"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 578746	NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter)	PHKA1 (R298*)	Single nucleotide variant (nonsense)	Glycogen phosphorylase kinase deficiency +1 more	GPathogenic
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic