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Items: 13

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:36678800
GRCh38:
Chr22:36282754
MYH9May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome,
MYH9 related disorders
GO-ESP:0.00001(A)Pathogenic
(Apr 5, 2011)
no assertion criteria provided
2.
GRCh37:
Chr22:36680520
GRCh38:
Chr22:36284474
MYH9May-Hegglin anomaly, Fechtner syndrome, MYH9 related disorders
Pathogenic
(Apr 5, 2011)
no assertion criteria provided
3.
GRCh37:
Chr22:36684354
GRCh38:
Chr22:36288308
MYH9MYH9 related disorders, not specified, MYH9-related disorder,
Nonsyndromic Hearing Loss, Dominant
GO-ESP:0.15554(C)
GMAF:0.29410(C)
GO-ESP:0.25841(C)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr22:36688106
GRCh38:
Chr22:36292060
MYH9MYH9 related disordersPathogenic
(Apr 5, 2011)
no assertion criteria provided
5.
GRCh37:
Chr22:36688106
GRCh38:
Chr22:36292060
MYH9May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome,
Macrothrombocytopenia and progressive sensorineural deafness, MYH9 related disorders
Pathogenic
(Apr 5, 2011)
no assertion criteria provided
6.
GRCh37:
Chr22:36688106
GRCh38:
Chr22:36292060
MYH9Fechtner syndrome, MYH9 related disordersPathogenic
(Apr 5, 2011)
no assertion criteria provided
7.
GRCh37:
Chr22:36691114
GRCh38:
Chr22:36295068
MYH9MYH9 related disordersPathogenic
(Apr 5, 2011)
no assertion criteria provided
8.
GRCh37:
Chr22:36691115
GRCh38:
Chr22:36295069
MYH9Sebastian syndrome, MYH9 related disordersPathogenic
(Apr 5, 2011)
no assertion criteria provided
9.
GRCh37:
Chr22:36696249
GRCh38:
Chr22:36300203
MYH9MYH9 related disordersBenign
(Apr 5, 2011)
no assertion criteria provided
10.
GRCh37:
Chr22:36702021
GRCh38:
Chr22:36305975
MYH9Deafness, autosomal dominant nonsyndromic sensorineural 17, MYH9 related disordersPathogenic
(Apr 5, 2011)
no assertion criteria provided
11.
GRCh37:
Chr22:36702030
GRCh38:
Chr22:36305984
MYH9Epstein syndrome, Fechtner syndrome, MYH9 related disorders
Pathogenic
(Apr 5, 2011)
no assertion criteria provided
12.
GRCh37:
Chr22:36702031
GRCh38:
Chr22:36305985
MYH9May-Hegglin anomaly, Sebastian syndrome, Epstein syndrome,
Fechtner syndrome, MYH9 related disorders
Pathogenic
(Apr 5, 2011)
no assertion criteria provided
13.
GRCh37:
Chr22:36744995
GRCh38:
Chr22:36348950
MYH9Epstein syndrome, MYH9 related disordersPathogenic
(Apr 5, 2011)
no assertion criteria provided
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