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Items: 1 to 100 of 576

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:41285030
GRCh38:
Chr1:40819358
KCNQ4Nonsyndromic hearing loss and deafness, not specifiedLikely benign
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
2.
GRCh37:
Chr1:41285135
GRCh38:
Chr1:40819463
KCNQ4Nonsyndromic hearing loss and deafness, not specifiedLikely pathogenic
(Sep 10, 2018)
reviewed by expert panel
FDA Recognized Database
3.
GRCh37:
Chr1:41285565
GRCh38:
Chr1:40819893
KCNQ4DFNA 2 Nonsyndromic Hearing Loss, Nonsyndromic hearing loss and deafnessPathogenic
(Sep 11, 2018)
reviewed by expert panel
FDA Recognized Database
4.
GRCh37:
Chr1:215799170
GRCh38:
Chr1:215625828
USH2Anot specified, Usher syndromeBenign
(Sep 17, 2018)
reviewed by expert panel
FDA Recognized Database
5.
GRCh37:
Chr1:215802181
GRCh38:
Chr1:215628839
USH2Anot specified, not provided, Usher syndrome
Likely benign
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
6.
GRCh37:
Chr1:215807798
GRCh38:
Chr1:215634456
USH2Anot specified, Usher syndromeBenign
(Sep 14, 2018)
reviewed by expert panel
FDA Recognized Database
7.
GRCh37:
Chr1:215822033
GRCh38:
Chr1:215648691
USH2AUsher syndrome, type 2A, Retinitis pigmentosa 39, not specified,
not provided, Usher syndrome
Uncertain significance
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
8.
GRCh37:
Chr1:215932085
GRCh38:
Chr1:215758743
USH2AUsher syndrome, type 2A, Usher syndromePathogenic
(Sep 17, 2018)
reviewed by expert panel
FDA Recognized Database
9.
GRCh37:
Chr1:216040521
GRCh38:
Chr1:215867179
USH2AUsher syndrome, type 2A, Retinitis pigmentosa 39, not provided,
Usher syndrome
Pathogenic
(Sep 24, 2018)
reviewed by expert panel
FDA Recognized Database
10.
GRCh37:
Chr1:216051224
GRCh38:
Chr1:215877882
USH2AUsher syndrome, type 2A, Retinitis pigmentosa, Retinitis pigmentosa 39,
not provided, Usher syndrome
Pathogenic
(Sep 17, 2018)
reviewed by expert panel
FDA Recognized Database
11.
GRCh37:
Chr1:216061814
GRCh38:
Chr1:215888472
USH2AUsher syndrome, type 2A, Retinitis pigmentosa 39, not specified,
Usher syndrome
Uncertain significance
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
12.
GRCh37:
Chr1:216246634
GRCh38:
Chr1:216073292
USH2A, LOC102723833Usher syndrome, type 2A, Retinitis pigmentosa 39, Usher syndrome
Pathogenic
(Sep 14, 2018)
reviewed by expert panel
FDA Recognized Database
13.
GRCh37:
Chr1:216258168
GRCh38:
Chr1:216084826
USH2A, LOC102723833not specified, not provided, Usher syndrome
Uncertain significance
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
14.
GRCh37:
Chr1:216348711
GRCh38:
Chr1:216175369
USH2AUsher syndrome, type 2A, Retinitis pigmentosa, not provided,
Usher syndrome
Pathogenic
(Sep 10, 2018)
reviewed by expert panel
FDA Recognized Database
15.
GRCh37:
Chr1:216363622-216363623
GRCh38:
Chr1:216190280-216190281
USH2AUsher syndrome, type 2A, Retinitis pigmentosa 39, USH2A-Related Disorders,
Usher syndrome
Pathogenic
(Sep 25, 2018)
reviewed by expert panel
FDA Recognized Database
16.
GRCh37:
Chr1:216498754
GRCh38:
Chr1:216325412
USH2AUsher syndrome, type 2A, Retinitis pigmentosa 39, not provided,
Usher syndrome
Pathogenic
(Sep 14, 2018)
reviewed by expert panel
FDA Recognized Database
17.
GRCh37:
Chr1:215844314-215848958
GRCh38:
Chr1:215670972-215675616
USH2AUsher syndrome, type 2A, Usher syndromeLikely pathogenic
(Sep 19, 2018)
reviewed by expert panel
FDA Recognized Database
18.
GRCh37:
Chr2:39213258
GRCh38:
Chr2:38986117
SOS1not specified, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
19.
GRCh37:
Chr2:39213309
GRCh38:
Chr2:38986168
SOS1RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
20.
GRCh37:
Chr2:39213415
GRCh38:
Chr2:38986274
SOS1RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
21.
