TLR1[gene] - ClinVar - NCBI

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	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	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +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 1050451	NC_000004.12:g.38792855AT[27]	TLR1	Microsatellite	not provided	GUncertain significance
Select item 2480128	NM_003263.4(TLR1):c.2309C>G (p.Ala770Gly)	TLR1 (A770G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247148	NM_003263.4(TLR1):c.2284A>G (p.Lys762Glu)	TLR1 (K762E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312917	NM_003263.4(TLR1):c.2231A>G (p.His744Arg)	TLR1 (H744R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654725	NM_003263.4(TLR1):c.2159A>C (p.His720Pro)	TLR1 (H720P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3177989	NM_003263.4(TLR1):c.2149A>T (p.Asn717Tyr)	TLR1 (N717Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529766	NM_003263.4(TLR1):c.2147A>G (p.His716Arg)	TLR1 (H716R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239955	NM_003263.4(TLR1):c.2092T>G (p.Ser698Ala)	TLR1 (S698A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599698	NM_003263.4(TLR1):c.2072A>G (p.Tyr691Cys)	TLR1 (Y691C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316595	NM_003263.4(TLR1):c.2054C>T (p.Thr685Ile)	TLR1 (T685I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 983492	NM_003263.4(TLR1):c.2036T>C (p.Ile679Thr)	TLR1 (I679T)	Single nucleotide variant (missense variant)	Rheumatoid arthritis	GPathogenic
Select item 786815	NM_003263.4(TLR1):c.2028C>T (p.Gly676=)	TLR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 111265	NM_003263.4(TLR1):c.2020G>A (p.Val674Ile)	TLR1 (V674I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 111264	NM_003263.4(TLR1):c.1952T>C (p.Val651Ala)	TLR1 (V651A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 779876	NM_003263.4(TLR1):c.1938C>T (p.His646=)	TLR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3177987	NM_003263.4(TLR1):c.1928A>T (p.Tyr643Phe)	TLR1 (Y643F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209192	NM_003263.4(TLR1):c.1928A>G (p.Tyr643Cys)	TLR1 (Y643C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747589	NM_003263.4(TLR1):c.1902T>C (p.Asn634=)	TLR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2221946	NM_003263.4(TLR1):c.1858C>G (p.Arg620Gly)	TLR1 (R620G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8360	NM_003263.4(TLR1):c.1805G>T (p.Ser602Ile)	TLR1 (S602I)	Single nucleotide variant (missense variant)	TLR1-related disorder	GBenign
Select item 1050330	NM_003263.4(TLR1):c.1796C>T (p.Ser599Phe)	TLR1 (S599F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3177986	NM_003263.4(TLR1):c.1769T>C (p.Met590Thr)	TLR1 (M590T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177985	NM_003263.4(TLR1):c.1768A>G (p.Met590Val)	TLR1 (M590V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3032133	NM_003263.4(TLR1):c.1764C>T (p.Ala588=)	TLR1	Single nucleotide variant (synonymous variant)	TLR1-related disorder	GLikely benign
Select item 711908	NM_003263.4(TLR1):c.1760T>G (p.Val587Gly)	TLR1 (V587G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3030029	NM_003263.4(TLR1):c.1755C>T (p.Thr585=)	TLR1	Single nucleotide variant (synonymous variant)	TLR1-related disorder	GLikely benign
Select item 111263	NM_003263.4(TLR1):c.1661A>G (p.Tyr554Cys)	TLR1 (Y554C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2617421	NM_003263.4(TLR1):c.1656T>G (p.Asp552Glu)	TLR1 (D552E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300605	NM_003263.4(TLR1):c.1646G>A (p.Gly549Asp)	TLR1 (G549D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 111262	NM_003263.4(TLR1):c.1625T>C (p.Val542Ala)	TLR1 (V542A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3177984	NM_003263.4(TLR1):c.1597G>A (p.Gly533Arg)	TLR1 (G533R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780460	NM_003263.4(TLR1):c.1584T>C (p.Cys528=)	TLR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3177983	NM_003263.4(TLR1):c.1564G>T (p.Gly522Trp)	TLR1 (G522W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059108	NM_003263.4(TLR1):c.1518G>A (p.Ser506=)	TLR1	Single nucleotide variant (synonymous variant)	TLR1-related disorder	GBenign
Select item 787976	NM_003263.4(TLR1):c.1482A>G (p.Val494=)	TLR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2393912	NM_003263.4(TLR1):c.1474C>T (p.Leu492Phe)	TLR1 (L492F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393911	NM_003263.4(TLR1):c.1472G>A (p.Ser491Asn)	TLR1 (S491N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558927	NM_003263.4(TLR1):c.1421A>G (p.Asn474Ser)	TLR1 (N474S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049016	NM_003263.4(TLR1):c.1406C>T (p.Ala469Val)	TLR1 (A469V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 111261	NM_003263.4(TLR1):c.1378A>G (p.Ile460Val)	TLR1 (I460V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2204600	NM_003263.4(TLR1):c.1362C>A (p.Ser454Arg)	TLR1 (S454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365783	NM_003263.4(TLR1):c.1339A>C (p.Ile447Leu)	TLR1 (I447L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380908	NM_003263.4(TLR1):c.1333C>T (p.Pro445Ser)	TLR1 (P445S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047352	NM_003263.4(TLR1):c.1327T>A (p.Leu443Ile)	TLR1 (L443I)	Single nucleotide variant (missense variant)	TLR1-related disorder	GLikely benign
