| - GRCh37:
- Chr5:68736613
- GRCh38:
- Chr5:69440786
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Apr 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68716170
- GRCh38:
- Chr5:69420343
| MARVELD2 | L320V | not provided, Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68715816-68715817
- GRCh38:
- Chr5:69419989-69419990
| MARVELD2 | L203fs | Autosomal recessive nonsyndromic hearing loss 49 | Pathogenic (Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68728375-68728378
- GRCh38:
- Chr5:69432548-69432551
| MARVELD2 | R391fs, R403fs | Autosomal recessive nonsyndromic hearing loss 49 | Likely pathogenic (Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr5:68716333-68716334
- GRCh38:
- Chr5:69420506-69420507
| MARVELD2 | R375* | Autosomal recessive nonsyndromic hearing loss 49 | Likely pathogenic (Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr5:68715485
- GRCh38:
- Chr5:69419658
| MARVELD2 | R91S | Autosomal recessive nonsyndromic hearing loss 49, not provided | Conflicting interpretations of pathogenicity (Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68737578
- GRCh38:
- Chr5:69441751
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68737489
- GRCh38:
- Chr5:69441662
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68737346
- GRCh38:
- Chr5:69441519
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68728479
- GRCh38:
- Chr5:69432652
| MARVELD2 | | not provided, Autosomal recessive nonsyndromic hearing loss 49 | Conflicting interpretations of pathogenicity (Jun 3, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68728424
- GRCh38:
- Chr5:69432597
| MARVELD2 | K406I, K418I | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68716162
- GRCh38:
- Chr5:69420335
| MARVELD2 | R317Q | not provided, Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68716089
- GRCh38:
- Chr5:69420262
| MARVELD2 | E293Q | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68716046
- GRCh38:
- Chr5:69420219
| MARVELD2 | | not provided, Autosomal recessive nonsyndromic hearing loss 49 | Conflicting interpretations of pathogenicity (Jun 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68737857
- GRCh38:
- Chr5:69442030
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68737827
- GRCh38:
- Chr5:69442000
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68737747
- GRCh38:
- Chr5:69441920
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68737638
- GRCh38:
- Chr5:69441811
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68715726
- GRCh38:
- Chr5:69419899
| MARVELD2 | Y172H | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68728504
- GRCh38:
- Chr5:69432677
| MARVELD2 | | not provided, Autosomal recessive nonsyndromic hearing loss 49, Hearing impairment
| Pathogenic/Likely pathogenic (Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68720426
- GRCh38:
- Chr5:69424599
| MARVELD2 | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
| Conflicting interpretations of pathogenicity (Jul 4, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68715327
- GRCh38:
- Chr5:69419500
| MARVELD2 | R39W | not specified, Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68737366
- GRCh38:
- Chr5:69441539
| MARVELD2 | T521K, T509K | Autosomal recessive nonsyndromic hearing loss 49, not provided | Uncertain significance (Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68737464
- GRCh38:
- Chr5:69441637
| MARVELD2 | V554I, V542I | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Feb 11, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr5:68737691
- GRCh38:
- Chr5:69441864
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68737665
- GRCh38:
- Chr5:69441838
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68737652
- GRCh38:
- Chr5:69441825
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68737602
- GRCh38:
- Chr5:69441775
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68728908
- GRCh38:
- Chr5:69433081
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68728860
- GRCh38:
- Chr5:69433033
| MARVELD2 | | not provided, Autosomal recessive nonsyndromic hearing loss 49 | Conflicting interpretations of pathogenicity (Jun 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68728491
- GRCh38:
- Chr5:69432664
| MARVELD2 | | not provided, Autosomal recessive nonsyndromic hearing loss 49 | Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68728419
- GRCh38:
- Chr5:69432592
| MARVELD2 | | not provided, not specified, Autosomal recessive nonsyndromic hearing loss 49
| Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68728387
- GRCh38:
- Chr5:69432560
| MARVELD2 | D406N, D394N | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68716312
- GRCh38:
- Chr5:69420485
| MARVELD2 | R367M | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68716261
- GRCh38:
- Chr5:69420434
| MARVELD2 | V350A | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68716245
- GRCh38:
- Chr5:69420418
| MARVELD2 | M345V | Inborn genetic diseases, not provided, not specified, Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68715972
- GRCh38:
- Chr5:69420145
| MARVELD2 | P254A | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68715955
- GRCh38:
- Chr5:69420128
| MARVELD2 | Y248C | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68715940
- GRCh38:
- Chr5:69420113
| MARVELD2 | Y243C | not provided, Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68715874
- GRCh38:
- Chr5:69420047
| MARVELD2 | W221S | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68715703
- GRCh38:
- Chr5:69419876
| MARVELD2 | R164P | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68715666
- GRCh38:
- Chr5:69419839
| MARVELD2 | A152T | not provided, Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68715665
- GRCh38:
- Chr5:69419838
| MARVELD2 | | not provided, Autosomal recessive nonsyndromic hearing loss 49 | Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68715269
- GRCh38:
- Chr5:69419442
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68715250
- GRCh38:
- Chr5:69419423
| MARVELD2 | R13H | Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:68716020
- GRCh38:
- Chr5:69420193
| MARVELD2 | I270L | not provided, Autosomal recessive nonsyndromic hearing loss 49 | Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68715388
- GRCh38:
- Chr5:69419561
| MARVELD2 | P59L | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
| Conflicting interpretations of pathogenicity (Jul 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68728503
- GRCh38:
- Chr5:69432676
| MARVELD2 | | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 49 | Pathogenic (Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68715518
- GRCh38:
- Chr5:69419691
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49, not provided, not specified
| Conflicting interpretations of pathogenicity (Jul 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68715242
- GRCh38:
- Chr5:69419415
| MARVELD2 | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
| Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68716110
- GRCh38:
- Chr5:69420283
| MARVELD2 | L300M | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
| Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68715712
- GRCh38:
- Chr5:69419885
| MARVELD2 | Q167R | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
| Conflicting interpretations of pathogenicity (Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68715576
- GRCh38:
- Chr5:69419749
| MARVELD2 | A122T | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
| Conflicting interpretations of pathogenicity (Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68728878
- GRCh38:
- Chr5:69433051
| MARVELD2 | D487E, D475E | not specified, Autosomal recessive nonsyndromic hearing loss 49 | Uncertain significance (Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68715310
- GRCh38:
- Chr5:69419483
| MARVELD2 | T33I | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68728824
- GRCh38:
- Chr5:69432997
| MARVELD2 | | not provided, not specified, Autosomal recessive nonsyndromic hearing loss 49
| Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:68720419
- GRCh38:
- Chr5:69424592
| MARVELD2 | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
| Benign (Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68728915
- GRCh38:
- Chr5:69433088
| MARVELD2 | R500*, R488* | Rare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 49, Ear malformation | Pathogenic/Likely pathogenic (Jan 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:68728503-68728506
- GRCh38:
- Chr5:69432676-69432679
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Pathogenic (Dec 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr5:68728353
- GRCh38:
- Chr5:69432526
| MARVELD2 | | Autosomal recessive nonsyndromic hearing loss 49 | Likely pathogenic | criteria provided, single submitter |