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Results: 3

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
CHRNGLethal multiple pterygium syndromePathogenic/Likely pathogenic
(Apr 26, 2012)
classified by single submitter
2.
CHRNGMultiple pterygium syndrome Escobar typePathogenic/Likely pathogenic
(Apr 26, 2012)
classified by single submitter2232540072
3.
CHRNGMultiple pterygium syndrome Escobar type, Lethal multiple pterygium syndromePathogenic/Likely pathogenic
(Apr 26, 2012)
classified by multiple submitters2232540681

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