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Items: 5

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:145509173
GRCh38:
Chr1:145925920
RBM8ARadial aplasia-thrombocytopenia syndromePathogenic
(Dec 8, 2016)
no assertion criteria provided
2.
GRCh37:
Chr1:145508476-145508477
GRCh38:
Chr1:145926616-145926617
RBM8ARadial aplasia-thrombocytopenia syndromePathogenic
(Dec 8, 2016)
no assertion criteria provided
3.
GRCh37:
Chr1:145507765
GRCh38:
Chr1:145927328
RBM8A, LIX1L-AS1Radial aplasia-thrombocytopenia syndrome, not providedGO-ESP:0.00492(C)
GO-ESP:0.99508(G)
GMAF:0.00080(C)
GO-ESP:0.00638(C)
Pathogenic/Likely pathogenic
(Dec 8, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:145507646
GRCh38:
Chr1:145927447
RBM8A, LIX1L-AS1Radial aplasia-thrombocytopenia syndrome, not providedGO-ESP:0.02122(A)
GMAF:0.00960(A)
GO-ESP:0.02368(A)
Pathogenic
(Dec 8, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:145413072-145596903
Radial aplasia-thrombocytopenia syndromePathogenic
(Feb 2, 2012)
no assertion criteria provided
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