24756912
- GRCh38:
- Chr7:24717293
| GSDME | G220S, G56S | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24745864
- GRCh38:
- Chr7:24706245
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24758849
- GRCh38:
- Chr7:24719230
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign/Likely benign
(Mar 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24738857-24738859
- GRCh38:
- Chr7:24699238-24699240
| GSDME | D426del, D262del | Nonsyndromic Hearing Loss, Mixed, not specified, not provided,
Autosomal dominant nonsyndromic hearing loss 5 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:24747879
- GRCh38:
- Chr7:24708260
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24756951
- GRCh38:
- Chr7:24717332
| GSDME | V207M, V43M | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24757008
- GRCh38:
- Chr7:24717389
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24758753
- GRCh38:
- Chr7:24719134
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24758795
- GRCh38:
- Chr7:24719176
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24758818
- GRCh38:
- Chr7:24719199
| GSDME | P142T | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24758852
- GRCh38:
- Chr7:24719233
| GSDME | | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24738802
- GRCh38:
- Chr7:24699183
| GSDME | F445Y, F281Y | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24742436
- GRCh38:
- Chr7:24702817
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24742437
- GRCh38:
- Chr7:24702818
| GSDME | A400V, A236V | not provided, not specified, Autosomal dominant nonsyndromic hearing loss 5
| Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24745794
- GRCh38:
- Chr7:24706175
| GSDME | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 5
| Benign/Likely benign
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:24745799
- GRCh38:
- Chr7:24706180
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Pathogenic
(Nov 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr7:24746001
- GRCh38:
- Chr7:24706382
| GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Pathogenic
(Jan 1, 2004) | no assertion criteria provided |
| | GSDME | | Autosomal dominant nonsyndromic hearing loss 5 | Pathogenic
(Oct 1, 1998) | no assertion criteria provided |