GRCh37:
Chr2:39216404
GRCh38:
Chr2:38989263
SOS1Noonan syndrome, not specified, not provided,
Rasopathy, Gingival fibromatosis
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
22.
GRCh37:
Chr2:39222280
GRCh38:
Chr2:38995139
SOS1not specified, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
23.
GRCh37:
Chr2:39224072
GRCh38:
Chr2:38996931
SOS1not specified, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
24.
GRCh37:
Chr2:39224112
GRCh38:
Chr2:38996971
SOS1Noonan syndrome, not specified, Rasopathy
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
25.
GRCh37:
Chr2:39224147
GRCh38:
Chr2:38997006
SOS1not specified, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
26.
GRCh37:
Chr2:39224156
GRCh38:
Chr2:38997015
SOS1not specified, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
27.
GRCh37:
Chr2:39233584
GRCh38:
Chr2:39006443
SOS1not specified, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
28.
GRCh37:
Chr2:39234309
GRCh38:
Chr2:39007168
SOS1Noonan syndrome, not provided, Rasopathy
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
29.
GRCh37:
Chr2:39239286
GRCh38:
Chr2:39012145
SOS1not specified, not provided, Rasopathy
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
30.
GRCh37:
Chr2:39239419
GRCh38:
Chr2:39012278
SOS1not specified, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
31.
GRCh37:
Chr2:39240595
GRCh38:
Chr2:39013454
SOS1not specified, not provided, Rasopathy
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
32.
GRCh37:
Chr2:39240612
GRCh38:
Chr2:39013471
SOS1not specified, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
33.
GRCh37:
Chr2:39240646
GRCh38:
Chr2:39013505
SOS1Noonan syndrome, not specified, not provided,
Rasopathy, Gingival fibromatosis
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
34.
GRCh37:
Chr2:39241061
GRCh38:
Chr2:39013920
SOS1RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
35.
GRCh37:
Chr2:39241107
GRCh38:
Chr2:39013966
SOS1not specified, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
36.
GRCh37:
Chr2:39249797
GRCh38:
Chr2:39022656
SOS1not specified, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
37.
GRCh37:
Chr2:39249799
GRCh38:
Chr2:39022658
SOS1not specified, not provided, Rasopathy
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
38.
GRCh37:
Chr2:39249864
GRCh38:
Chr2:39022723
SOS1not specified, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
39.
GRCh37:
Chr2:39249915
GRCh38:
Chr2:39022774
SOS1Gingival fibromatosis 1, Noonan syndrome 4, Noonan syndrome,
not provided, Rasopathy
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
40.
GRCh37:
Chr2:39249922
GRCh38:
Chr2:39022781
SOS1not specified, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
41.
GRCh37:
Chr2:39249927
GRCh38:
Chr2:39022786
SOS1Noonan syndrome, not provided, Rasopathy,
Inborn genetic diseases
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
42.
GRCh37:
Chr2:39250339
GRCh38:
Chr2:39023198
SOS1Noonan syndrome, not specified, not provided,
Rasopathy, Gingival fibromatosis
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
43.
GRCh37:
Chr2:39262348
GRCh38:
Chr2:39035207
SOS1Noonan syndrome, not specified, not provided,
Rasopathy, Gingival fibromatosis
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
44.
GRCh37:
Chr2:39278343
GRCh38:
Chr2:39051202
SOS1Noonan syndrome 4, Noonan syndrome, not provided,
Rasopathy, Inborn genetic diseases
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
45.
GRCh37:
Chr2:39278400
GRCh38:
Chr2:39051259
SOS1not specified, not provided, Rasopathy
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
46.
GRCh37:
Chr2:39281777
GRCh38:
Chr2:39054636
SOS1not specified, not provided, Rasopathy
Likely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
47.
GRCh37:
Chr2:39281905
GRCh38:
Chr2:39054764
SOS1Noonan syndrome, not specified, Rasopathy,
Gingival fibromatosis
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
48.
GRCh37:
Chr2:39281922
GRCh38:
Chr2:39054781
SOS1Noonan syndrome, not specified, not provided,
Rasopathy, Gingival fibromatosis
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
49.
GRCh37:
Chr2:39283845
GRCh38:
Chr2:39056704
SOS1Noonan syndrome, not provided, Rasopathy,
Inborn genetic diseases
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
50.
GRCh37:
Chr2:39284003
GRCh38:
Chr2:39056862
SOS1not specified, RasopathyLikely benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
51.
GRCh37:
Chr2:39285837
GRCh38:
Chr2:39058696
SOS1Noonan syndrome, not provided, Rasopathy
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
52.
GRCh37:
Chr2:39285865
GRCh38:
Chr2:39058724
SOS1RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
53.
