7097[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 103

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 59482	GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1	DCHS2, FGA +38 more	Copy number loss	See cases	GPathogenic
Select item 1050279	NC_000004.12:g.153681414_153681419dup	TLR2	Duplication	not provided	GUncertain significance
Select item 3178009	NM_001318789.2(TLR2):c.22G>T (p.Val8Leu)	TLR2 (V8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536995	NM_001318789.2(TLR2):c.53C>A (p.Ser18Tyr)	TLR2 (S18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546565	NM_001318789.2(TLR2):c.71A>G (p.Asn24Ser)	TLR2 (N24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041199	NM_001318789.2(TLR2):c.77C>T (p.Ala26Val)	TLR2 (A26V)	Single nucleotide variant (missense variant)	TLR2-related disorder	GLikely benign
Select item 786049	NM_001318789.2(TLR2):c.114C>A (p.Gly38=)	TLR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1049682	NM_001318789.2(TLR2):c.119C>T (p.Ser40Leu)	TLR2 (S40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041175	NM_001318789.2(TLR2):c.195C>T (p.Thr65=)	TLR2	Single nucleotide variant (synonymous variant)	TLR2-related disorder	GLikely benign
Select item 3046109	NM_001318789.2(TLR2):c.242T>C (p.Leu81Pro)	TLR2 (L81P)	Single nucleotide variant (missense variant)	TLR2-related disorder	GLikely benign
Select item 111268	NM_001318789.2(TLR2):c.265A>G (p.Asn89Asp)	TLR2 (N89D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 716824	NM_001318789.2(TLR2):c.271A>G (p.Ile91Val)	TLR2 (I91V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2431398	NM_001318789.2(TLR2):c.301del (p.Ser101fs)	TLR2 (S101fs)	Deletion (frameshift variant)	Colorectal cancer	GUncertain significance
Select item 3326403	NM_001318789.2(TLR2):c.380C>T (p.Thr127Ile)	TLR2 (T127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178010	NM_001318789.2(TLR2):c.388A>G (p.Asn130Asp)	TLR2 (N130D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178011	NM_001318789.2(TLR2):c.430C>T (p.Leu144Phe)	TLR2 (L144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300551	NM_001318789.2(TLR2):c.437C>G (p.Ser146Cys)	TLR2 (S146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719093	NM_001318789.2(TLR2):c.489T>A (p.Thr163=)	TLR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609372	NM_001318789.2(TLR2):c.505G>T (p.Asp169Tyr)	TLR2 (D169Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 827600	NM_001318789.2(TLR2):c.582G>C (p.Leu194Phe)	TLR2 (L194F)	Single nucleotide variant (missense variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 3060911	NM_001318789.2(TLR2):c.597T>C (p.Asn199=)	TLR2	Single nucleotide variant (synonymous variant)	COVID-19–associated multisystem inflammatory syndrome in adults +1 more	GConflicting classifications of pathogenicity
Select item 3178012	NM_001318789.2(TLR2):c.626A>T (p.Gln209Leu)	TLR2 (Q209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740672	NM_001318789.2(TLR2):c.639G>C (p.Leu213=)	TLR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710730	NM_001318789.2(TLR2):c.650T>C (p.Phe217Ser)	TLR2 (F217S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2341446	NM_001318789.2(TLR2):c.652G>A (p.Val218Ile)	TLR2 (V218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330520	NM_001318789.2(TLR2):c.692A>G (p.Asp231Gly)	TLR2 (D231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655137	NM_001318789.2(TLR2):c.693T>C (p.Asp231=)	TLR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2493890	NM_001318789.2(TLR2):c.725T>C (p.Leu242Pro)	TLR2 (L242P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358815	NM_001318789.2(TLR2):c.805G>C (p.Val269Leu)	TLR2 (V269L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522207	NM_001318789.2(TLR2):c.865C>G (p.Leu289Val)	TLR2 (L289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178004	NM_001318789.2(TLR2):c.1006G>A (p.Glu336Lys)	TLR2 (E336K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233268	NM_001318789.2(TLR2):c.1058G>A (p.Cys353Tyr)	TLR2 (C353Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326399	NM_001318789.2(TLR2):c.1163C>G (p.Ser388Cys)	TLR2 (S388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035354	NM_001318789.2(TLR2):c.1200A>G (p.Ala400=)	TLR2	Single nucleotide variant (synonymous variant)	TLR2-related disorder	GBenign
Select item 750573	NM_001318789.2(TLR2):c.1221G>A (p.Glu407=)	TLR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240735	NM_001318789.2(TLR2):c.1226T>C (p.Leu409Ser)	TLR2 (L409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053334	NM_001318789.2(TLR2):c.1232C>T (p.Thr411Ile)	TLR2 (T411I)	Single nucleotide variant (missense variant)	TLR2-related disorder	GBenign
Select item 2330709	NM_001318789.2(TLR2):c.1252A>G (p.Ile418Val)	TLR2 (I418V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411194	NM_001318789.2(TLR2):c.1270A>T (p.Ser424Cys)	TLR2 (S424C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992555	NM_001318789.2(TLR2):c.1340G>A (p.Arg447Gln)	TLR2 (R447Q)	Single nucleotide variant (missense variant)	Leprosy, susceptibility to, 3 +2 more	GUncertain significance
