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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:62457948
GRCh38:
Chr11:62690476
BSCL2, HNRNPUL2-BSCL2Charcot-Marie-Tooth disease, type 2, not specified, not provided
GMAF:0.00080(G)Conflicting interpretations of pathogenicity
(Apr 5, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr11:62458275
GRCh38:
Chr11:62690803
BSCL2, HNRNPUL2-BSCL2not specifiedGO-ESP:0.18328(C)
GMAF:0.13500(C)
Likely benignno assertion criteria provided
3.
GRCh37:
Chr11:62458588
GRCh38:
Chr11:62691116
BSCL2, HNRNPUL2-BSCL2not specifiedGMAF:0.00040(A)Uncertain significance
(Aug 6, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr11:62458748
GRCh38:
Chr11:62691276
BSCL2, HNRNPUL2-BSCL2not specifiedGMAF:0.00040(A)Uncertain significance
(Aug 6, 2015)
criteria provided, single submitter
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