ClinVar for Gene (Select 7099) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3063087	GRCh37/hg19 9q33.1(chr9:119920495-122047673)x3	ASTN2, BRINP1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
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 condition	GBenign
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 condition	GLikely benign
Select item 3039442	NM_138554.5(TLR4):c.1899C>A (p.Ile633=)	TLR4	Single nucleotide variant (synonymous variant)	TLR4-related condition	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 condition	GBenign
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 condition	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 3024646	GRCh37/hg19 9q33.1(chr9:119278687-121653529)x3	ASTN2, TLR4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684587	GRCh37/hg19 9q33.1(chr9:120399944-122017413)x3	BRINP1, TLR4	Copy number gain	not provided	GUncertain significance
Select item 2684585	GRCh37/hg19 9q33.1(chr9:119924833-122047532)x3	ASTN2, BRINP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684584	GRCh37/hg19 9q33.1(chr9:119347611-122171551)x3	ASTN2, BRINP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2613884	NM_138554.5(TLR4):c.22G>T (p.Ala8Ser)	LOC126860749, TLR4 (A8S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606551	NM_138554.5(TLR4):c.1093A>G (p.Asn365Asp)	TLR4 (N165D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606383	NM_138554.5(TLR4):c.436A>G (p.Ile146Val)	TLR4 (I106V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549643	NM_138554.5(TLR4):c.901A>G (p.Ile301Val)	TLR4 (I261V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539013	NM_138554.5(TLR4):c.1855C>T (p.Pro619Ser)	TLR4 (P579S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492539	NM_138554.5(TLR4):c.557A>G (p.Lys186Arg)	TLR4 (K186R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474294	NM_138554.5(TLR4):c.1676C>T (p.Ser559Phe)	TLR4 (S519F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431184	NM_138554.5(TLR4):c.*4092C>T	TLR4	Single nucleotide variant (3 prime UTR variant)	Lung adenocarcinoma	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 2431158	NM_138554.5(TLR4):c.6G>T (p.Met2Ile)	LOC126860749, TLR4 (M2I)	Single nucleotide variant (5 prime UTR variant +1 more)	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 2431069	NM_138554.5(TLR4):c.*455G>A	TLR4	Single nucleotide variant (3 prime UTR variant)	Lung adenocarcinoma	GLikely benign
Select item 2409803	NM_138554.5(TLR4):c.61G>A (p.Val21Met)	LOC126860749, TLR4 (V21M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405333	NM_138554.5(TLR4):c.175C>G (p.Leu59Val)	TLR4 (L19V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386270	NM_138554.5(TLR4):c.826G>T (p.Ala276Ser)	TLR4 (A76S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354214	NM_138554.5(TLR4):c.64A>G (p.Arg22Gly)	LOC126860749, TLR4 (R22G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323460	NM_138554.5(TLR4):c.1955A>G (p.Tyr652Cys)	TLR4 (Y612C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317818	NM_138554.5(TLR4):c.1017C>A (p.Asn339Lys)	TLR4 (N299K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315038	NM_138554.5(TLR4):c.1128G>T (p.Glu376Asp)	TLR4 (E176D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309507	NM_138554.5(TLR4):c.2046C>A (p.Ser682Arg)	TLR4 (S642R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300933	NM_138554.5(TLR4):c.1688A>G (p.Glu563Gly)	TLR4 (E523G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267453	NM_138554.5(TLR4):c.2348T>C (p.Val783Ala)	TLR4 (V743A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261303	NM_138554.5(TLR4):c.1015A>G (p.Asn339Asp)	TLR4 (N139D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240216	NM_138554.5(TLR4):c.925A>T (p.Asn309Tyr)	TLR4 (N309Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809467	GRCh37/hg19 9q33.1(chr9:120197413-120521544)x3	TLR4	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
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 1527557	GRCh37/hg19 9q33.1(chr9:119722551-121219732)	ASTN2, TLR4	Copy number gain	not specified	GUncertain significance
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 1330179	GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1	ASTN2, BRINP1 +19 more	Copy number loss	Intellectual disability, borderline +5 more	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 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 1276780	NM_138554.5(TLR4):c.*2010G>C	TLR4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 1049914	NC_000009.12:g.117724891CA[28]	TLR4	Microsatellite	not provided	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 787708	NM_138554.5(TLR4):c.435C>A (p.Pro145=)	TLR4	Single nucleotide variant (synonymous variant +1 more)	TLR4-related condition +1 more	GBenign/Likely benign
Select item 786820	NM_138554.5(TLR4):c.1959G>A (p.Lys653=)	TLR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 766142	NM_138554.5(TLR4):c.1635C>T (p.Ser545=)	TLR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754607	NM_138554.5(TLR4):c.1521A>G (p.Gln507=)	TLR4	Single nucleotide variant (synonymous variant)	not provided	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 717914	NM_138554.5(TLR4):c.489A>G (p.Gln163=)	TLR4	Single nucleotide variant (synonymous variant +1 more)	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 687863	GRCh37/hg19 9q33.1(chr9:119501624-120870515)x3	ASTN2, TLR4	Copy number gain	not provided	GUncertain significance
Select item 687538	GRCh37/hg19 9q33.1(chr9:119924909-122047532)x3	ASTN2, BRINP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687462	GRCh37/hg19 9q33.1(chr9:120400158-122016593)x3	BRINP1, TLR4	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685300	GRCh37/hg19 9q33.1(chr9:119920495-122047532)x3	ASTN2, BRINP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 563668	GRCh37/hg19 9q33.1(chr9:120063442-121802501)x3	TLR4, ASTN2	Copy number gain	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 443716	GRCh37/hg19 9q33.1(chr9:118602947-121246861)x1	ASTN2, PAPPA +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 442115	GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1	AKNA, ALAD +48 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160940	GRCh38/hg38 9q33.1(chr9:117189877-119261350)x3	ASTN2, BRINP1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153042	GRCh38/hg38 9q33.1(chr9:117027717-119196572)x3	ASTN2, BRINP1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	TMEM268, TNC +377 more	Copy number loss	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 148228	GRCh38/hg38 9q33.1(chr9:117132868-119269252)x3	ASTN2, BRINP1 +11 more	Copy number gain	See cases	GLikely benign
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 34714	GRCh38/hg38 9q33.1(chr9:117189877-119261350)x3	ASTN2, BRINP1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 6661	NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile)	TLR4 (T399I +2 more)	Single nucleotide variant (missense variant)	TLR4 POLYMORPHISM +1 more	GConflicting classifications of pathogenicity
Select item 6660	NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)	TLR4 (D299G +2 more)	Single nucleotide variant (missense variant)	TLR4 POLYMORPHISM +3 more	GConflicting classifications of pathogenicity; protective

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Links from Gene

Items: 91