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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:104868106-120471049
GRCh38:
Chr1:104325484-119977655
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
2.
GRCh37:
Chr1:106010914-112733248
GRCh38:
Chr1:105468292-112190626
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
3.
GRCh37:
Chr1:102083653-112245650
GRCh38:
Chr1:101618097-111703028
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr1:110299252-119192827
GRCh38:
Chr1:109756630-118650204
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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