ClinVar for MedGen (Select 416638) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242191	NM_003265.3(TLR3):c.2077dup (p.Thr693fs)	TLR3 (T693fs)	Duplication (frameshift variant)	Immunodeficiency 83, susceptibility to viral infections	GUncertain significance
Select item 2585561	NM_003265.3(TLR3):c.1873G>T (p.Val625Phe)	TLR3 (V625F)	Single nucleotide variant (missense variant)	Immunodeficiency 83, susceptibility to viral infections	GUncertain significance
Select item 2153676	NM_003265.3(TLR3):c.2394del (p.Phe798fs)	TLR3 (F798fs)	Deletion (frameshift variant)	Immunodeficiency 83, susceptibility to viral infections +1 more	GUncertain significance
Select item 1177576	NM_003265.3(TLR3):c.2039C>T (p.Pro680Leu)	TLR3 (P680L)	Single nucleotide variant (missense variant)	Immunodeficiency 83, susceptibility to viral infections	Grisk factor
Select item 1177575	NM_003265.3(TLR3):c.597A>T (p.Leu199Phe)	TLR3	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1170782	NM_003265.3(TLR3):c.2224C>T (p.Leu742Phe)	TLR3 (L742F)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GBenign
Select item 1002005	NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter)	TLR3 (R867*)	Single nucleotide variant (nonsense)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 570922	NM_003265.3(TLR3):c.554C>T (p.Ala185Val)	TLR3 (A185V)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection +2 more	GUncertain significance
Select item 569628	NM_003265.3(TLR3):c.176C>A (p.Thr59Asn)	TLR3 (T59N)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection +2 more	GUncertain significance
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 495313	NM_003265.3(TLR3):c.1079T>C (p.Leu360Pro)	TLR3 (L360P)	Single nucleotide variant (missense variant)	Immunodeficiency 83, susceptibility to viral infections	Grisk factor
Select item 495312	NM_003265.2(TLR3):c.[2228G>A;2432G>T]	TLR3 (G743D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 83, susceptibility to viral infections	Grisk factor
Select item 495311	NM_003265.3(TLR3):c.2600G>A (p.Arg867Gln)	TLR3 (R867Q)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 495310	NM_003265.3(TLR3):c.2236G>T (p.Glu746Ter)	TLR3 (E746*)	Single nucleotide variant (nonsense)	Immunodeficiency 83, susceptibility to viral infections	Grisk factor
Select item 41472	NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe)	TLR3 (L412F)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 6662	NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser)	TLR3 (P554S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +3 more	GUncertain significance