"Revvity Omics, Revvity"[submitter] AND "ERCC6L2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 421974	NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter)	ERCC6L2 (Q7*)	Single nucleotide variant (nonsense +1 more)	Pancytopenia-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1324347	NM_020207.7(ERCC6L2):c.1682_1683del (p.Glu561fs)	ERCC6L2 (E561fs)	Microsatellite (frameshift variant +1 more)	Pancytopenia-developmental delay syndrome	GLikely pathogenic