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Items: 5

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:11133053
GRCh38:
ChrX:11114933
HCCSLinear skin defects with multiple congenital anomalies 1Likely pathogenic
(Dec 18, 2017)
criteria provided, single submitter
2.
GRCh37:
ChrX:11136694
GRCh38:
ChrX:11118574
HCCSLinear skin defects with multiple congenital anomalies 1Pathogenic
(Aug 18, 2011)
no assertion criteria provided
3.
GRCh37:
ChrX:11139772
GRCh38:
ChrX:11121652
HCCSLinear skin defects with multiple congenital anomalies 1Pathogenic
(Aug 18, 2011)
no assertion criteria provided
4.
GRCh37:
ChrX:11139094
GRCh38:
ChrX:11120974
HCCSLinear skin defects with multiple congenital anomalies 1Pathogenic
(Aug 18, 2011)
no assertion criteria provided
5.
HCCSLinear skin defects with multiple congenital anomalies 1Pathogenic
(Nov 1, 2006)
no assertion criteria provided
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