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Results: 9

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:35559186
GRCh38:
Chr20:36930783
SAMHD1Aicardi Goutieres syndrome 5, Chilblain lupus 2GO-ESP:0.00008(T)Pathogenic
(Mar 13, 2014)
no assertion criteria provided
2.
GRCh37:
Chr20:35563514
GRCh38:
Chr20:36935111
SAMHD1Aicardi Goutieres syndrome 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
3.
GRCh37:
Chr20:35547859
GRCh38:
Chr20:36919456
SAMHD1Aicardi Goutieres syndrome 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
4.
GRCh37:
Chr20:35563573
GRCh38:
Chr20:36935170
SAMHD1Aicardi Goutieres syndrome 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
5.
GRCh37:
Chr20:35526329
GRCh38:
Chr20:36897926
SAMHD1Aicardi Goutieres syndrome 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
6.
GRCh37:
Chr20:35563496
GRCh38:
Chr20:36935093
SAMHD1Aicardi Goutieres syndrome 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
7.
SAMHD1Aicardi Goutieres syndrome 5Pathogenic
(May 8, 2012)
no assertion criteria provided
8.
GRCh37:
Chr20:35563508
GRCh38:
Chr20:36935105
SAMHD1Aicardi Goutieres syndrome 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
9.
GRCh37:
Chr20:35559163
GRCh38:
Chr20:36930760
SAMHD1Aicardi Goutieres syndrome 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided

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