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Items: 4

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:1497039
GRCh38:
Chr16:1447038
CLCN7Osteopetrosis autosomal dominant type 2, Osteopetrosis autosomal recessive 4Pathogenic
(Jun 20, 2013)
no assertion criteria provided
2.
GRCh37:
Chr16:1502857
GRCh38:
Chr16:1452856
CLCN7Osteopetrosis autosomal recessive 4, not specified, Osteopetrosis
Benign/Likely benign
(Jun 22, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr16:1509140
GRCh38:
Chr16:1459139
CLCN7Osteopetrosis autosomal recessive 4Pathogenic
(Jun 20, 2013)
no assertion criteria provided
4.
GRCh37:
Chr16:1511461
GRCh38:
Chr16:1461460
CLCN7Osteopetrosis autosomal dominant type 2, Osteopetrosis autosomal recessive 4, not provided
Likely pathogenic
(Mar 1, 2017)
criteria provided, single submitter
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