TLR6[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	LOC129992439, LOC129992440 +1039 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 3178052	NM_006068.5(TLR6):c.2327A>G (p.Asn776Ser)	TLR6 (N776S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178051	NM_006068.5(TLR6):c.2308C>T (p.Arg770Cys)	TLR6 (R770C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492387	NM_006068.5(TLR6):c.2240A>G (p.Lys747Arg)	TLR6 (K747R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404283	NM_006068.5(TLR6):c.2222A>G (p.Gln741Arg)	TLR6 (Q741R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379626	NM_006068.5(TLR6):c.2126G>C (p.Ser709Thr)	TLR6 (S709T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 111270	NM_006068.5(TLR6):c.2124G>C (p.Gln708His)	TLR6 (Q708H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2328227	NM_006068.5(TLR6):c.2041G>C (p.Gly681Arg)	TLR6 (G681R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178050	NM_006068.5(TLR6):c.2030A>G (p.Asn677Ser)	TLR6 (N677S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178049	NM_006068.5(TLR6):c.2002G>T (p.Asp668Tyr)	TLR6 (D668Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305850	NM_006068.5(TLR6):c.1952A>G (p.His651Arg)	TLR6 (H651R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364665	NM_006068.5(TLR6):c.1931C>A (p.Ala644Asp)	TLR6 (A644D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529409	NM_006068.5(TLR6):c.1910A>G (p.Gln637Arg)	TLR6 (Q637R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517915	NM_006068.5(TLR6):c.1891A>T (p.Ile631Leu)	TLR6 (I631L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357677	NM_006068.5(TLR6):c.1877G>A (p.Arg626His)	TLR6 (R626H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546401	NM_006068.5(TLR6):c.1859A>C (p.Gln620Pro)	TLR6 (Q620P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773694	NM_006068.5(TLR6):c.1775G>T (p.Gly592Val)	TLR6 (G592V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2495138	NM_006068.5(TLR6):c.1766T>C (p.Val589Ala)	TLR6 (V589A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208867	NM_006068.5(TLR6):c.1729_1730del (p.Met577fs)	TLR6 (M577fs)	Deletion (frameshift variant)	Abnormality of neuronal migration	GBenign
Select item 2316313	NM_006068.5(TLR6):c.1676A>G (p.Tyr559Cys)	TLR6 (Y559C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268447	NM_006068.5(TLR6):c.1630A>G (p.Ile544Val)	TLR6 (I544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178047	NM_006068.5(TLR6):c.1624A>C (p.Lys542Gln)	TLR6 (K542Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 791975	NM_006068.5(TLR6):c.1393G>A (p.Val465Ile)	TLR6 (V465I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 111269	NM_006068.5(TLR6):c.1325A>C (p.Asp442Ala)	TLR6 (D442A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2219135	NM_006068.5(TLR6):c.1090G>A (p.Val364Ile)	TLR6 (V364I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329519	NM_006068.5(TLR6):c.1013T>G (p.Ile338Ser)	TLR6 (I338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366152	NM_006068.5(TLR6):c.965C>T (p.Thr322Ile)	TLR6 (T322I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386178	NM_006068.5(TLR6):c.938C>T (p.Thr313Met)	TLR6 (T313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469236	NM_006068.5(TLR6):c.931C>T (p.His311Tyr)	TLR6 (H311Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178056	NM_006068.5(TLR6):c.877C>T (p.Arg293Cys)	TLR6 (R293C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785085	NM_006068.5(TLR6):c.861A>G (p.Thr287=)	TLR6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 111274	NM_006068.5(TLR6):c.847A>G (p.Ile283Val)	TLR6 (I283V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2298912	NM_006068.5(TLR6):c.817C>G (p.Leu273Val)	TLR6 (L273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408774	NM_006068.5(TLR6):c.748A>G (p.Thr250Ala)	TLR6 (T250A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710535	NM_006068.5(TLR6):c.745T>G (p.Ser249Ala)	TLR6 (S249A)	Single nucleotide variant (missense variant)	Leprosy, susceptibility to, 1	Gprotective
Select item 111273	NM_006068.5(TLR6):c.629C>G (p.Ala210Gly)	TLR6 (A210G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 111272	NM_006068.5(TLR6):c.628G>A (p.Ala210Thr)	TLR6 (A210T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2204935	NM_006068.5(TLR6):c.547A>G (p.Ile183Val)	TLR6 (I183V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380389	NM_006068.5(TLR6):c.506T>C (p.Leu169Ser)	TLR6 (L169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178055	NM_006068.5(TLR6):c.385T>C (p.Ser129Pro)	TLR6 (S129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 111271	NM_006068.5(TLR6):c.382C>G (p.Leu128Val)	TLR6 (L128V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3178054	NM_006068.5(TLR6):c.358A>G (p.Ile120Val)	TLR6 (I120V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270926	NM_006068.5(TLR6):c.352C>T (p.His118Tyr)	TLR6 (H118Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2537253	NM_006068.5(TLR6):c.311A>G (p.Tyr104Cys)	TLR6 (Y104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610283	NM_006068.5(TLR6):c.229G>A (p.Glu77Lys)	TLR6 (E77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428773	NM_006068.5(TLR6):c.228_229insT (p.Glu77Ter)	TLR6 (E77*)	Insertion (nonsense)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2271632	NM_006068.5(TLR6):c.224T>A (p.Leu75Gln)	TLR6 (L75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178048	NM_006068.5(TLR6):c.193G>A (p.Ala65Thr)	TLR6 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178045	NM_006068.5(TLR6):c.109G>C (p.Asp37His)	TLR6 (D37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259848	NM_006068.5(TLR6):c.103G>T (p.Ala35Ser)	TLR6 (A35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178053	NM_006068.5(TLR6):c.26T>C (p.Val9Ala)	TLR6 (V9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178046	NM_006068.5(TLR6):c.10G>A (p.Asp4Asn)	TLR6 (D4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2427542	NC_000004.11:g.(?_38765721)_(39478735_?)dup	FAM114A1, KLB +9 more	Duplication	not provided	GUncertain significance
Select item 1809112	GRCh37/hg19 4p14(chr4:38589565-38926476)x3	FAM114A1, KLF3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527080	GRCh37/hg19 4p14(chr4:38717326-39382906)	FAM114A1, KLHL5 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	N4BP2, SMIM14 +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 562906	GRCh37/hg19 4p14(chr4:38723586-39382906)x3	FAM114A1, KLHL5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 73