STING1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 349

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147882	GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3	CXXC5, CXXC5-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 58117	GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3	DNAJC18, ECSCR +47 more	Copy number gain	See cases	GPathogenic
Select item 2655733	NM_198282.4(STING1):c.4_5del	STING1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 750205	NM_198282.4(STING1):c.1139G>A (p.Ter380=)	STING1	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 945312	NM_198282.4(STING1):c.1129G>T (p.Asp377Tyr)	STING1 (D258Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1040049	NM_198282.4(STING1):c.1128G>A (p.Thr376=)	STING1	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 853954	NM_198282.4(STING1):c.1127C>T (p.Thr376Met)	STING1 (T257M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 565663	NM_198282.4(STING1):c.1127C>G (p.Thr376Arg)	STING1 (T376R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1680234	NM_198282.4(STING1):c.1124G>A (p.Arg375His)	STING1 (R256H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy +2 more	GConflicting classifications of pathogenicity
Select item 719130	NM_198282.4(STING1):c.1124G>T (p.Arg375Leu)	STING1 (R375L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GBenign/Likely benign
Select item 579652	NM_198282.4(STING1):c.1123C>T (p.Arg375Cys)	STING1 (R375C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 636338	NM_198282.4(STING1):c.1111C>A (p.Pro371Thr)	STING1 (P371T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1680235	NM_198282.4(STING1):c.1110G>A (p.Lys370=)	STING1	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1694174	NM_198282.4(STING1):c.1104G>A (p.Met368Ile)	STING1 (M249I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1904199	NM_198282.4(STING1):c.1084G>A (p.Glu362Lys)	STING1 (E362K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2174548	NM_198282.4(STING1):c.1083T>C (p.Pro361=)	STING1	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2112000	NM_198282.4(STING1):c.1077A>G (p.Gln359=)	STING1	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 641434	NM_198282.4(STING1):c.1076A>G (p.Gln359Arg)	STING1 (Q240R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1114315	NM_198282.4(STING1):c.1068G>A (p.Thr356=)	STING1	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2038394	NM_198282.4(STING1):c.1065C>A (p.Ser355=)	STING1	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2894856	NM_198282.4(STING1):c.1061C>A (p.Thr354Asn)	STING1 (T354N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2030019	NM_198282.4(STING1):c.1061C>T (p.Thr354Ile)	STING1 (T235I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1053252	NM_198282.4(STING1):c.1054C>T (p.Pro352Ser)	STING1 (P233S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1303166	NM_198282.4(STING1):c.1049C>T (p.Ala350Val)	STING1 (A231V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 3020512	NM_198282.4(STING1):c.1028T>C (p.Val343Ala)	STING1 (W281R +2 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2173233	NM_198282.4(STING1):c.1027G>A (p.Val343Met)	STING1 (V224M +1 more)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2063279	NM_198282.4(STING1):c.1025C>A (p.Thr342Asn)	STING1 (T223N +2 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 639028	NM_198282.4(STING1):c.1025del (p.Thr342fs)	STING1 (T223fs +2 more)	Deletion (frameshift variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1041360	NM_198282.4(STING1):c.1021G>C (p.Val341Leu)	STING1 (V222L +2 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 964331	NM_198282.4(STING1):c.1015G>A (p.Glu339Lys)	STING1 (E220K +1 more)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1694173	NM_198282.4(STING1):c.1013del (p.Lys338fs)	STING1 (K219fs +2 more)	Deletion (frameshift variant)	STING-associated vasculopathy with onset in infancy +1 more	GUncertain significance
Select item 1680236	NM_198282.4(STING1):c.1006G>A (p.Glu336Lys)	STING1 (E217K +1 more)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 857410	NM_198282.4(STING1):c.1003C>A (p.Gln335Lys)	STING1 (Q335K +1 more)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 840257	NM_198282.4(STING1):c.1001G>A (p.Arg334Gln)	STING1 (R215Q +2 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 657875	NM_198282.4(STING1):c.1000C>T (p.Arg334Trp)	STING1 (R215W +1 more)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2156854	NM_198282.4(STING1):c.996C>T (p.His332=)	STING1 (T270I)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2000042	NM_198282.4(STING1):c.993G>A (p.Arg331=)	STING1 (G269D)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 955778	NM_198282.4(STING1):c.992G>A (p.Arg331Gln)	STING1 (R331Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2977127	NM_198282.4(STING1):c.991C>T (p.Arg331Trp)	STING1 (R331W +1 more)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2100868	NM_198282.4(STING1):c.980A>C (p.Gln327Pro)	STING1 (Q327P +1 more)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 570027	NM_198282.4(STING1):c.979C>A (p.Gln327Lys)	STING1 (Q327K +1 more)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 739531	NM_198282.4(STING1):c.975G>A (p.Leu325=)	STING1 (C263Y)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2842647	NM_198282.4(STING1):c.972G>A (p.Ser324=)	STING1 (R262H)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1141345	NM_198282.4(STING1):c.971C>T (p.Ser324Leu)	STING1 (R262C +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GLikely benign
