"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31228	NM_024589.3(ROGDI):c.532-2A>T	ROGDI	Single nucleotide variant (splice acceptor variant)	Amelocerebrohypohidrotic syndrome	GPathogenic
Select item 31227	NM_024589.3(ROGDI):c.531+5G>C	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely pathogenic
Select item 41465	NM_024589.3(ROGDI):c.507del (p.Glu170fs)	ROGDI (E170fs)	Deletion (frameshift variant +1 more)	Amelocerebrohypohidrotic syndrome +1 more	GPathogenic

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