"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812787	NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)	TP53RK (R243C)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 812788	NM_033550.4(TP53RK):c.128C>T (p.Ala43Val)	TP53RK (A43V)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GLikely pathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic

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