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Are you searching for an HGVS expression? Restrict your search to only ClinVar records for that variant

You may also find information on this variant by searching: All NCBI Databases, Google

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Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:123287338
GRCh38:
Chr9:120525060
CDK5RAP2Primary autosomal recessive microcephaly 3Pathogenic
(Jan 29, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr17:41246530
GRCh38:
Chr17:43094513
BRCA1Familial cancer of breast, Breast-ovarian cancer, familial 1Pathogenic
(May 1, 2012)
no assertion criteria provided