"GenomeConnect, ClinGen"[submitter] AND "NOD2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 319429	NM_001370466.1(NOD2):c.453C>G (p.Ser151=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +4 more	GBenign
Select item 319450	NM_001370466.1(NOD2):c.1680T>G (p.Arg560=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 1391926	NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)	NOD2 (A597V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance

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