"ITMI"[submitter] AND "CYLD"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133956	NM_001378743.1(CYLD):c.344A>G (p.Asn115Ser)	CYLD (N115S)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 133957	NM_001378743.1(CYLD):c.665C>A (p.Thr222Lys)	CYLD (T222K)	Single nucleotide variant (missense variant +2 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 133958	NM_001378743.1(CYLD):c.988G>C (p.Gly330Arg)	CYLD (G330R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133959	NM_001378743.1(CYLD):c.1292G>A (p.Gly431Glu)	CYLD (G431E +3 more)	Single nucleotide variant (missense variant +1 more)	Trichoepithelioma, multiple familial, 1 +3 more	GBenign/Likely benign
Select item 133955	NM_001378743.1(CYLD):c.1933G>A (p.Val645Ile)	CYLD, CYLD-AS2 (V645I +3 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 135510	NM_001378743.1(CYLD):c.2041+50C>A	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 5253	NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter)	CYLD-AS2, CYLD (R758* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

ClinVar