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Items: 4

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:5950972
GRCh38:
Chr1:5890912
NPHP4Renal dysplasia and retinal aplasia, NephronophthisisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr16:53686549
GRCh38:
Chr16:53652637
RPGRIP1LJoubert syndrome 7Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
3.
RPGRIP1LJoubert syndrome 7Pathogenic
(Jul 1, 2007)
no assertion criteria provided
4.
GRCh37:
Chr16:53686756
GRCh38:
Chr16:53652844
RPGRIP1LJoubert syndrome 7, not providedPathogenic
(Apr 6, 2016)
criteria provided, multiple submitters, no conflicts
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