"OMIM"[submitter] AND "ERCC6L2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 125450	NM_020207.7(ERCC6L2):c.1203_1206del (p.Thr402fs)	ERCC6L2 (T402fs)	Deletion (frameshift variant +1 more)	Pancytopenia-developmental delay syndrome	GPathogenic
Select item 125449	NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)	ERCC6L2 (R644*)	Single nucleotide variant (nonsense +1 more)	Pancytopenia-developmental delay syndrome +2 more	GPathogenic