GRCh37:
Chr2:39285879
GRCh38:
Chr2:39058738
SOS1RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
54.
GRCh37:
Chr2:39285934
GRCh38:
Chr2:39058793
SOS1RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
55.
GRCh37:
Chr2:39294787
GRCh38:
Chr2:39067646
SOS1Noonan syndrome, not specified, Rasopathy,
Gingival fibromatosis
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
56.
GRCh37:
Chr2:39294841
GRCh38:
Chr2:39067700
SOS1RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
57.
GRCh37:
Chr2:39294873
GRCh38:
Chr2:39067732
SOS1not specified, RasopathyBenign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
58.
GRCh37:
Chr2:39347491
GRCh38:
Chr2:39120350
SOS1not specified, RasopathyBenign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
59.
GRCh37:
Chr3:12626019
GRCh38:
Chr3:12584520
RAF1not specified, Rasopathy, Cardiovascular phenotype
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
60.
GRCh37:
Chr3:12626046
GRCh38:
Chr3:12584547
RAF1Noonan syndrome with multiple lentigines, Noonan syndrome, not specified,
Rasopathy, Cardiovascular phenotype
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
61.
GRCh37:
Chr3:12626123
GRCh38:
Chr3:12584624
RAF1LEOPARD syndrome 2, Noonan syndrome 5, Noonan syndrome with multiple lentigines,
Noonan syndrome, not provided, Rasopathy
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
62.
GRCh37:
Chr3:12626130
GRCh38:
Chr3:12584631
RAF1Noonan syndrome with multiple lentigines, Noonan syndrome, not specified,
Rasopathy, Cardiovascular phenotype
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
63.
GRCh37:
Chr3:12626394
GRCh38:
Chr3:12584895
RAF1Noonan syndrome with multiple lentigines, Noonan syndrome, not specified,
Rasopathy, Cardiovascular phenotype
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
64.
GRCh37:
Chr3:12626617
GRCh38:
Chr3:12585118
RAF1not provided, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
65.
GRCh37:
Chr3:12626660
GRCh38:
Chr3:12585161
RAF1RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
66.
GRCh37:
Chr3:12626660
GRCh38:
Chr3:12585161
RAF1not provided, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
67.
GRCh37:
Chr3:12626702
GRCh38:
Chr3:12585203
RAF1RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
68.
GRCh37:
Chr3:12627244
GRCh38:
Chr3:12585745
RAF1Noonan syndrome with multiple lentigines, Noonan syndrome, not provided,
Rasopathy, Cardiovascular phenotype
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
69.
GRCh37:
Chr3:12633207
GRCh38:
Chr3:12591708
RAF1not provided, RasopathyUncertain significance
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
70.
GRCh37:
Chr3:12633259
GRCh38:
Chr3:12591760
RAF1not specified, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
71.
GRCh37:
Chr3:12641169-12641181
GRCh38:
Chr3:12599670-12599682
RAF1not specified, not provided, Rasopathy
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
72.
GRCh37:
Chr3:12641216
GRCh38:
Chr3:12599717
RAF1Noonan syndrome, not provided, Rasopathy
Likely pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
73.
GRCh37:
Chr3:12641706
GRCh38:
Chr3:12600207
RAF1not specified, not provided, Rasopathy,
Cardiovascular phenotype
Uncertain significance
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
74.
GRCh37:
Chr3:12641718
GRCh38:
Chr3:12600219
RAF1Noonan syndrome with multiple lentigines, Noonan syndrome, not specified,
Rasopathy
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
75.
GRCh37:
Chr3:12641732
GRCh38:
Chr3:12600233
RAF1Noonan syndrome with multiple lentigines, Noonan syndrome, not specified,
not provided, Rasopathy
Likely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
76.
GRCh37:
Chr3:12641734
GRCh38:
Chr3:12600235
RAF1not provided, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
77.
GRCh37:
Chr3:12645681
GRCh38:
Chr3:12604182
RAF1Noonan syndrome, not provided, Rasopathy
Likely pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
78.
GRCh37:
Chr3:12645688
GRCh38:
Chr3:12604189
RAF1Noonan syndrome 5, Primary familial hypertrophic cardiomyopathy, Noonan syndrome,
not provided, Rasopathy, Inborn genetic diseases,
Cardiovascular phenotype
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
79.
GRCh37:
Chr3:12645694
GRCh38:
Chr3:12604195
RAF1Noonan syndrome, not provided, Rasopathy
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
80.
