S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 28

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:68715310
GRCh38:
Chr5:69419483
MARVELD2not specifiedGO-ESP:0.46748(T)
GMAF:0.48300(T)
Benign
(May 7, 2012)
criteria provided, single submitter
2.
GRCh37:
Chr5:68715368
GRCh38:
Chr5:69419541
MARVELD2not specifiedLikely benign
(Apr 30, 2012)
criteria provided, single submitter
3.
GRCh37:
Chr5:68715423
GRCh38:
Chr5:69419596
MARVELD2not specifiedGMAF:0.00140(G)Likely benign
(Aug 19, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr5:68715500
GRCh38:
Chr5:69419673
MARVELD2not specifiedGMAF:0.00020(A)Uncertain significance
(Oct 7, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr5:68715518
GRCh38:
Chr5:69419691
MARVELD2not specifiedLikely benign
(Jul 20, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr5:68715543
GRCh38:
Chr5:69419716
MARVELD2not specifiedLikely benign
(Mar 1, 2013)
criteria provided, single submitter
7.
GRCh37:
Chr5:68715576
GRCh38:
Chr5:69419749
MARVELD2not specifiedGMAF:0.00420(A)Benign
(Apr 30, 2012)
criteria provided, single submitter
8.
GRCh37:
Chr5:68715706
GRCh38:
Chr5:69419879
MARVELD2not specifiedLikely benign
(Aug 10, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr5:68715712
GRCh38:
Chr5:69419885
MARVELD2not specifiedGMAF:0.00160(G)Benign
(Dec 19, 2014)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr5:68715797
GRCh38:
Chr5:69419970
MARVELD2not specifiedGMAF:0.00140(G)Uncertain significance
(Apr 4, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr5:68715804
GRCh38:
Chr5:69419977
MARVELD2not specifiedGMAF:0.00060(A)Uncertain significance
(Nov 8, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr5:68715827
GRCh38:
Chr5:69420000
MARVELD2not specifiedGO-ESP:0.00138(T)
GMAF:0.00040(T)
Likely benign
(Apr 30, 2012)
criteria provided, single submitter
13.
GRCh37:
Chr5:68715983
GRCh38:
Chr5:69420156
MARVELD2not specifiedLikely benign
(Feb 9, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr5:68716080
GRCh38:
Chr5:69420253
MARVELD2not specifiedUncertain significance
(Apr 7, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr5:68716110
GRCh38:
Chr5:69420283
MARVELD2not specified, not providedGMAF:0.00020(A)Conflicting interpretations of pathogenicity
(Mar 30, 2015)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr5:68716112
GRCh38:
Chr5:69420285
MARVELD2not specifiedLikely benign
(Apr 30, 2012)
criteria provided, single submitter
17.
GRCh37:
Chr5:68716218
GRCh38:
Chr5:69420391
MARVELD2not specifiedUncertain significance
(Jun 4, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr5:68716271
GRCh38:
Chr5:69420444
MARVELD2not specifiedLikely benign
(Jun 28, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr5:68716307
GRCh38:
Chr5:69420480
MARVELD2not specifiedLikely benign
(Aug 28, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr5:68720419
GRCh38:
Chr5:69424592
MARVELD2not specifiedGO-ESP:0.34236(G)
GMAF:0.28180(G)
Benign
(May 7, 2012)
criteria provided, single submitter
21.
GRCh37:
Chr5:68728375
GRCh38:
Chr5:69432548
MARVELD2not specifiedUncertain significance
(Jun 12, 2013)
criteria provided, single submitter
22.
GRCh37:
Chr5:68728503
GRCh38:
Chr5:69432676
MARVELD2Non-syndromic genetic deafnessPathogenic
(Jan 28, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr5:68728824
GRCh38:
Chr5:69432997
MARVELD2not specifiedGO-ESP:0.00092(T)
GMAF:0.00160(T)
Likely benign
(Sep 3, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr5:68728855
GRCh38:
Chr5:69433028
MARVELD2not specified, not providedUncertain significance
(Nov 17, 2015)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr5:68728878
GRCh38:
Chr5:69433051
MARVELD2not specifiedUncertain significance
(Jul 9, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr5:68728896
GRCh38:
Chr5:69433069
MARVELD2not specifiedLikely benign
(Jan 14, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr5:68728915
GRCh38:
Chr5:69433088
MARVELD2Non-syndromic genetic deafness, Deafness, neurosensory, autosomal recessive 49Pathogenic
(Jun 19, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr5:68737482
GRCh38:
Chr5:69441655
MARVELD2not specifiedGMAF:0.00020(T)Uncertain significance
(Jan 26, 2016)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination