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Items: 7

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:102158120-102158121
GRCh38:
Chr12:101764342-101764343
GNPTABPseudo-Hurler polydystrophyPathogenic
(May 10, 2012)
no assertion criteria provided
2.
GRCh37:
Chr12:102157979
GRCh38:
Chr12:101764201
GNPTABPseudo-Hurler polydystrophyPathogenic
(May 10, 2012)
no assertion criteria provided
3.
GRCh37:
Chr12:102158014
GRCh38:
Chr12:101764236
GNPTABI cell diseasePathogenic
(May 10, 2012)
no assertion criteria provided
4.
GRCh37:
Chr12:102147277-102147278
GRCh38:
Chr12:101753499-101753500
GNPTABI cell diseasePathogenic
(May 10, 2012)
no assertion criteria provided
5.
GRCh37:
Chr12:102153884
GRCh38:
Chr12:101760106
GNPTABI cell diseasePathogenic
(May 10, 2012)
no assertion criteria provided
6.
GRCh37:
Chr12:102147187
GRCh38:
Chr12:101753409
GNPTABI cell disease, Pseudo-Hurler polydystrophyPathogenic
(Jun 2, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr12:102183729
GRCh38:
Chr12:101789951
GNPTABI cell diseasePathogenic
(May 10, 2012)
no assertion criteria provided
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