ClinVar for MedGen (Select 3664) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997783	NM_052905.4(FMNL2):c.407T>C (p.Leu136Pro)	FMNL2 (L136P)	Single nucleotide variant (missense variant)	Crohn disease	GLikely pathogenic
Select item 319479	NM_001370466.1(NOD2):c.329_334dup	CYLD-AS1, NOD2	Duplication (3 prime UTR variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 319452	NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser)	NOD2 (A612S +1 more)	Single nucleotide variant (missense variant +1 more)	NOD2-related disorder +3 more	GLikely benign
Select item 319449	NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +3 more	GLikely benign
Select item 319418	NM_001370466.1(NOD2):c.-8-2340del	NOD2	Deletion (5 prime UTR variant +1 more)	Crohn disease +1 more	GLikely benign
Select item 4693	NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)	NOD2 (R702W +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +6 more	GConflicting classifications of pathogenicity; association
Select item 4691	NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	CYLD-AS1, NOD2 (L980fs +1 more)	Duplication	Autoinflammatory syndrome +6 more	GConflicting classifications of pathogenicity; association

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