rs104895438[Variant ID] - ClinVar

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VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 3194521.	NM_022162.2(NOD2):c.1834G>T (p.Ala612Ser) GRCh37: Chr16:50745656 GRCh38: Chr16:50711745	NOD2	Blau syndrome, Crohn disease	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 47002.	NM_022162.2(NOD2):c.1834G>A (p.Ala612Thr) GRCh37: Chr16:50745656 GRCh38: Chr16:50711745	NOD2	Sarcoidosis, early-onset, Blau syndrome, Crohn disease	Likely benign (Jun 14, 2016)	criteria provided, single submitter

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