ClinVar for MedGen (Select 863159) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246406	NC_000005.9:g.(?_138356840)_(138860503_?)dup	MATR3, MZB1 +9 more	Duplication	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 3236415	NM_198282.4(STING1):c.659G>T (p.Arg220Leu)	STING1 (R101L +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	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 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 2996816	NM_198282.4(STING1):c.411+12G>T	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2995919	NM_198282.4(STING1):c.170G>T (p.Gly57Val)	STING1 (G57V)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
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 2989335	NM_198282.4(STING1):c.335C>T (p.Ala112Val)	LOC123522803, STING1 (A112V)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2987150	NM_198282.4(STING1):c.411+10_411+11del	LOC123522803, STING1	Deletion (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2983247	NM_198282.4(STING1):c.211C>T (p.Arg71Cys)	STING1 (R71C)	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)	not specified +1 more	GLikely benign
Select item 2982257	NM_198282.4(STING1):c.616T>G (p.Cys206Gly)	STING1 (C87G +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GLikely pathogenic
Select item 2982203	NM_198282.4(STING1):c.280C>T (p.Arg94Cys)	LOC123522803, STING1 (R94C)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2977709	NM_198282.4(STING1):c.276C>A (p.Pro92=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
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 2973883	NM_198282.4(STING1):c.735T>C (p.Tyr245=)	STING1	Single nucleotide variant (synonymous variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2971464	NM_198282.4(STING1):c.620G>A (p.Gly207Glu)	STING1 (G207E +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2971446	NM_198282.4(STING1):c.61_64del (p.Ala21fs)	STING1 (A21fs)	Deletion (frameshift variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2970011	NM_198282.4(STING1):c.21T>G (p.His7Gln)	STING1 (H7Q)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2911712	NM_198282.4(STING1):c.400C>T (p.Leu134=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant)	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 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 2899715	NM_198282.4(STING1):c.505C>T (p.Arg169Trp)	STING1 (R169W +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
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 2887361	NM_198282.4(STING1):c.60G>A (p.Lys20=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2883723	NM_198282.4(STING1):c.533G>A (p.Arg178Gln)	STING1 (R178Q +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy +1 more	GUncertain significance
Select item 2881547	NM_198282.4(STING1):c.568C>T (p.Leu190=)	STING1	Single nucleotide variant (synonymous variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
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 2850369	NM_198282.4(STING1):c.290C>A (p.Ala97Asp)	LOC123522803, STING1 (A97D)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
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 2842647	NM_198282.4(STING1):c.972G>A (p.Ser324=)	STING1 (R262H)	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2833661	NM_198282.4(STING1):c.759+15G>T	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2833035	NM_198282.4(STING1):c.520+11CT[2]	STING1	Microsatellite (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2831119	NM_198282.4(STING1):c.333T>A (p.Asn111Lys)	LOC123522803, STING1 (N111K)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2819028	NM_198282.4(STING1):c.428A>C (p.Glu143Ala)	STING1 (E143A +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2815089	NM_198282.4(STING1):c.70G>T (p.Val24Phe)	STING1 (V24F)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2811344	NM_198282.4(STING1):c.69G>C (p.Leu23Phe)	STING1 (L23F)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2809679	NM_198282.4(STING1):c.755A>G (p.Gln252Arg)	STING1 (Q133R +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2796963	NM_198282.4(STING1):c.42G>A (p.Arg14=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2792203	NM_198282.4(STING1):c.498A>G (p.Gly166=)	STING1	Single nucleotide variant (synonymous variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
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
