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Links from PubMed

Items: 5

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
CBLnot specifiedUncertain significance
(May 8, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr11:119149218
GRCh38:
Chr11:119278508
CBLJuvenile myelomonocytic leukemia, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Rasopathy
Pathogenic/Likely pathogenic
(Feb 10, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr11:119149011
GRCh38:
Chr11:119278301
CBLnot specified, RasopathyGO-ESP:0.00031(T)Benign/Likely benign
(Mar 11, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr11:119148875
GRCh38:
Chr11:119278165
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaPathogenic
(Dec 6, 2012)
criteria provided, single submitter
5.
GRCh37:
Chr11:119148891
GRCh38:
Chr11:119278181
CBLNoonan syndrome-like disorder with juvenile myelomonocytic leukemiaPathogenic
(Oct 1, 2010)
no assertion criteria provided
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