GRCh37:
Chr3:12645699
GRCh38:
Chr3:12604200
RAF1LEOPARD syndrome 2, Malignant melanoma of skin, Noonan syndrome 5,
Noonan syndrome with multiple lentigines, Lung adenocarcinoma, Noonan syndrome,
not provided, Rasopathy, Cardiomyopathy, dilated, 1NN,
Neoplasm of the large intestine, Inborn genetic diseasesColorectal Neoplasms,
Adenocarcinoma of stomach, ...see more
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
81.
GRCh37:
Chr3:12645700
GRCh38:
Chr3:12604201
RAF1Primary familial hypertrophic cardiomyopathy, Noonan syndrome, not provided,
Rasopathy, Cutaneous melanoma
Likely pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
82.
GRCh37:
Chr3:12645701
GRCh38:
Chr3:12604202
RAF1Noonan syndrome, not provided, Rasopathy
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
83.
GRCh37:
Chr3:12650261
GRCh38:
Chr3:12608762
RAF1not specified, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
84.
GRCh37:
Chr3:12653557
GRCh38:
Chr3:12612058
RAF1not specified, not provided, Rasopathy,
Cardiovascular phenotype
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
85.
GRCh37:
Chr3:12660096
GRCh38:
Chr3:12618597
RAF1Noonan syndrome with multiple lentigines, Noonan syndrome, Rasopathy
Likely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
86.
GRCh37:
Chr3:12660097
GRCh38:
Chr3:12618598
RAF1RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
87.
GRCh37:
Chr3:12660102
GRCh38:
Chr3:12618603
RAF1Noonan syndrome 1, Noonan syndrome with multiple lentigines, Noonan syndrome,
not specified, not provided, Rasopathy,
Cardiovascular phenotype
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
88.
GRCh37:
Chr3:12660155
GRCh38:
Chr3:12618656
RAF1not specified, RasopathyLikely benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
89.
GRCh37:
Chr6:76538307
GRCh38:
Chr6:75828590
MYO6Nonsyndromic hearing loss and deafness, not specified, not provided
Likely pathogenic
(Sep 11, 2018)
reviewed by expert panel
FDA Recognized Database
90.
GRCh37:
Chr6:76542642
GRCh38:
Chr6:75832925
MYO6Nonsyndromic hearing loss and deafness, not specified, Nonsyndromic Hearing Loss, Dominant,
Nonsyndromic Hearing Loss, Recessive
Benign
(Sep 20, 2018)
reviewed by expert panel
FDA Recognized Database
91.
GRCh37:
Chr6:76599951
GRCh38:
Chr6:75890234
MYO6Nonsyndromic hearing loss and deafness, not specified, not provided
Likely benign
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
92.
GRCh37:
Chr7:107312627
GRCh38:
Chr7:107672182
SLC26A4Enlarged vestibular aqueduct, Pendred syndromeLikely pathogenic
(Sep 26, 2018)
reviewed by expert panel
FDA Recognized Database
93.
GRCh37:
Chr7:107312643
GRCh38:
Chr7:107672198
SLC26A4Pendred syndrome, not providedPathogenic
(Sep 10, 2018)
reviewed by expert panel
FDA Recognized Database
94.
GRCh37:
Chr7:107312690
GRCh38:
Chr7:107672245
SLC26A4Enlarged vestibular aqueduct, Pendred syndrome, not provided,
SLC26A4-Related Disorders
Pathogenic
(Sep 19, 2018)
reviewed by expert panel
FDA Recognized Database
95.
GRCh37:
Chr7:107314758
GRCh38:
Chr7:107674313
SLC26A4Pendred syndrome, not specifiedBenign
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
96.
GRCh37:
Chr7:107315495
GRCh38:
Chr7:107675050
SLC26A4Enlarged vestibular aqueduct, Pendred syndrome, not specified
Likely pathogenic
(Sep 10, 2018)
reviewed by expert panel
FDA Recognized Database
97.
GRCh37:
Chr7:107323898
GRCh38:
Chr7:107683453
SLC26A4Enlarged vestibular aqueduct, Pendred syndrome, not provided
Pathogenic
(Sep 20, 2018)
reviewed by expert panel
FDA Recognized Database
98.
GRCh37:
Chr7:107330648
GRCh38:
Chr7:107690203
SLC26A4Enlarged vestibular aqueduct, Pendred syndrome, not provided
Pathogenic
(Sep 17, 2018)
reviewed by expert panel
FDA Recognized Database
99.
GRCh37:
Chr7:107335087
GRCh38:
Chr7:107694642
SLC26A4Pendred syndrome, not specified, not provided
Benign
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
100.
GRCh37:
Chr7:107353039
GRCh38:
Chr7:107712594
SLC26A4Pendred syndrome, not specified, Nonsyndromic Hearing Loss, Recessive
Uncertain significance
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
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