Select item 983493	NM_003263.4(TLR1):c.1324T>C (p.Cys442Arg)	TLR1 (C442R)	Single nucleotide variant (missense variant)	Rheumatoid arthritis	GPathogenic
Select item 2508149	NM_003263.4(TLR1):c.1184C>T (p.Thr395Ile)	TLR1 (T395I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267356	NM_003263.4(TLR1):c.1184C>G (p.Thr395Arg)	TLR1 (T395R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177981	NM_003263.4(TLR1):c.1139A>G (p.Gln380Arg)	TLR1 (Q380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767951	NM_003263.4(TLR1):c.1054C>A (p.His352Asn)	TLR1 (H352N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3042038	NM_003263.4(TLR1):c.1032A>G (p.Pro344=)	TLR1	Single nucleotide variant (synonymous variant)	TLR1-related disorder	GLikely benign
Select item 3067390	NM_003263.4(TLR1):c.948A>G (p.Gln316=)	TLR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3177995	NM_003263.4(TLR1):c.937G>A (p.Gly313Ser)	TLR1 (G313S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177994	NM_003263.4(TLR1):c.915C>A (p.His305Gln)	TLR1 (H305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056910	NM_003263.4(TLR1):c.914A>T (p.His305Leu)	TLR1 (H305L)	Single nucleotide variant (missense variant)	TLR1-related disorder	GBenign
Select item 2527701	NM_003263.4(TLR1):c.905T>C (p.Leu302Ser)	TLR1 (L302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177993	NM_003263.4(TLR1):c.830C>T (p.Ser277Leu)	TLR1 (S277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036250	NM_003263.4(TLR1):c.819A>G (p.Val273=)	TLR1	Single nucleotide variant (synonymous variant)	TLR1-related disorder	GLikely benign
Select item 2593887	NM_003263.4(TLR1):c.818T>C (p.Val273Ala)	TLR1 (V273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177992	NM_003263.4(TLR1):c.815C>G (p.Thr272Ser)	TLR1 (T272S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177991	NM_003263.4(TLR1):c.802G>T (p.Val268Phe)	TLR1 (V268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8361	NM_003263.4(TLR1):c.743A>G (p.Asn248Ser)	TLR1 (N248S)	Single nucleotide variant (missense variant)	TLR1-related disorder	GBenign
Select item 2263864	NM_003263.4(TLR1):c.667T>C (p.Cys223Arg)	TLR1 (C223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238673	NM_003263.4(TLR1):c.620A>C (p.Asp207Ala)	TLR1 (D207A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032840	NM_003263.4(TLR1):c.606C>T (p.Phe202=)	TLR1	Single nucleotide variant (synonymous variant)	TLR1-related disorder	GLikely benign
Select item 2524231	NM_003263.4(TLR1):c.604T>C (p.Phe202Leu)	TLR1 (F202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267297	NM_003263.4(TLR1):c.574C>G (p.Leu192Val)	TLR1 (L192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058426	NM_003263.4(TLR1):c.543T>C (p.Pro181=)	TLR1	Single nucleotide variant (synonymous variant)	TLR1-related disorder	GLikely benign
Select item 2330846	NM_003263.4(TLR1):c.526G>C (p.Gly176Arg)	TLR1 (G176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395350	NM_003263.4(TLR1):c.394T>G (p.Cys132Gly)	TLR1 (C132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177990	NM_003263.4(TLR1):c.370A>G (p.Asn124Asp)	TLR1 (N124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612726	NM_003263.4(TLR1):c.365C>T (p.Ser122Leu)	TLR1 (S122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508830	NM_003263.4(TLR1):c.322A>T (p.Ile108Phe)	TLR1 (I108F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049820	NM_003263.4(TLR1):c.321G>A (p.Lys107=)	TLR1	Single nucleotide variant (synonymous variant)	TLR1-related disorder	GLikely benign
Select item 3037177	NM_003263.4(TLR1):c.239G>C (p.Arg80Thr)	TLR1 (R80T)	Single nucleotide variant (missense variant)	TLR1-related disorder	GBenign
Select item 111266	NM_003263.4(TLR1):c.224T>C (p.Ile75Thr)	TLR1 (I75T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3057527	NM_003263.4(TLR1):c.213G>A (p.Leu71=)	TLR1	Single nucleotide variant (synonymous variant)	TLR1-related disorder	GLikely benign
Select item 3177988	NM_003263.4(TLR1):c.194T>G (p.Ile65Ser)	TLR1 (I65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775216	NM_003263.4(TLR1):c.171A>G (p.Ile57Met)	TLR1 (I57M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2379898	NM_003263.4(TLR1):c.145A>G (p.Ile49Val)	TLR1 (I49V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316260	NM_003263.4(TLR1):c.136A>G (p.Lys46Glu)	TLR1 (K46E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779877	NM_003263.4(TLR1):c.130T>C (p.Ser44Pro)	TLR1 (S44P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3056436	NM_003263.4(TLR1):c.114C>T (p.His38=)	TLR1	Single nucleotide variant (synonymous variant)	TLR1-related disorder	GBenign
Select item 3046166	NM_003263.4(TLR1):c.91A>G (p.Arg31Gly)	TLR1 (R31G)	Single nucleotide variant (missense variant)	TLR1-related disorder	GLikely benign
Select item 2462236	NM_003263.4(TLR1):c.89A>G (p.Asp30Gly)	TLR1 (D30G)	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	APBB2, CHRNA9 +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	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic

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