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Links from MedGen

Items: 60

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:68736613
GRCh38:
Chr5:69440786
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Apr 4, 2020)
criteria provided, single submitter
2.
GRCh37:
Chr5:68716170
GRCh38:
Chr5:69420343
MARVELD2L320Vnot provided, Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr5:68715816-68715817
GRCh38:
Chr5:69419989-69419990
MARVELD2L203fsAutosomal recessive nonsyndromic hearing loss 49Pathogenic
(Aug 1, 2020)
criteria provided, single submitter
4.
GRCh37:
Chr5:68728375-68728378
GRCh38:
Chr5:69432548-69432551
MARVELD2R391fs, R403fsAutosomal recessive nonsyndromic hearing loss 49Likely pathogenic
(Jul 1, 2021)
no assertion criteria provided
5.
GRCh37:
Chr5:68716333-68716334
GRCh38:
Chr5:69420506-69420507
MARVELD2R375*Autosomal recessive nonsyndromic hearing loss 49Likely pathogenic
(Jul 1, 2021)
no assertion criteria provided
6.
GRCh37:
Chr5:68715485
GRCh38:
Chr5:69419658
MARVELD2R91SAutosomal recessive nonsyndromic hearing loss 49, not providedConflicting interpretations of pathogenicity
(Sep 12, 2022)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr5:68737578
GRCh38:
Chr5:69441751
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr5:68737489
GRCh38:
Chr5:69441662
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr5:68737346
GRCh38:
Chr5:69441519
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr5:68728479
GRCh38:
Chr5:69432652
MARVELD2not provided, Autosomal recessive nonsyndromic hearing loss 49Conflicting interpretations of pathogenicity
(Jun 3, 2020)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr5:68728424
GRCh38:
Chr5:69432597
MARVELD2K406I, K418IAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr5:68716162
GRCh38:
Chr5:69420335
MARVELD2R317Qnot provided, Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Dec 9, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr5:68716089
GRCh38:
Chr5:69420262
MARVELD2E293QAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr5:68716046
GRCh38:
Chr5:69420219
MARVELD2not provided, Autosomal recessive nonsyndromic hearing loss 49Conflicting interpretations of pathogenicity
(Jun 22, 2021)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr5:68737857
GRCh38:
Chr5:69442030
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr5:68737827
GRCh38:
Chr5:69442000
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr5:68737747
GRCh38:
Chr5:69441920
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr5:68737638
GRCh38:
Chr5:69441811
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr5:68715726
GRCh38:
Chr5:69419899
MARVELD2Y172HAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr5:68728504
GRCh38:
Chr5:69432677
MARVELD2not provided, Autosomal recessive nonsyndromic hearing loss 49, Hearing impairment
Pathogenic/Likely pathogenic
(Feb 23, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr5:68720426
GRCh38:
Chr5:69424599
MARVELD2not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
Conflicting interpretations of pathogenicity
(Jul 4, 2021)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr5:68715327
GRCh38:
Chr5:69419500
MARVELD2R39Wnot specified, Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr5:68737366
GRCh38:
Chr5:69441539
MARVELD2T521K, T509KAutosomal recessive nonsyndromic hearing loss 49, not providedUncertain significance
(Jan 6, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr5:68737464
GRCh38:
Chr5:69441637
MARVELD2V554I, V542IAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Feb 11, 2016)
no assertion criteria provided
25.
GRCh37:
Chr5:68737691
GRCh38:
Chr5:69441864
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr5:68737665
GRCh38:
Chr5:69441838
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr5:68737652
GRCh38:
Chr5:69441825
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr5:68737602
GRCh38:
Chr5:69441775
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr5:68728908
GRCh38:
Chr5:69433081
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr5:68728860
GRCh38:
Chr5:69433033
MARVELD2not provided, Autosomal recessive nonsyndromic hearing loss 49Conflicting interpretations of pathogenicity
(Jun 3, 2022)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr5:68728491
GRCh38:
Chr5:69432664
MARVELD2not provided, Autosomal recessive nonsyndromic hearing loss 49Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr5:68728419
GRCh38:
Chr5:69432592
MARVELD2not provided, not specified, Autosomal recessive nonsyndromic hearing loss 49
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr5:68728387
GRCh38:
Chr5:69432560
MARVELD2D406N, D394NAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr5:68716312
GRCh38:
Chr5:69420485
MARVELD2R367MAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr5:68716261
GRCh38:
Chr5:69420434
MARVELD2V350AAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr5:68716245
GRCh38:
Chr5:69420418
MARVELD2M345VInborn genetic diseases, not provided, not specified,
Autosomal recessive nonsyndromic hearing loss 49
Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr5:68715972
GRCh38:
Chr5:69420145
MARVELD2P254AAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr5:68715955
GRCh38:
Chr5:69420128
MARVELD2Y248CAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr5:68715940
GRCh38:
Chr5:69420113
MARVELD2Y243Cnot provided, Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Aug 25, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr5:68715874
GRCh38:
Chr5:69420047
MARVELD2W221SAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr5:68715703
GRCh38:
Chr5:69419876
MARVELD2R164PAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr5:68715666
GRCh38:
Chr5:69419839
MARVELD2A152Tnot provided, Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr5:68715665
GRCh38:
Chr5:69419838
MARVELD2not provided, Autosomal recessive nonsyndromic hearing loss 49Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr5:68715269
GRCh38:
Chr5:69419442
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr5:68715250
GRCh38:
Chr5:69419423
MARVELD2R13HAutosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr5:68716020
GRCh38:
Chr5:69420193
MARVELD2I270Lnot provided, Autosomal recessive nonsyndromic hearing loss 49Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr5:68715388
GRCh38:
Chr5:69419561
MARVELD2P59Lnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
Conflicting interpretations of pathogenicity
(Jul 20, 2022)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr5:68728503
GRCh38:
Chr5:69432676
MARVELD2Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 49Pathogenic
(Feb 5, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr5:68715518
GRCh38:
Chr5:69419691
MARVELD2Autosomal recessive nonsyndromic hearing loss 49, not provided, not specified
Conflicting interpretations of pathogenicity
(Jul 11, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr5:68715242
GRCh38:
Chr5:69419415
MARVELD2not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr5:68716110
GRCh38:
Chr5:69420283
MARVELD2L300Mnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
Conflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr5:68715712
GRCh38:
Chr5:69419885
MARVELD2Q167Rnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
Conflicting interpretations of pathogenicity
(Oct 21, 2022)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr5:68715576
GRCh38:
Chr5:69419749
MARVELD2A122Tnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
Conflicting interpretations of pathogenicity
(Aug 19, 2022)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr5:68728878
GRCh38:
Chr5:69433051
MARVELD2D487E, D475Enot specified, Autosomal recessive nonsyndromic hearing loss 49Uncertain significance
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr5:68715310
GRCh38:
Chr5:69419483
MARVELD2T33Inot specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr5:68728824
GRCh38:
Chr5:69432997
MARVELD2not provided, not specified, Autosomal recessive nonsyndromic hearing loss 49
Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr5:68720419
GRCh38:
Chr5:69424592
MARVELD2not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr5:68728915
GRCh38:
Chr5:69433088
MARVELD2R500*, 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
59.
GRCh37:
Chr5:68728503-68728506
GRCh38:
Chr5:69432676-69432679
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Pathogenic
(Dec 1, 2006)
no assertion criteria provided
60.
GRCh37:
Chr5:68728353
GRCh38:
Chr5:69432526
MARVELD2Autosomal recessive nonsyndromic hearing loss 49Likely pathogeniccriteria provided, single submitter
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