"Undiagnosed Diseases Network, NIH"[submitter] AND "CTNS"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870585	NM_004937.3(CTNS):c.62-2864_225+2278del	CTNS	Deletion (splice acceptor variant +2 more)	Nephropathic cystinosis	GPathogenic
Select item 870586	NM_004937.3(CTNS):c.479del (p.Phe160fs)	CTNS, CTNS-AS1 (F13fs +1 more)	Deletion (frameshift variant)	Nephropathic cystinosis	GPathogenic
Select item 598746	Single allele	EMC6, HASPIN +8 more	Deletion	TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic

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