ClinVar for Gene (Select 51284) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372043	NM_016562.4(TLR7):c.1972T>A (p.Ser658Thr)	TLR7 (S658T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346277	NM_016562.4(TLR7):c.1837A>T (p.Ser613Cys)	TLR7 (S613C)	Single nucleotide variant (missense variant)	TLR7-related disorder	GUncertain significance
Select item 3326430	NM_016562.4(TLR7):c.871G>C (p.Glu291Gln)	TLR7 (E291Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326429	NM_016562.4(TLR7):c.2701G>A (p.Asp901Asn)	TLR7 (D901N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326428	NM_016562.4(TLR7):c.1093G>A (p.Ala365Thr)	TLR7 (A365T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257333	NM_016562.4(TLR7):c.1242C>T (p.Leu414=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246785	NC_000023.10:g.(?_12885698)_(13787227_?)dup	ATXN3L, EGFL6 +8 more	Duplication	not provided	GUncertain significance
Select item 3246773	NC_000023.10:g.(?_11308472)_(13765072_?)dup	AMELX, ARHGAP6 +13 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239411	NM_016562.4(TLR7):c.2424G>A (p.Leu808=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3178057	NM_016562.4(TLR7):c.3002T>A (p.Leu1001His)	TLR7 (L1001H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2997883	NM_016562.4(TLR7):c.3126T>A (p.Ser1042Arg)	TLR7 (S1042R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988500	NM_016562.4(TLR7):c.2520G>T (p.Leu840=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977220	NM_016562.4(TLR7):c.569A>T (p.Tyr190Phe)	TLR7 (Y190F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973612	NM_016562.4(TLR7):c.948C>G (p.Leu316=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962184	NM_016562.4(TLR7):c.2996A>G (p.Lys999Arg)	TLR7 (K999R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909837	NM_016562.4(TLR7):c.2535T>C (p.Leu845=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907652	NM_016562.4(TLR7):c.2859A>G (p.Thr953=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902818	NM_016562.4(TLR7):c.144C>T (p.Ile48=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901829	NM_016562.4(TLR7):c.3143C>T (p.Thr1048Met)	TLR7 (T1048M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900609	NM_016562.4(TLR7):c.1767A>C (p.Leu589=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895909	NM_016562.4(TLR7):c.131A>G (p.Lys44Arg)	TLR7 (K44R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2895724	NM_016562.4(TLR7):c.1197T>C (p.Leu399=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895365	NM_016562.4(TLR7):c.1162T>C (p.Phe388Leu)	TLR7 (F388L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895108	NM_016562.4(TLR7):c.337A>T (p.Ile113Phe)	TLR7 (I113F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893131	NM_016562.4(TLR7):c.2351G>A (p.Arg784Gln)	TLR7 (R784Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886023	NM_016562.4(TLR7):c.249G>A (p.Ala83=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885892	NM_016562.4(TLR7):c.667T>C (p.Leu223=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884961	NM_016562.4(TLR7):c.711T>A (p.Ile237=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881945	NM_016562.4(TLR7):c.397T>C (p.Tyr133His)	TLR7 (Y133H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881723	NM_016562.4(TLR7):c.1913G>A (p.Gly638Asp)	TLR7 (G638D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880543	NM_016562.4(TLR7):c.83G>T (p.Arg28Ile)	TLR7 (R28I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878586	NM_016562.4(TLR7):c.3057G>T (p.Pro1019=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878220	NM_016562.4(TLR7):c.2784C>T (p.Leu928=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874170	NM_016562.4(TLR7):c.585A>G (p.Ile195Met)	TLR7 (I195M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872719	NM_016562.4(TLR7):c.84A>G (p.Arg28=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872363	NM_016562.4(TLR7):c.3144G>A (p.Thr1048=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872255	NM_016562.4(TLR7):c.1105C>T (p.Leu369=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871830	NM_016562.4(TLR7):c.1669C>T (p.Leu557Phe)	TLR7 (L557F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870976	NM_016562.4(TLR7):c.3056C>T (p.Pro1019Leu)	TLR7 (P1019L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870699	NM_016562.4(TLR7):c.1984C>T (p.Leu662=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868741	NM_016562.4(TLR7):c.2650C>T (p.Leu884=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868502	NM_016562.4(TLR7):c.598T>C (p.Phe200Leu)	TLR7 (F200L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865502	NM_016562.4(TLR7):c.2170A>C (p.Ser724Arg)	TLR7 (S724R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857899	NM_016562.4(TLR7):c.1944T>G (p.Asn648Lys)	TLR7 (N648K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854872	NM_016562.4(TLR7):c.1168C>T (p.Leu390Phe)	TLR7 (L390F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854524	NM_016562.4(TLR7):c.1266A>C (p.Arg422Ser)	TLR7 (R422S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852659	NM_016562.4(TLR7):c.2646G>C (p.Gln882His)	TLR7 (Q882H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852094	