S I D E B A R
Format
Sort by

Download:

Choose Destination

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

Search results

Items: 3

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:55241707
GRCh38:
Chr7:55174014
EGFRNon-small cell lung cancer, Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic, Neoplasm of the large intestine,
Tyrosine kinase inhibitor response, Colorectal Neoplasms
drug response
(Apr 20, 2012)
criteria provided, single submitter
2.
GRCh37:
Chr17:48268824
GRCh38:
Chr17:50191463
COL1A1Osteogenesis imperfecta type III, Dentinogenesis imperfecta, Recurrent fractures
Pathogenic
(Mar 15, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr19:18893936
GRCh38:
Chr19:18783126
COMPPseudoachondroplastic spondyloepiphyseal dysplasia syndromePathogenic
(Feb 28, 2013)
no assertion criteria provided
Format
Sort by

Download:

Choose Destination
Support Center