Select item 3058962	NM_001318789.2(TLR2):c.1350T>C (p.Ser450=)	TLR2	Single nucleotide variant (synonymous variant)	COVID-19–associated multisystem inflammatory syndrome in adults +1 more	GConflicting classifications of pathogenicity
Select item 3044153	NM_001318789.2(TLR2):c.1368C>A (p.Pro456=)	TLR2	Single nucleotide variant (synonymous variant)	TLR2-related disorder	GLikely benign
Select item 3178005	NM_001318789.2(TLR2):c.1471A>G (p.Thr491Ala)	TLR2 (T491A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776023	NM_001318789.2(TLR2):c.1626C>G (p.Leu542=)	TLR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3037165	NM_001318789.2(TLR2):c.1689G>A (p.Leu563=)	TLR2	Single nucleotide variant (synonymous variant)	TLR2-related disorder	GBenign
Select item 723333	NM_001318789.2(TLR2):c.1712G>A (p.Arg571His)	TLR2 (R571H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724508	NM_001318789.2(TLR2):c.1722G>A (p.Gln574=)	TLR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599920	NM_001318789.2(TLR2):c.1735C>T (p.Arg579Cys)	TLR2 (R579C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715599	NM_001318789.2(TLR2):c.1736G>A (p.Arg579His)	TLR2 (R579H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3326400	NM_001318789.2(TLR2):c.1748C>T (p.Ser583Leu)	TLR2 (S583L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233130	NM_001318789.2(TLR2):c.1814C>T (p.Thr605Met)	TLR2 (T605M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2487429	NM_001318789.2(TLR2):c.1831C>T (p.Arg611Cys)	TLR2 (R611C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243470	NM_001318789.2(TLR2):c.1889A>T (p.Lys630Met)	TLR2 (K630M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 111267	NM_001318789.2(TLR2):c.1906A>C (p.Ser636Arg)	TLR2 (S636R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3178006	NM_001318789.2(TLR2):c.1912A>C (p.Asn638His)	TLR2 (N638H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247073	NM_001318789.2(TLR2):c.1945G>A (p.Glu649Lys)	TLR2 (E649K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178007	NM_001318789.2(TLR2):c.1948C>T (p.Arg650Trp)	TLR2 (R650W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178008	NM_001318789.2(TLR2):c.1982A>G (p.Gln661Arg)	TLR2 (Q661R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6663	NM_001318789.2(TLR2):c.2029C>T (p.Arg677Trp)	TLR2 (R677W)	Single nucleotide variant (missense variant)	Leprosy, susceptibility to, 3	Grisk factor
Select item 2387914	NM_001318789.2(TLR2):c.2088C>A (p.Ser696Arg)	TLR2 (S696R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037327	NM_001318789.2(TLR2):c.2121T>C (p.Phe707=)	TLR2	Single nucleotide variant (synonymous variant)	TLR2-related disorder	GBenign
Select item 2597140	NM_001318789.2(TLR2):c.2162A>G (p.His721Arg)	TLR2 (H721R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473606	NM_001318789.2(TLR2):c.2180A>T (p.Glu727Val)	TLR2 (E727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041566	NM_001318789.2(TLR2):c.2186A>G (p.Asn729Ser)	TLR2 (N729S)	Single nucleotide variant (missense variant)	TLR2-related disorder	GBenign
Select item 2288600	NM_001318789.2(TLR2):c.2212G>A (p.Glu738Lys)	TLR2 (E738K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326401	NM_001318789.2(TLR2):c.2218A>C (p.Ile740Leu)	TLR2 (I740L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265749	NM_001318789.2(TLR2):c.2218A>G (p.Ile740Val)	TLR2 (I740V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 40869	NM_001318789.2(TLR2):c.2258G>A (p.Arg753Gln)	TLR2 (R753Q)	Single nucleotide variant (missense variant)	Mycobacterium tuberculosis, susceptibility to	Grisk factor
Select item 2328274	NM_001318789.2(TLR2):c.2272A>T (p.Thr758Ser)	TLR2 (T758S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049235	NM_001318789.2(TLR2):c.2296A>G (p.Met766Val)	TLR2 (M766V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2547815	NM_001318789.2(TLR2):c.2338G>T (p.Ala780Ser)	TLR2 (A780S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326402	NM_001318789.2(TLR2):c.2342C>T (p.Ala781Val)	TLR2 (A781V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250336	NM_173662.4(RNF175):c.944T>C (p.Ile315Thr)	RNF175, TLR2 (I315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980699	GRCh37/hg19 4q31.3(chr4:154306552-154914180)x3	TLR2, MND1 +3 more	Copy number gain	not provided	GLikely benign
Select item 814616	GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1	PLRG1, CTSO +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 684516	Single allele	DCHS2, MND1 +5 more	Duplication	not provided	Gnot provided
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442937	GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1	ARFIP1, ASIC5 +36 more	Copy number loss	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 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	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2