"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580821	NM_002016.2(FLG):c.7564C>T (p.Gln2522Ter)	CCDST, FLG (Q2522*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2 +1 more	GPathogenic
Select item 50932	NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	CCDST, FLG (R2447*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +4 more	GPathogenic/Likely pathogenic
Select item 982674	NM_002016.2(FLG):c.5476G>T (p.Gly1826Ter)	FLG, FLG-AS1 (G1826*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GUncertain significance
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 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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