Select item 2004434	NM_198282.4(STING1):c.966C>T (p.Ser322=)	STING1 (A260V)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2065314	NM_198282.4(STING1):c.952G>C (p.Ala318Pro)	STING1 (A199P +1 more)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 581686	NM_198282.4(STING1):c.952G>T (p.Ala318Ser)	STING1 (A318S +1 more)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2033001	NM_198282.4(STING1):c.947-3C>T	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1950526	NM_198282.4(STING1):c.947-9C>T	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1680237	NM_198282.4(STING1):c.947-18C>G	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GBenign
Select item 1680238	NM_198282.4(STING1):c.947-19C>T	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2062102	NM_198282.4(STING1):c.947-20C>G	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2688481	NM_198282.4(STING1):c.947-86G>A	STING1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2993496	NM_198282.4(STING1):c.946+12_946+27del	STING1	Deletion (splice donor variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2072806	NM_198282.4(STING1):c.946+19G>T	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1680239	NM_198282.4(STING1):c.946+12G>A	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2134492	NM_198282.4(STING1):c.946+6G>C	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1981904	NM_198282.4(STING1):c.946+6G>A	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1680240	NM_198282.4(STING1):c.946+6G>T	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy +1 more	GConflicting classifications of pathogenicity
Select item 2157445	NM_198282.4(STING1):c.946+5G>A	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2022270	NM_198282.4(STING1):c.946+5G>T	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 969762	NM_198282.4(STING1):c.946+1G>T	STING1	Single nucleotide variant (splice donor variant +1 more)	STING-associated vasculopathy with onset in infancy +1 more	GUncertain significance
Select item 475211	NM_198282.4(STING1):c.937G>A (p.Ala313Thr)	STING1 (A313T +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy +1 more	GBenign
Select item 2141552	NM_198282.4(STING1):c.932T>C (p.Leu311Pro)	STING1 (L192P +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2744036	NM_198282.4(STING1):c.931C>T (p.Leu311Phe)	STING1 (L192F +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 541980	NM_198282.4(STING1):c.929G>A (p.Arg310His)	STING1 (R310H +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1694190	NM_198282.4(STING1):c.928C>T (p.Arg310Cys)	STING1 (R191C +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 2788532	NM_198282.4(STING1):c.908C>A (p.Pro303His)	STING1 (P184H +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy +1 more	GUncertain significance
Select item 1147733	NM_198282.4(STING1):c.906C>T (p.Ala302=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1003690	NM_198282.4(STING1):c.885T>A (p.Leu295=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1091631	NM_198282.4(STING1):c.879G>A (p.Arg293=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1166567	NM_198282.4(STING1):c.878G>A (p.Arg293Gln)	STING1 (R174Q +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy +3 more	GBenign
Select item 1694189	NM_198282.4(STING1):c.877C>T (p.Arg293Trp)	STING1 (R174W +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3171212	NM_198282.4(STING1):c.863C>T (p.Ala288Val)	STING1 (A169V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2909869	NM_198282.4(STING1):c.862G>A (p.Ala288Thr)	STING1 (A288T +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2779186	NM_198282.4(STING1):c.856G>A (p.Glu286Lys)	STING1 (E167K +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 3019646	NM_198282.4(STING1):c.851G>A (p.Arg284Lys)	STING1 (R165K +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2022271	NM_198282.4(STING1):c.851G>C (p.Arg284Thr)	STING1 (R284T +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GPathogenic
Select item 2096667	NM_198282.4(STING1):c.847G>A (p.Asp283Asn)	STING1 (D164N +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1132240	NM_198282.4(STING1):c.846G>A (p.Glu282=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 966490	NM_198282.4(STING1):c.845A>G (p.Glu282Gly)	STING1 (E163G +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1908767	NM_198282.4(STING1):c.844G>A (p.Glu282Lys)	STING1 (E282K +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 568703	NM_198282.4(STING1):c.842G>A (p.Arg281Gln)	STING1 (R281Q +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy +1 more	GPathogenic/Likely pathogenic
Select item 839824	NM_198282.4(STING1):c.841C>T (p.Arg281Trp)	STING1 (R162W +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2875929	NM_198282.4(STING1):c.831T>C (p.Ala277=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2911635	NM_198282.4(STING1):c.826C>G (p.Gln276Glu)	STING1 (Q276E +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2982442	NM_198282.4(STING1):c.816A>G (p.Ser272=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy +1 more	GLikely benign
Select item 2847476	NM_198282.4(STING1):c.808G>A (p.Ala270Thr)	STING1 (A151T +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1680241	NM_198282.4(STING1):c.804G>C (p.Leu268Phe)	STING1 (L149F +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1058986	NM_198282.4(STING1):c.790C>T (p.Pro264Ser)	STING1 (P145S +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1680242	NM_198282.4(STING1):c.785C>G (p.Ala262Gly)	STING1 (A143G +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 937596	NM_198282.4(STING1):c.784G>A (p.Ala262Thr)	STING1 (A143T +1 more)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy +1 more	GUncertain significance
Select item 1680243	NM_198282.4(STING1):c.783C>T (p.Tyr261=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2792039	NM_198282.4(STING1):c.777G>A (p.Leu259=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance

<< First< Prev

Page of 4