S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 7

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:48915465
GRCh38:
Chr2:48688326
LHCGR, STON1-GTF2A1Lnot providedLikely pathogenic
(Feb 24, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr2:48915879
GRCh38:
Chr2:48688740
LHCGR, STON1-GTF2A1Lnot specifiedUncertain significance
(Sep 12, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr2:48921438
GRCh38:
Chr2:48694299
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, not specified,
Hypergonadotropic hypogonadism
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr2:48950614
GRCh38:
Chr2:48723475
LHCGR, STON1-GTF2A1Lnot specifiedUncertain significance
(Feb 16, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr2:48950758
GRCh38:
Chr2:48723619
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, not specified,
Hypergonadotropic hypogonadism
Conflicting interpretations of pathogenicity
(Sep 12, 2017)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr2:48952813
GRCh38:
Chr2:48725674
LHCGR, STON1-GTF2A1Lnot providedPathogenic
(Aug 6, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr2:40965422-58090956
GRCh38:
Chr2:40738282-57863821
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center