ClinVar for MedGen (Select 854497) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064951	NM_001282225.2(ADA2):c.1447A>C (p.Ser483Arg)	ADA2 (S242R +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GLikely pathogenic
Select item 3064114	NM_001282225.2(ADA2):c.611G>A (p.Trp204Ter)	ADA2 (W162* +2 more)	Single nucleotide variant (nonsense)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 3022632	NM_001282225.2(ADA2):c.973-15C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 3020076	NM_001282225.2(ADA2):c.542+7_542+12del	ADA2	Microsatellite (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 3002194	NM_001282225.2(ADA2):c.669G>A (p.Val223=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2982423	NM_001282225.2(ADA2):c.1148G>A (p.Gly383Asp)	ADA2 (G341D +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 2977366	NM_001282225.2(ADA2):c.323-2A>G	ADA2	Single nucleotide variant (splice acceptor variant)	Vasculitis due to ADA2 deficiency	GLikely pathogenic
Select item 2960800	NM_001282225.2(ADA2):c.882-13G>A	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2958253	NM_001282225.2(ADA2):c.191T>G (p.Met64Arg)	ADA2 (M64R +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2916060	NM_001282225.2(ADA2):c.1317C>T (p.Ser439=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2910474	NM_001282225.2(ADA2):c.753+2T>A	ADA2	Single nucleotide variant (splice donor variant)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 2904982	NM_001282225.2(ADA2):c.1004A>C (p.His335Pro)	ADA2 (H293P +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2899922	NM_001282225.2(ADA2):c.713A>G (p.Asp238Gly)	ADA2 (D118G +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2897687	NM_001282225.2(ADA2):c.323-19A>G	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2897624	NM_001282225.2(ADA2):c.1218A>G (p.Glu406=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2892125	NM_001282225.2(ADA2):c.1303_1319del (p.His434_Pro435insTer)	ADA2	Deletion (nonsense)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 2891667	NM_001282225.2(ADA2):c.195G>A (p.Thr65=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2889771	NM_001282225.2(ADA2):c.660C>A (p.Tyr220Ter)	ADA2 (Y220* +2 more)	Single nucleotide variant (nonsense)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 2887098	NM_001282225.2(ADA2):c.753+20C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2886852	NM_001282225.2(ADA2):c.973G>A (p.Val325Met)	ADA2 (V84M +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2884136	NM_001282225.2(ADA2):c.414C>T (p.Phe138=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2883501	NM_001282225.2(ADA2):c.270G>A (p.Lys90=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2880587	NM_001282225.2(ADA2):c.1081+20G>A	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2880113	NM_001282225.2(ADA2):c.882-17C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2863455	NM_001282225.2(ADA2):c.1371G>A (p.Glu457=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2856674	NM_001282225.2(ADA2):c.156G>A (p.Leu52=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2853695	NM_001282225.2(ADA2):c.246C>A (p.Pro82=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2850497	NM_001282225.2(ADA2):c.322+2T>A	ADA2	Single nucleotide variant (splice donor variant +1 more)	Vasculitis due to ADA2 deficiency	GLikely pathogenic
Select item 2844051	NM_001282225.2(ADA2):c.1081+12G>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2828961	NM_001282225.2(ADA2):c.754-20T>C	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2819497	NM_001282225.2(ADA2):c.1240-15C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2816786	NM_001282225.2(ADA2):c.322+9T>A	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2812005	NM_001282225.2(ADA2):c.322+15G>A	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2802119	NM_001282225.2(ADA2):c.1443-6C>G	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2780451	NM_001282225.2(ADA2):c.39C>A (p.Cys13Ter)	ADA2 (C13*)	Single nucleotide variant (nonsense +1 more)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 2759446	NM_001282225.2(ADA2):c.1081+18G>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2745742	NM_001282225.2(ADA2):c.951G>A (p.Thr317=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2741476	NM_001282225.2(ADA2):c.323-11T>C	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2719743	NM_001282225.2(ADA2):c.882-18T>G	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2707911	NM_001282225.2(ADA2):c.365A>T (p.Asp122Val)	ADA2 (D80V +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2707488	NM_001282225.2(ADA2):c.537T>C (p.Asp179=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2703843	NM_001282225.2(ADA2):c.882-13G>C	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2652841	NM_001282225.2(ADA2):c.87C>T (p.Ser29=)	ADA2	Single nucleotide variant (synonymous variant +2 more)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 2500842	NM_001282225.2(ADA2):c.-47+2T>C	ADA2	Single nucleotide variant (intron variant +1 more)	Vasculitis due to ADA2 deficiency	GLikely pathogenic
Select item 2500096	NM_001282225.2(ADA2):c.570C>A (p.Thr190=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 2438857	NM_001282225.2(ADA2):c.342T>G (p.His114Gln)	ADA2 (H114Q +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 2428201	NM_001282225.2(ADA2):c.990T>C (p.Thr330=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2424099	NC_000022.10:g.(?_17662373)_(17672720_?)dup	ADA2	Duplication	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2424098	NC_000022.10:g.(?_17684433)_(17690567_?)dup	ADA2	Duplication	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2424097	NC_000022.10:g.(?_17669209)_(17672720_?)del	ADA2	Deletion	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Immunodeficiency 51 +1 more	GPathogenic
