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Items: 7

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:8139594
GRCh38:
Chr17:8236276
CTC1Cerebroretinal microangiopathy with calcifications and cystsPathogenic
(Jan 22, 2012)
no assertion criteria provided
2.
GRCh37:
Chr17:8133264-8133266
GRCh38:
Chr17:8229946-8229948
CTC1Cerebroretinal microangiopathy with calcifications and cystsPathogenic
(Aug 1, 2012)
no assertion criteria provided
3.
GRCh37:
Chr17:8134745
GRCh38:
Chr17:8231427
CTC1Cerebroretinal microangiopathy with calcifications and cystsGO-ESP:0.00016(A)Pathogenic
(Jan 22, 2012)
no assertion criteria provided
4.
GRCh37:
Chr17:8140710
GRCh38:
Chr17:8237392
CTC1Cerebroretinal microangiopathy with calcifications and cystsPathogenic
(Jan 22, 2012)
no assertion criteria provided
5.
GRCh37:
Chr17:8134652
GRCh38:
Chr17:8231334
CTC1Cerebroretinal microangiopathy with calcifications and cystsGO-ESP:0.00016(T)Pathogenic
(Jan 22, 2012)
no assertion criteria provided
6.
GRCh37:
Chr17:8133261
GRCh38:
Chr17:8229943
CTC1Cerebroretinal microangiopathy with calcifications and cystsGMAF:0.00040(A)Pathogenic
(Jan 22, 2012)
no assertion criteria provided
7.
GRCh37:
Chr17:8140758-8140761
GRCh38:
Chr17:8237440-8237443
CTC1Cerebroretinal microangiopathy with calcifications and cystsPathogenic
(Aug 1, 2012)
no assertion criteria provided
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