C4310620[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 950012	NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr)	NOD2 (I104T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +5 more	GUncertain significance
Select item 1371235	NM_001370466.1(NOD2):c.1037G>A (p.Arg346His)	NOD2 (R346H +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GUncertain significance
Select item 957653	NM_001370466.1(NOD2):c.1087G>A (p.Asp363Asn)	NOD2 (D363N +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GUncertain significance
Select item 97824	NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser)	NOD2 (N414S +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GUncertain significance
Select item 1026999	NM_001370466.1(NOD2):c.1843A>G (p.Arg615Gly)	NOD2 (R615G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GUncertain significance
Select item 319461	NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly)	NOD2 (A725G +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +5 more	GBenign/Likely benign
Select item 97845	NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu)	NOD2 (P727L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 741062	NM_001370466.1(NOD2):c.2295C>T (p.Pro765=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +3 more	GLikely benign
Select item 97869	NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)	NOD2 (V955I +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +6 more	GBenign/Likely benign