ClinVar for MedGen (Select 394303) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 319570	NM_001378743.1(CYLD):c.4888_4889del	CYLD, CYLD-AS2	Deletion (3 prime UTR variant +1 more)	Trichoepithelioma, multiple familial, 2 +2 more	GBenign
Select item 319548	NM_001378743.1(CYLD):c.*3119del	CYLD, CYLD-AS2	Deletion (3 prime UTR variant +1 more)	Trichoepithelioma, multiple familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 319533	NM_001378743.1(CYLD):c.2121_2122del	CYLD-AS2, CYLD	Deletion (3 prime UTR variant +1 more)	Trichoepithelioma, multiple familial, 2 +2 more	GUncertain significance
Select item 319532	NM_001378743.1(CYLD):c.*2122del	CYLD, CYLD-AS2	Deletion (3 prime UTR variant +1 more)	Trichoepithelioma, multiple familial, 2 +2 more	GBenign
Select item 319524	NM_001378743.1(CYLD):c.*1587dup	CYLD-AS2, CYLD	Duplication (3 prime UTR variant +1 more)	Trichoepithelioma, multiple familial, 2 +2 more	GUncertain significance
Select item 319509	NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile)	CYLD-AS2, CYLD (T822I +3 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 +3 more	GUncertain significance

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