ClinVar for MedGen (Select 57509) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 9589	NC_012920.1:m.3243A>G	MT-TL1	Single nucleotide variant	Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 +12 more	GPathogenic/Likely pathogenic