NM_016562.4(TLR7):c.816G>T (p.Pro272=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846089	NM_016562.4(TLR7):c.2538C>T (p.Ser846=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846043	NM_016562.4(TLR7):c.1334_1336del (p.Cys445del)	TLR7 (C445del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2842644	NM_016562.4(TLR7):c.593A>G (p.Asp198Gly)	TLR7 (D198G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839636	NM_016562.4(TLR7):c.303A>G (p.Val101=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838795	NM_016562.4(TLR7):c.2153T>G (p.Leu718Ter)	TLR7 (L718*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2832710	NM_016562.4(TLR7):c.268C>T (p.His90Tyr)	TLR7 (H90Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822595	NM_016562.4(TLR7):c.800C>A (p.Pro267Gln)	TLR7 (P267Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819909	NM_016562.4(TLR7):c.1524C>T (p.Val508=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819378	NM_016562.4(TLR7):c.1303C>T (p.Pro435Ser)	TLR7 (P435S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809175	NM_016562.4(TLR7):c.997G>C (p.Ala333Pro)	TLR7 (A333P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805146	NM_016562.4(TLR7):c.862G>A (p.Ala288Thr)	TLR7 (A288T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803678	NM_016562.4(TLR7):c.1127G>A (p.Arg376Gln)	TLR7 (R376Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802395	NM_016562.4(TLR7):c.222T>G (p.Ile74Met)	TLR7 (I74M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802390	NM_016562.4(TLR7):c.2549C>T (p.Ser850Phe)	TLR7 (S850F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801156	NM_016562.4(TLR7):c.483T>C (p.Phe161=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796956	NM_016562.4(TLR7):c.2737G>A (p.Val913Met)	TLR7 (V913M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796884	NM_016562.4(TLR7):c.1017C>T (p.Leu339=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794257	NM_016562.4(TLR7):c.1479G>C (p.Lys493Asn)	TLR7 (K493N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794221	NM_016562.4(TLR7):c.108T>C (p.Cys36=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791714	NM_016562.4(TLR7):c.682A>G (p.Thr228Ala)	TLR7 (T228A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789362	NM_016562.4(TLR7):c.563C>G (p.Pro188Arg)	TLR7 (P188R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788687	NM_016562.4(TLR7):c.3057G>A (p.Pro1019=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783321	NM_016562.4(TLR7):c.2199T>C (p.Asn733=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781337	NM_016562.4(TLR7):c.2286C>A (p.Ile762=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780643	NM_016562.4(TLR7):c.1818T>C (p.Asn606=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779074	NM_016562.4(TLR7):c.1070G>A (p.Arg357His)	TLR7 (R357H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777366	NM_016562.4(TLR7):c.2105A>G (p.Glu702Gly)	TLR7 (E702G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776680	NM_016562.4(TLR7):c.2695A>G (p.Thr899Ala)	TLR7 (T899A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771646	NM_016562.4(TLR7):c.352A>G (p.Ile118Val)	TLR7 (I118V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770736	NM_016562.4(TLR7):c.522A>G (p.Ile174Met)	TLR7 (I174M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763017	NM_016562.4(TLR7):c.995A>G (p.Asp332Gly)	TLR7 (D332G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761554	NM_016562.4(TLR7):c.3077G>A (p.Trp1026Ter)	TLR7 (W1026*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2757869	NM_016562.4(TLR7):c.332T>C (p.Met111Thr)	TLR7 (M111T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754078	NM_016562.4(TLR7):c.768A>G (p.Leu256=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748247	NM_016562.4(TLR7):c.2453G>T (p.Gly818Val)	TLR7 (G818V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747417	NM_016562.4(TLR7):c.1139_1140del (p.Tyr380fs)	TLR7 (Y380fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2742354	NM_016562.4(TLR7):c.1325T>C (p.Val442Ala)	TLR7 (V442A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742352	NM_016562.4(TLR7):c.294C>T (p.Cys98=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2730337	NM_016562.4(TLR7):c.2291A>T (p.Lys764Met)	TLR7 (K764M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718393	NM_016562.4(TLR7):c.2181T>C (p.Asn727=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712326	NM_016562.4(TLR7):c.1542G>A (p.Gln514=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708034	NM_016562.4(TLR7):c.3119C>T (p.Ala1040Val)	TLR7 (A1040V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707454	NM_016562.4(TLR7):c.3012G>A (p.Arg1004=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706722	NM_016562.4(TLR7):c.2112G>A (p.Leu704=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706334	NM_016562.4(TLR7):c.2148G>A (p.Glu716=)	TLR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696197	NM_016562.4(TLR7):c.1576G>A (p.Gly526Arg)	TLR7 (G526R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696196	NM_016562.4(TLR7):c.917C>A (p.Pro306His)	TLR7 (P306H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic

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