C0079584[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324414	NM_002016.2(FLG):c.10051_10054del (p.Asp3351fs)	CCDST, FLG (D3351fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 546021	NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)	CCDST, FLG (R2613*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +2 more	GPathogenic/Likely pathogenic
Select item 280218	NM_002016.2(FLG):c.7487del (p.Thr2496fs)	CCDST, FLG (T2496fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324411	NM_002016.2(FLG):c.6014_6015del (p.His2005fs)	CCDST, FLG (H2005fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 817794	NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs)	CCDST, FLG (E1605fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324413	NM_002016.2(FLG):c.3766C>T (p.Gln1256Ter)	CCDST, FLG (Q1256*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GPathogenic
Select item 2441463	NM_002016.2(FLG):c.3280C>A (p.Pro1094Thr)	CCDST, FLG (P1094T)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GUncertain significance
Select item 1322923	NM_002016.2(FLG):c.2779C>T (p.Gln927Ter)	CCDST, FLG (Q927*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GPathogenic
Select item 265156	NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	CCDST, FLG (R826*)	Single nucleotide variant (nonsense)	FLG-related disorder +3 more	GPathogenic/Likely 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
Select item 1322922	NM_002016.2(FLG):c.138+1G>C	CCDST, FLG	Single nucleotide variant (splice donor variant)	Dermatitis, atopic, 2 +1 more	GPathogenic/Likely pathogenic