ClinVar for MedGen (Select 1713342) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321339	NM_006820.4(IFI44L):c.873T>A (p.Tyr291Ter)	IFI44L (Y291* +1 more)	Single nucleotide variant (nonsense)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321338	NM_052962.3(IL22RA2):c.115C>T (p.Arg39Ter)	IL22RA2 (R39*)	Single nucleotide variant (nonsense)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321337	NM_145725.3(TRAF3):c.1111G>A (p.Ala371Thr)	TRAF3 (A288T +4 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1321336	NM_002348.4(LY9):c.1052_1053del (p.His351fs)	LY9 (H351fs)	Deletion (frameshift variant)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321335	NM_001571.6(IRF3):c.1070C>T (p.Pro357Leu)	IRF3 (P211L +4 more)	Single nucleotide variant (synonymous variant +2 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321334	NM_001289125.3(IFNAR2):c.1391A>C (p.Asn464Thr)	IFNAR2, IFNAR2-IL10RB (N464T)	Single nucleotide variant (3 prime UTR variant +2 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321333	NM_001289125.3(IFNAR2):c.733G>C (p.Gly245Arg)	IFNAR2, IFNAR2-IL10RB (G245R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1321332	NM_182985.5(TRIM69):c.1404C>A (p.Phe468Leu)	TRIM69 (F231L +4 more)	Single nucleotide variant (missense variant)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321331	NM_021068.4(IFNA4):c.60T>A (p.Cys20Ter)	IFNA4 (C20*)	Single nucleotide variant (nonsense)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321330	NM_006417.5(IFI44):c.732C>G (p.Tyr244Ter)	IFI44 (Y244*)	Single nucleotide variant (nonsense +1 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321329	NM_006068.5(TLR6):c.337C>T (p.Gln113Ter)	TLR6 (Q113*)	Single nucleotide variant (nonsense)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321328	NM_017852.5(NLRP2):c.632dup (p.Tyr212fs)	NLRP2 (Y189fs +3 more)	Duplication (frameshift variant +1 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321327	NM_203416.4(CD163):c.3223C>T (p.Arg1075Ter)	CD163 (R1075*)	Single nucleotide variant (nonsense +1 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321326	NM_003874.4(CD84):c.319del (p.Tyr107fs)	CD84, LOC105371468 (Y107fs)	Deletion (frameshift variant +1 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321325	NM_002175.2(IFNA21):c.376G>T (p.Glu126Ter)	IFNA21 (E126*)	Single nucleotide variant (nonsense)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321324	NM_021002.2(IFNA6):c.187C>T (p.Gln63Ter)	IFNA6 (Q63*)	Single nucleotide variant (nonsense)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321323	NM_002176.4(IFNB1):c.403G>T (p.Gly135Ter)	IFNB1 (G135*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 580488	NM_022168.4(IFIH1):c.2016del (p.Asp673fs)	IFIH1 (D673fs)	Deletion (frameshift variant)	Immunodeficiency 95 +3 more	GConflicting classifications of pathogenicity
Select item 495314	NM_003265.3(TLR3):c.889C>G (p.Leu297Val)	TLR3 (L297V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GLikely benign
Select item 330007	NM_144687.4(NLRP12):c.2828_2829dup (p.Arg944fs)	NLRP12 (R944fs +1 more)	Duplication (frameshift variant +1 more)	Familial cold autoinflammatory syndrome 2 +2 more	GLikely benign
Select item 330001	NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)	NLRP12 (R1016* +2 more)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 261563	NM_022168.4(IFIH1):c.1641+1G>C	IFIH1	Single nucleotide variant (splice donor variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 190265	NM_007199.3(IRAK3):c.1461del (p.Asn487fs)	IRAK3 (N487fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 5990	NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter)	RAB27A (Q118*)	Single nucleotide variant (nonsense)	See cases +1 more	GPathogenic

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Items: 24