"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 627298	NM_018947.6(CYCS):c.308C>T (p.Thr103Ile)	CYCS (T103I)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 812966	NM_018947.6(CYCS):c.295C>G (p.Leu99Val)	CYCS (L99V)	Single nucleotide variant (missense variant)	Thrombocytopenia	GLikely pathogenic
Select item 16917	NM_018947.6(CYCS):c.124G>A (p.Gly42Ser)	CYCS (G42S)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GLikely pathogenic

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ClinVar