"Genomics England Pilot Project, Genomics England"[submitter] AND "FLG - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225060	NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)	CCDST, FLG (S2080*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1184492	NM_002016.2(FLG):c.1739del (p.Gly580fs)	FLG, FLG-AS1 (G580fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 16319	NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	CCDST, FLG (R501*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +5 more	GPathogenic/Likely pathogenic

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