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Items: 3

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:107938039
GRCh38:
ChrX:108694809
COL4A5Alport syndrome, X-linked recessivePathogenic
(Feb 28, 2013)
no assertion criteria provided
2.
GRCh37:
ChrX:107938639
GRCh38:
ChrX:108695409
COL4A5Alport syndrome, X-linked recessive, not providedPathogenic
(Aug 25, 2015)
criteria provided, single submitter
3.
GRCh37:
ChrX:107939580
GRCh38:
ChrX:108696350
COL4A5Alport syndrome, X-linked recessivePathogenic
(Feb 28, 2013)
no assertion criteria provided
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