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Links from MedGen

Items: 8

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr21:27062221-27062224
GRCh38:
Chr21:25689909-25689912
JAM2Basal ganglia calcification, idiopathic, 8, autosomal recessivePathogenic
(Mar 27, 2020)
no assertion criteria provided
2.
GRCh37:
Chr21:27070987-27070988
GRCh38:
Chr21:25698675-25698676
JAM2Basal ganglia calcification, idiopathic, 8, autosomal recessivePathogenic
(Mar 27, 2020)
no assertion criteria provided
3.
GRCh37:
Chr21:27074569
GRCh38:
Chr21:25702257
JAM2R229*, R193*JAM2-related condition, not providedPathogenic
(Jan 18, 2023)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr21:27066149
GRCh38:
Chr21:25693837
JAM2R108H, R72HBasal ganglia calcification, idiopathic, 8, autosomal recessivePathogenic
(Mar 27, 2020)
no assertion criteria provided
5.
JAM2Basal ganglia calcification, idiopathic, 8, autosomal recessivePathogenic
(Mar 27, 2020)
no assertion criteria provided
6.
GRCh37:
Chr21:27071098
GRCh38:
Chr21:25698786
JAM2W168C, W132CBasal ganglia calcification, idiopathic, 8, autosomal recessivePathogenic
(Mar 30, 2020)
no assertion criteria provided
7.
GRCh37:
Chr21:27012134
GRCh38:
Chr21:25639822
JAM2M1VBasal ganglia calcification, idiopathic, 8, autosomal recessivePathogenic
(Mar 27, 2020)
no assertion criteria provided
8.
GRCh37:
Chr21:27062184
GRCh38:
Chr21:25689872
JAM2Basal ganglia calcification, idiopathic, 8, autosomal recessivePathogenic
(Mar 27, 2020)
no assertion criteria provided
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