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Links from MedGen

Items: 22

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:111342589
GRCh38:
Chr3:111623742
CD96C syndromeUncertain significance
(Apr 11, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr3:111342670
GRCh38:
Chr3:111623823
CD96C syndromeUncertain significance
(May 6, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr3:111304239
GRCh38:
Chr3:111585392
CD96C syndrome, not providedBenign/Likely benign
(Sep 4, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr3:111319608
GRCh38:
Chr3:111600761
CD96D312fs, D328fsC syndromeUncertain significance
(Apr 28, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:111296396-111296414
GRCh38:
Chr3:111577549-111577567
CD96C syndromeUncertain significancecriteria provided, single submitter
6.
GRCh37:
Chr3:111304212
GRCh38:
Chr3:111585365
CD96D265G, D281GC syndromeUncertain significance
(Jun 3, 2020)
criteria provided, single submitter
7.
GRCh37:
Chr3:111368561
GRCh38:
Chr3:111649714
CD96P540S, P556SC syndromeUncertain significance
(Jun 3, 2020)
criteria provided, single submitter
8.
GRCh37:
Chr3:111356928
GRCh38:
Chr3:111638081
CD96N464D, N480DC syndromeUncertain significance
(Apr 15, 2020)
criteria provided, single submitter
9.
GRCh37:
Chr3:111298044-111298045
GRCh38:
Chr3:111579197-111579198
CD96I256fs, I240fsC syndromeUncertain significance
(Aug 2, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr3:111370747
GRCh38:
Chr3:111651900
CD96C syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr3:111370743-111370744
GRCh38:
Chr3:111651896-111651897
CD96C syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr3:111370743-111370744
GRCh38:
Chr3:111651896-111651897
CD96C syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr3:111370743-111370747
GRCh38:
Chr3:111651896-111651900
CD96C syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr3:111370731
GRCh38:
Chr3:111651884
CD96C syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr3:111370729
GRCh38:
Chr3:111651882
CD96C syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr3:111370017
GRCh38:
Chr3:111651170
CD96C syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr3:111369522
GRCh38:
Chr3:111650675
CD96C syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr3:111369497
GRCh38:
Chr3:111650650
CD96C syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr3:111368825
GRCh38:
Chr3:111649978
CD96C syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr3:111261145-111261146
GRCh38:
Chr3:111542298-111542299
CD96V19fsnot provided, C syndromeConflicting interpretations of pathogenicity
(May 20, 2022)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr3:111304209
GRCh38:
Chr3:111585362
CD96T280M, T264MC syndromePathogenic
(Oct 1, 2007)
no assertion criteria provided
22.
CD96C syndromePathogenic
(Oct 1, 2007)
no assertion criteria provided
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