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Items: 7

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:18660136
GRCh38:
ChrX:18642016
RS1, CDKL5not providedUncertain significanceno assertion criteria provided
2.
GRCh37:
ChrX:18660214-18660216
GRCh38:
ChrX:18642094-18642096
RS1, CDKL5not providedUncertain significanceno assertion criteria provided
3.
GRCh37:
ChrX:18660220
GRCh38:
ChrX:18642100
RS1, CDKL5not providedUncertain significanceno assertion criteria provided
4.
GRCh37:
ChrX:18662638-18662685
GRCh38:
ChrX:18644518-18644565
RS1, CDKL5not providedUncertain significanceno assertion criteria provided
5.
GRCh37:
ChrX:18662696
GRCh38:
ChrX:18644576
RS1, CDKL5not providedUncertain significanceno assertion criteria provided
6.
GRCh37:
ChrX:18662698
GRCh38:
ChrX:18644578
RS1, CDKL5not providedUncertain significanceno assertion criteria provided
7.
GRCh37:
ChrX:18662723
GRCh38:
ChrX:18644603
RS1, CDKL5Juvenile retinoschisis, Macular schisis, Peripheral schisis
Uncertain significanceno assertion criteria provided
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