ClinVar for MedGen (Select 934587) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675106	NM_001370466.1(NOD2):c.963A>G (p.Leu321=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1371235	NM_001370466.1(NOD2):c.1037G>A (p.Arg346His)	NOD2 (R346H +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 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 992540	NM_001370466.1(NOD2):c.2116G>A (p.Val706Met)	NOD2 (V706M +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 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)	Regional enteritis +4 more	GUncertain significance
Select item 950012	NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr)	NOD2 (I104T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 931759	NM_001370466.1(NOD2):c.749G>A (p.Gly250Asp)	NOD2 (G250D +1 more)	Single nucleotide variant (missense variant +1 more)	Yao syndrome	GUncertain significance
Select item 827986	NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met)	NOD2 (T569M +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GUncertain significance
Select item 779017	NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)	NOD2 (R657Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +6 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 625983	NM_001370466.1(NOD2):c.1529C>A (p.Pro510His)	NOD2 (P537H +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +2 more	GUncertain significance
Select item 581748	NM_001370466.1(NOD2):c.22C>T (p.Gln8Ter)	NOD2 (Q35* +1 more)	Single nucleotide variant (nonsense +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 319472	NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 319462	NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)	NOD2 (A755V +1 more)	Single nucleotide variant (missense variant +1 more)	NOD2-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 319461	NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly)	NOD2 (A725G +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +5 more	GBenign/Likely benign
Select item 97885	NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)	NOD2 (R311W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
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
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 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 4700	NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)	NOD2 (A612T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +5 more	GConflicting classifications of pathogenicity
Select item 4697	NM_001370466.1(NOD2):c.2717+158C>T	NOD2	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 4693	NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)	NOD2 (R702W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity; association
Select item 4692	NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)	NOD2 (G908R +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +7 more	GConflicting classifications of pathogenicity; association
Select item 4691	NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	CYLD-AS1, NOD2 (L980fs +1 more)	Duplication	Yao syndrome +6 more	GConflicting classifications of pathogenicity; association

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Items: 24