"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 859920	NM_001370466.1(NOD2):c.2903T>C (p.Ile968Thr)	CYLD-AS1, NOD2 (I968T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 648165	NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr)	CYLD-AS1, NOD2 (A973T +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 4691	NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	CYLD-AS1, NOD2 (L980fs +1 more)	Duplication	Blau syndrome +6 more	GConflicting classifications of pathogenicity; association
Select item 961982	NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly)	CYLD-AS1, NOD2 (R1009G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 757479	NM_001370466.1(NOD2):c.2979G>A (p.Gly993=)	CYLD-AS1, NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +2 more	GLikely benign
Select item 319492	NM_001370466.1(NOD2):c.*1156G>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Blau syndrome +3 more	GBenign

ClinVar