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 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 2779105	NM_198282.4(STING1):c.688G>T (p.Gly230Cys)	STING1 (G111C +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2777724	NM_198282.4(STING1):c.622G>A (p.Val208Met)	STING1 (V208M +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2777601	NM_198282.4(STING1):c.695_696insGTGACCG (p.His232delinsGlnTer)	STING1	Insertion (nonsense)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2777382	NM_198282.4(STING1):c.99T>A (p.Leu33=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2764872	NM_198282.4(STING1):c.691G>A (p.Asp231Asn)	STING1 (D231N +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2751065	NM_198282.4(STING1):c.227+18C>A	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2748338	NM_198282.4(STING1):c.213C>T (p.Arg71=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2747484	NM_198282.4(STING1):c.324C>T (p.Ser108=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2747305	NM_198282.4(STING1):c.325C>T (p.Leu109Phe)	LOC123522803, STING1 (L109F)	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 2741791	NM_198282.4(STING1):c.412-18A>G	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2729634	NM_198282.4(STING1):c.658C>T (p.Arg220Cys)	STING1 (R220C +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2709732	NM_198282.4(STING1):c.40del (p.Arg14fs)	STING1 (R14fs)	Deletion (frameshift variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2708729	NM_198282.4(STING1):c.345G>T (p.Pro115=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2707519	NM_198282.4(STING1):c.376C>G (p.Leu126Val)	LOC123522803, STING1 (L126V +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2702347	NM_198282.4(STING1):c.538C>T (p.Arg180Ter)	STING1 (R61* +1 more)	Single nucleotide variant (nonsense)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2694245	NM_198282.4(STING1):c.259G>A (p.Ala87Thr)	LOC123522803, STING1 (A87T)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2584430	NM_198282.4(STING1):c.614A>G (p.Asp205Gly)	STING1 (D205G +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GLikely pathogenic
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2417117	NM_198282.4(STING1):c.411+17G>T	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2414287	NM_198282.4(STING1):c.759+19G>A	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2199410	NM_198282.4(STING1):c.411+12G>A	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2189484	NM_198282.4(STING1):c.520+15C>T	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
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 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 2165987	NM_198282.4(STING1):c.128C>T (p.Thr43Ile)	STING1 (T43I)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2163379	NM_198282.4(STING1):c.95C>T (p.Thr32Ile)	STING1 (T32I)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2161518	NM_198282.4(STING1):c.125A>C (p.His42Pro)	STING1 (H42P)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
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 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 2151239	NM_198282.4(STING1):c.411+10del	LOC123522803, STING1	Deletion (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2146661	NM_198282.4(STING1):c.520+19C>T	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2142949	NM_198282.4(STING1):c.133C>T (p.Arg45Trp)	STING1 (R45W)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy +1 more	GUncertain significance
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 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 2125650	NM_198282.4(STING1):c.524T>C (p.Leu175Pro)	STING1 (L175P +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2112000	NM_198282.4(STING1):c.1077A>G (p.Gln359=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
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 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 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 2072020	NM_198282.4(STING1):c.395T>A (p.Ile132Asn)	LOC123522803, STING1 (I132N +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2067184	NM_198282.4(STING1):c.276C>T (p.Pro92=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GBenign
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 2065150	NM_198282.4(STING1):c.216C>T (p.His72=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING1-related disorder +1 more	GLikely benign
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 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 2050377	NM_198282.4(STING1):c.65C>A (p.Ala22Asp)	STING1 (A22D)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2042038	NM_198282.4(STING1):c.389T>C (p.Leu130Pro)	LOC123522803, STING1 (L11P +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2038394	NM_198282.4(STING1):c.1065C>A (p.Ser355=)	STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2035717	NM_198282.4(STING1):c.330A>T (p.Pro110=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
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 2031714	NM_198282.4(STING1):c.364G>A (p.Ala122Thr)	LOC123522803, STING1 (A122T +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2031595	NM_198282.4(STING1):c.412-7T>C	STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2031493	NM_198282.4(STING1):c.551A>T (p.Gln184Leu)	STING1 (Q65L +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2031357	NM_198282.4(STING1):c.5C>T (p.Pro2Leu)	STING1 (P2L)	Single nucleotide variant (missense 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 2024354	NM_198282.4(STING1):c.102G>C (p.Trp34Cys)	STING1 (W34C)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance

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