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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:78403513
GRCh38:
Chr15:78111171
CIB2Usher syndrome, type 1, Usher syndrome, type 1JGMAF:0.00020(T)Pathogenic
(May 19, 2016)
no assertion criteria provided
2.
GRCh37:
Chr15:78398255
GRCh38:
Chr15:78105913
CIB2Deafness, autosomal recessive 48Pathogenic
(Nov 1, 2012)
no assertion criteria provided
3.
GRCh37:
Chr15:78401626
GRCh38:
Chr15:78109284
CIB2Deafness, autosomal recessive 48Pathogenic
(Nov 1, 2012)
no assertion criteria provided
4.
GRCh37:
Chr15:78401651
GRCh38:
Chr15:78109309
CIB2Deafness, autosomal recessive 48GO-ESP:0.00005(G)Pathogenic
(Nov 1, 2012)
no assertion criteria provided
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