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Results: 10

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
PDE1AMalignant melanomanot providednot classified by submitter2182241822
2.
PDE1AMalignant melanomanot providednot classified by submitter2182201445
3.
PDE1AMalignant melanomanot providednot classified by submitter2182240168
4.
ITGA4, NEUROD1, PDE1A, SSFA2, PPP1R1C, CERKLGlobal developmental delay, Short stature, Failure to thrive,
Abnormal facial shape
Pathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
5.
Intellectual functioning disability, Arachnodactyly, Autism,
Short 5th finger
Pathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
6.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
7.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
8.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
9.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
10.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter

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