7100[geneid] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	See cases	GPathogenic
Select item 146329	GRCh38/hg38 1q41(chr1:222676842-223882311)x1	AIDA, BROX +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 2360589	NM_003268.6(TLR5):c.2552T>C (p.Leu851Ser)	TLR5 (L851S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252619	NM_003268.6(TLR5):c.2537A>G (p.Asp846Gly)	TLR5 (D846G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 785793	NM_003268.6(TLR5):c.2493A>G (p.Lys831=)	TLR5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2314543	NM_003268.6(TLR5):c.2405A>G (p.Lys802Arg)	TLR5 (K802R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291213	NM_003268.6(TLR5):c.2324C>G (p.Ala775Gly)	TLR5 (A775G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293280	NM_003268.6(TLR5):c.2317A>G (p.Ser773Gly)	TLR5 (S773G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178041	NM_003268.6(TLR5):c.2263G>A (p.Val755Ile)	TLR5 (V755I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791835	NM_003268.6(TLR5):c.2254A>G (p.Arg752Gly)	TLR5 (R752G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3178040	NM_003268.6(TLR5):c.2237A>C (p.Asp746Ala)	TLR5 (D746A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462247	NM_003268.6(TLR5):c.2204T>C (p.Val735Ala)	TLR5 (V735A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034673	NM_003268.6(TLR5):c.2160T>A (p.Ser720Arg)	TLR5 (S720R)	Single nucleotide variant (missense variant)	TLR5-related condition	GLikely benign
Select item 3178039	NM_003268.6(TLR5):c.2119G>A (p.Val707Met)	TLR5 (V707M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591920	NM_003268.6(TLR5):c.2098A>G (p.Ser700Gly)	TLR5 (S700G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330484	NM_003268.6(TLR5):c.1991G>A (p.Arg664Gln)	TLR5 (R664Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355498	NM_003268.6(TLR5):c.1960C>T (p.Leu654Phe)	TLR5 (L654F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252618	NM_003268.6(TLR5):c.1930A>T (p.Ile644Phe)	TLR5 (I644F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3039739	NM_003268.6(TLR5):c.1857T>A (p.Val619=)	TLR5	Single nucleotide variant (synonymous variant)	TLR5-related condition	GLikely benign
Select item 3178038	NM_003268.6(TLR5):c.1852G>A (p.Gly618Arg)	TLR5 (G618R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059715	NM_003268.6(TLR5):c.1846T>C (p.Phe616Leu)	TLR5 (F616L)	Single nucleotide variant (missense variant)	TLR5-related condition	GBenign
Select item 2316979	NM_003268.6(TLR5):c.1822A>G (p.Ile608Val)	TLR5 (I608V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314637	NM_003268.6(TLR5):c.1783A>C (p.Asn595His)	TLR5 (N595H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6659	NM_003268.6(TLR5):c.1775A>G (p.Asn592Ser)	TLR5 (N592S)	Single nucleotide variant (missense variant)	TLR5-related condition	GBenign
Select item 3178037	NM_003268.6(TLR5):c.1685C>T (p.Ala562Val)	TLR5 (A562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723575	NM_003268.6(TLR5):c.1661A>G (p.Asp554Gly)	TLR5 (D554G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3178036	NM_003268.6(TLR5):c.1651G>C (p.Glu551Gln)	TLR5 (E551Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723576	NM_003268.6(TLR5):c.1643C>T (p.Ala548Val)	TLR5 (A548V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2214120	NM_003268.6(TLR5):c.1582T>G (p.Leu528Val)	TLR5 (L528V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536264	NM_003268.6(TLR5):c.1536C>A (p.Asn512Lys)	TLR5 (N512K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389038	NM_003268.6(TLR5):c.1516G>T (p.Val506Phe)	TLR5 (V506F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252617	NM_003268.6(TLR5):c.1459C>A (p.Leu487Ile)	TLR5 (L487I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3178034	NM_003268.6(TLR5):c.1429C>G (p.Gln477Glu)	TLR5 (Q477E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178033	NM_003268.6(TLR5):c.1409C>T (p.Ser470Leu)	TLR5 (S470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609474	NM_003268.6(TLR5):c.1398T>G (p.Asp466Glu)	TLR5 (D466E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384881	NM_003268.6(TLR5):c.1393G>A (p.Gly465Arg)	TLR5 (G465R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780807	NM_003268.6(TLR5):c.1368T>C (p.Asn456=)	TLR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3178032	NM_003268.6(TLR5):c.1357C>G (p.Leu453Val)	TLR5 (L453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775671	NM_003268.6(TLR5):c.1332C>T (p.Leu444=)	TLR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2289786	NM_003268.6(TLR5):c.1204A>T (p.Ile402Phe)	TLR5 (I402F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6658	NM_003268.6(TLR5):c.1174C>T (p.Arg392Ter)	TLR5 (R392*)	Single nucleotide variant (nonsense)	Melioidosis, resistance to +2 more	Gprotective; risk factor
Select item 2274423	NM_003268.6(TLR5):c.1114A>T (p.Ile372Phe)	TLR5 (I372F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508231	NM_003268.6(TLR5):c.1019T>G (p.Val340Gly)	TLR5 (V340G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178031	NM_003268.6(TLR5):c.1017A>T (p.Gln339His)	TLR5 (Q339H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178030	NM_003268.6(TLR5):c.1000G>A (p.Gly334Arg)	TLR5 (G334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259272	NM_003268.6(TLR5):c.932T>C (p.Leu311Pro)	TLR5 (L311P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460413	NM_003268.6(TLR5):c.917G>A (p.Arg306Gln)	TLR5 (R306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709716	NM_003268.6(TLR5):c.867A>C (p.Ser289=)	TLR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3178044	NM_003268.6(TLR5):c.716C>T (p.Thr239Ile)	TLR5 (T239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301747	NM_003268.6(TLR5):c.610G>A (p.Ala204Thr)	TLR5 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403743	NM_003268.6(TLR5):c.571G>A (p.Glu191Lys)	TLR5 (E191K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558293	NM_003268.6(TLR5):c.484C>T (p.Leu162Phe)	TLR5 (L162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178043	NM_003268.6(TLR5):c.472C>T (p.Arg158Cys)	TLR5 (R158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639918	NM_003268.6(TLR5):c.456A>C (p.Leu152=)	TLR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775672	NM_003268.6(TLR5):c.428A>C (p.Asn143Thr)	TLR5 (N143T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709717	NM_003268.6(TLR5):c.334C>G (p.Pro112Ala)	TLR5 (P112A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3040505	NM_003268.6(TLR5):c.333T>C (p.His111=)	TLR5	Single nucleotide variant (synonymous variant)	TLR5-related condition	GLikely benign
Select item 2521660	NM_003268.6(TLR5):c.322T>C (p.Tyr108His)	TLR5 (Y108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791521	NM_003268.6(TLR5):c.245C>T (p.Thr82Ile)	TLR5 (T82I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2285524	NM_003268.6(TLR5):c.236G>C (p.Ser79Thr)	TLR5 (S79T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536231	NM_003268.6(TLR5):c.151C>G (p.Leu51Val)	TLR5 (L51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480742	NM_003268.6(TLR5):c.68C>G (p.Ser23Cys)	TLR5 (S23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178042	NM_003268.6(TLR5):c.29G>A (p.Gly10Glu)	TLR5 (G10E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527581	GRCh37/hg19 1q41(chr1:223136439-223407603)	DISP1, SUSD4 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1340509	GRCh37/hg19 1q41(chr1:223138949-223407603)x3	DISP1, SUSD4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 91