TLR4[gene] and "single gene"[properties] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250546	NM_138554.5(TLR4):c.137A>G (p.Tyr46Cys)	TLR4 (Y46C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2405333	NM_138554.5(TLR4):c.175C>G (p.Leu59Val)	TLR4 (L19V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067650	NM_138554.5(TLR4):c.182T>G (p.Leu61Arg)	TLR4 (L21R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3056126	NM_138554.5(TLR4):c.219C>G (p.Ser73Arg)	TLR4 (S33R +1 more)	Single nucleotide variant (missense variant +1 more)	TLR4-related disorder	GBenign
Select item 3326410	NM_138554.5(TLR4):c.245T>G (p.Val82Gly)	TLR4 (V82G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048219	NM_138554.5(TLR4):c.277A>G (p.Ile93Val)	TLR4 (I53V +1 more)	Single nucleotide variant (missense variant +1 more)	TLR4-related disorder	GLikely benign
Select item 739172	NM_138554.5(TLR4):c.339C>T (p.Pro113=)	TLR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3178027	NM_138554.5(TLR4):c.346A>G (p.Ser116Gly)	TLR4 (S76G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326411	NM_138554.5(TLR4):c.426G>C (p.Glu142Asp)	TLR4 (E102D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787708	NM_138554.5(TLR4):c.435C>A (p.Pro145=)	TLR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2606383	NM_138554.5(TLR4):c.436A>G (p.Ile146Val)	TLR4 (I106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717914	NM_138554.5(TLR4):c.489A>G (p.Gln163=)	TLR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1677299	NM_138554.5(TLR4):c.526_544del (p.Asn176fs)	TLR4 (N136fs +1 more)	Deletion (frameshift variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3033547	NM_138554.5(TLR4):c.523A>G (p.Thr175Ala)	TLR4 (T135A +1 more)	Single nucleotide variant (missense variant +1 more)	TLR4-related disorder	GLikely benign
Select item 2492539	NM_138554.5(TLR4):c.557A>G (p.Lys186Arg)	TLR4 (K186R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178028	NM_138554.5(TLR4):c.607C>G (p.Leu203Val)	TLR4 (L163V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178029	NM_138554.5(TLR4):c.614A>T (p.Asn205Ile)	TLR4 (N205I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386270	NM_138554.5(TLR4):c.826G>T (p.Ala276Ser)	TLR4 (A76S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100604	NM_138554.5(TLR4):c.842G>A (p.Cys281Tyr)	TLR4 (C281Y +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 6660	NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)	TLR4 (D299G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2549643	NM_138554.5(TLR4):c.901A>G (p.Ile301Val)	TLR4 (I261V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240216	NM_138554.5(TLR4):c.925A>T (p.Asn309Tyr)	TLR4 (N309Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261303	NM_138554.5(TLR4):c.1015A>G (p.Asn339Asp)	TLR4 (N139D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317818	NM_138554.5(TLR4):c.1017C>A (p.Asn339Lys)	TLR4 (N299K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178017	NM_138554.5(TLR4):c.1028G>T (p.Gly343Val)	TLR4 (G303V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779432	NM_138554.5(TLR4):c.1062A>G (p.Lys354=)	TLR4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2606551	NM_138554.5(TLR4):c.1093A>G (p.Asn365Asp)	TLR4 (N165D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315038	NM_138554.5(TLR4):c.1128G>T (p.Glu376Asp)	TLR4 (E176D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178018	NM_138554.5(TLR4):c.1141A>G (p.Ser381Gly)	TLR4 (S181G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6661	NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile)	TLR4 (T399I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713827	NM_138554.5(TLR4):c.1329C>T (p.Phe443=)	TLR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026025	NM_138554.5(TLR4):c.1366C>T (p.His456Tyr)	TLR4 (H256Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3178019	NM_138554.5(TLR4):c.1391A>T (p.Asn464Ile)	TLR4 (N424I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431163	NM_138554.5(TLR4):c.1431A>T (p.Lys477Asn)	TLR4 (K277N +2 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 3178020	NM_138554.5(TLR4):c.1445C>T (p.Ser482Phe)	TLR4 (S482F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326409	NM_138554.5(TLR4):c.1484T>G (p.Leu495Arg)	TLR4 (L455R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754607	NM_138554.5(TLR4):c.1521A>G (p.Gln507=)	TLR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039260	NM_138554.5(TLR4):c.1530G>T (p.Gln510His)	TLR4 (Q310H +2 more)	Single nucleotide variant (missense variant)	TLR4-related disorder	GBenign
Select item 766142	NM_138554.5(TLR4):c.1635C>T (p.Ser545=)	TLR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2474294	NM_138554.5(TLR4):c.1676C>T (p.Ser559Phe)	TLR4 (S519F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300933	NM_138554.5(TLR4):c.1688A>G (p.Glu563Gly)	TLR4 (E523G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299259	NM_138554.5(TLR4):c.1779G>A (p.Trp593Ter)	TLR4 (W393* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3178021	NM_138554.5(TLR4):c.1822G>A (p.Glu608Lys)	TLR4 (E408K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539013	NM_138554.5(TLR4):c.1855C>T (p.Pro619Ser)	TLR4 (P579S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178022	NM_138554.5(TLR4):c.1865G>A (p.Ser622Asn)	TLR4 (S582N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039442	NM_138554.5(TLR4):c.1899C>A (p.Ile633=)	TLR4	Single nucleotide variant (synonymous variant)	TLR4-related disorder	GLikely benign
Select item 2323460	NM_138554.5(TLR4):c.1955A>G (p.Tyr652Cys)	TLR4 (Y612C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786820	NM_138554.5(TLR4):c.1959G>A (p.Lys653=)	TLR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2309507	NM_138554.5(TLR4):c.2046C>A (p.Ser682Arg)	TLR4 (S642R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1284920	NM_138554.5(TLR4):c.2288G>A (p.Arg763His)	TLR4 (R563H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1050213	NM_138554.5(TLR4):c.2308G>A (p.Val770Ile)	TLR4 (V570I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3178023	NM_138554.5(TLR4):c.2320G>C (p.Val774Leu)	TLR4 (V574L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267453	NM_138554.5(TLR4):c.2348T>C (p.Val783Ala)	TLR4 (V743A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178024	NM_138554.5(TLR4):c.2350G>C (p.Glu784Gln)	TLR4 (E744Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178025	NM_138554.5(TLR4):c.2472A>C (p.Glu824Asp)	TLR4 (E624D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 827601	NM_138554.5(TLR4):c.2474G>A (p.Gly825Glu)	TLR4 (G625E +2 more)	Single nucleotide variant (missense variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 3178026	NM_138554.5(TLR4):c.2483G>A (p.Gly828Asp)	TLR4 (G628D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2431069	NM_138554.5(TLR4):c.*455G>A	TLR4	Single nucleotide variant (3 prime UTR variant)	Lung adenocarcinoma	GLikely benign
Select item 1276780	NM_138554.5(TLR4):c.*2010G>C	TLR4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2431184	NM_138554.5(TLR4):c.*4092C>T	TLR4	Single nucleotide variant (3 prime UTR variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431150	NM_138554.5(TLR4):c.*6290C>A	TLR4	Single nucleotide variant (3 prime UTR variant)	Squamous cell carcinoma	GLikely benign
Select item 1049914	NC_000009.12:g.117724891CA[28]	TLR4	Microsatellite	not provided	GUncertain significance
Select item 1809467	GRCh37/hg19 9q33.1(chr9:120197413-120521544)x3	TLR4	Copy number gain	not provided	GUncertain significance

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Items: 63