C1857941[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 319497	NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser)	CYLD (I20S)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1327096	NM_001378743.1(CYLD):c.170A>G (p.His57Arg)	CYLD (H57R)	Single nucleotide variant (missense variant +2 more)	Brooke-Spiegler syndrome	GUncertain significance
Select item 267232	NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)	CYLD (S371* +2 more)	Single nucleotide variant (nonsense +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 +4 more	GPathogenic
Select item 319501	NM_001378743.1(CYLD):c.1166C>G (p.Thr389Arg)	CYLD (T389R +2 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 +3 more	GUncertain significance
Select item 267249	NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)	CYLD, CYLD-AS2 (K767* +3 more)	Single nucleotide variant (nonsense +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 +2 more	GPathogenic
Select item 319509	NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile)	CYLD, CYLD-AS2 (T822I +3 more)	Single nucleotide variant (missense variant +1 more)	Trichoepithelioma, multiple familial, 2 +3 more	GUncertain significance

ClinVar