Select item 2419957	NM_001282225.2(ADA2):c.1313_1314delinsAG (p.Ile438Lys)	ADA2 (I197K +3 more)	Indel (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2418789	NM_001282225.2(ADA2):c.27G>T (p.Arg9=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2418552	NM_001282225.2(ADA2):c.727A>G (p.Met243Val)	ADA2 (M123V +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2418001	NM_001282225.2(ADA2):c.1266G>A (p.Arg422=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2417153	NM_001282225.2(ADA2):c.660C>G (p.Tyr220Ter)	ADA2 (Y100* +2 more)	Single nucleotide variant (nonsense)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 2202176	NM_001282225.2(ADA2):c.961G>A (p.Gly321Arg)	ADA2 (G279R +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2201252	NM_001282225.2(ADA2):c.816A>G (p.Val272=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2200463	NM_001282225.2(ADA2):c.972+9T>C	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GBenign
Select item 2200203	NM_001282225.2(ADA2):c.640A>G (p.Ile214Val)	ADA2 (I172V +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2194694	NM_001282225.2(ADA2):c.1252G>T (p.Val418Leu)	ADA2 (V376L +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2193401	NM_001282225.2(ADA2):c.457C>T (p.Pro153Ser)	ADA2 (P153S +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2190681	NM_001282225.2(ADA2):c.329C>T (p.Ala110Val)	ADA2 (A110V +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2188358	NM_001282225.2(ADA2):c.1442+3G>A	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2187607	NM_001282225.2(ADA2):c.542+4A>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2183797	NM_001282225.2(ADA2):c.298A>T (p.Asn100Tyr)	ADA2 (N100Y +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2181509	NM_001282225.2(ADA2):c.446C>T (p.Ala149Val)	ADA2 (A29V +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2181010	NM_001282225.2(ADA2):c.1455G>A (p.Leu485=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2176003	NM_001282225.2(ADA2):c.355G>A (p.Val119Met)	ADA2 (V119M +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2174461	NM_001282225.2(ADA2):c.361A>G (p.Met121Val)	ADA2 (M79V +2 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2173585	NM_001282225.2(ADA2):c.171G>C (p.Glu57Asp)	ADA2 (E57D +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2173364	NM_001282225.2(ADA2):c.415A>G (p.Thr139Ala)	ADA2 (T139A +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2172632	NM_001282225.2(ADA2):c.337C>A (p.Leu113Ile)	ADA2 (L71I +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2172615	NM_001282225.2(ADA2):c.973-7C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2171548	NM_001282225.2(ADA2):c.904G>A (p.Ala302Thr)	ADA2 (A182T +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2170352	NM_001282225.2(ADA2):c.390C>T (p.Tyr130=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2169766	NM_001282225.2(ADA2):c.767G>A (p.Ser256Asn)	ADA2 (S136N +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2169625	NM_001282225.2(ADA2):c.872C>T (p.Ser291Leu)	ADA2 (S171L +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2169458	NM_001282225.2(ADA2):c.1104C>T (p.Asp368=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2169395	NM_001282225.2(ADA2):c.144G>A (p.Gly48=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2169377	NM_001282225.2(ADA2):c.75C>G (p.Gly25=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2164920	NM_001282225.2(ADA2):c.972+10G>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2162417	NM_001282225.2(ADA2):c.111G>C (p.Leu37=)	ADA2	Single nucleotide variant (5 prime UTR variant +2 more)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2161215	NM_001282225.2(ADA2):c.565G>T (p.Val189Leu)	ADA2 (V189L +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2158101	NM_001282225.2(ADA2):c.780T>G (p.His260Gln)	ADA2 (H19Q +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2155179	NM_001282225.2(ADA2):c.975G>A (p.Val325=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2142087	NM_001282225.2(ADA2):c.1240-5C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2138412	NM_001282225.2(ADA2):c.984G>C (p.Glu328Asp)	ADA2 (E208D +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GLikely pathogenic
Select item 2135179	NM_001282225.2(ADA2):c.253C>G (p.His85Asp)	ADA2 (H85D +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2117052	NM_001282225.2(ADA2):c.973-11C>G	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2112369	NM_001282225.2(ADA2):c.580G>A (p.Glu194Lys)	ADA2 (E152K +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2109108	NM_001282225.2(ADA2):c.168G>A (p.Glu56=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2108924	NM_001282225.2(ADA2):c.980A>C (p.His327Pro)	ADA2 (H327P +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2101679	NM_001282225.2(ADA2):c.850A>C (p.Ile284Leu)	ADA2 (I43L +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2101581	NM_001282225.2(ADA2):c.151G>C (p.Val51Leu)	ADA2 (V51L +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2092757	NM_001282225.2(ADA2):c.643T>A (p.Ser215Thr)	ADA2 (S173T +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2092291	NM_001282225.2(ADA2):c.972+8A>G	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2090460	NM_001282225.2(ADA2):c.753+13C>G	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2084768	NM_001282225.2(ADA2):c.926T>C (p.Met309Thr)	ADA2 (M68T +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2079570	NM_001282225.2(ADA2):c.466T>C (p.Ser156Pro)	ADA2 (S114P +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance

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