"GeneDx"[submitter] AND "ADAR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 1205780	NM_001111.5(ADAR):c.*309T>G	ADAR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 424040	NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys)	ADAR (E1193K +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1303192	NM_001111.5(ADAR):c.3556A>G (p.Lys1186Glu)	ADAR (K1141E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207421	NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp)	ADAR (R1110W +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1695514	NM_001111.5(ADAR):c.3443+2T>A	ADAR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 996946	NM_001111.5(ADAR):c.3433A>G (p.Thr1145Ala)	ADAR (T1100A +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 3340424	NM_001111.5(ADAR):c.3365A>T (p.Lys1122Met)	ADAR (K1077M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197977	NM_001111.5(ADAR):c.3301G>A (p.Val1101Ile)	ADAR (V1101I +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 1507551	NM_001111.5(ADAR):c.3301G>T (p.Val1101Phe)	ADAR (V1075F +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 985814	NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)	ADAR (R1051* +5 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 392448	NM_001111.5(ADAR):c.3201G>A (p.Leu1067=)	ADAR	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 389456	NM_001111.5(ADAR):c.3130A>T (p.Asn1044Tyr)	ADAR (N1044Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571694	NM_001111.5(ADAR):c.3102G>A (p.Met1034Ile)	ADAR (M1008I +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 387356	NM_001111.5(ADAR):c.3095G>A (p.Arg1032His)	ADAR (R1032H +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +2 more	GUncertain significance
Select item 2501341	NM_001111.5(ADAR):c.3091C>T (p.Leu1031Phe)	ADAR (L1005F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702557	NM_001111.5(ADAR):c.3058C>A (p.Pro1020Thr)	ADAR (P1020T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427090	NM_001111.5(ADAR):c.3020-3C>G	ADAR	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1199590	NM_001111.5(ADAR):c.3020-137C>T	ADAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180313	NM_001111.5(ADAR):c.3020-197C>G	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 39458	NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	ADAR (G1007R +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +2 more	GPathogenic/Likely pathogenic
Select item 3368138	NM_001111.5(ADAR):c.3011T>G (p.Val1004Gly)	ADAR (V1004G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314253	NM_001111.5(ADAR):c.3004A>C (p.Thr1002Pro)	ADAR (T1002P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422292	NM_001111.5(ADAR):c.3002_3003delinsTT (p.Arg1001Leu)	ADAR (R975L +5 more)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 3365673	NM_001111.5(ADAR):c.2969C>T (p.Pro990Leu)	ADAR (P669L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723840	NM_001111.5(ADAR):c.2894C>T (p.Pro965Leu)	ADAR (P644L +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 706939	NM_001111.5(ADAR):c.2886-11_2886-10del	ADAR	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1329511	NM_001111.5(ADAR):c.2886-12C>G	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +2 more	GConflicting classifications of pathogenicity
Select item 2574985	NM_001111.5(ADAR):c.2771A>G (p.Tyr924Cys)	ADAR (Y603C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187369	NM_001111.5(ADAR):c.2763-52C>G	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200723	NM_001111.5(ADAR):c.2763-79C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183352	NM_001111.5(ADAR):c.2763-112C>G	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1215289	NM_001111.5(ADAR):c.2763-213G>A	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200761	NM_001111.5(ADAR):c.2762+206G>A	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232134	NM_001111.5(ADAR):c.2762+184G>C	LOC126805874, ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174432	NM_001111.5(ADAR):c.2762+33C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3372949	NM_001111.5(ADAR):c.2724C>A (p.Asp908Glu)	ADAR, LOC126805874 (D587E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257474	NM_001111.5(ADAR):c.2682G>A (p.Val894=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +3 more	GBenign
Select item 419608	NM_001111.5(ADAR):c.2669-1G>C	ADAR, LOC126805874	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 292766	NM_001111.5(ADAR):c.2668+6T>C	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +2 more	GConflicting classifications of pathogenicity
Select item 1396756	NM_001111.5(ADAR):c.2632T>C (p.Ser878Pro)	ADAR, LOC126805874 (S887P +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 817052	NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs)	ADAR, LOC126805874 (N831fs +5 more)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 6 +1 more	GPathogenic
Select item 649961	NM_001111.5(ADAR):c.2564dup (p.Thr856fs)	ADAR, LOC126805874 (T830fs +5 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2151898	NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)	ADAR, LOC126805874 (L534fs +5 more)	Microsatellite (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285022	NM_001111.5(ADAR):c.2553C>T (p.Cys851=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +3 more	GBenign/Likely benign
Select item 1196235	NM_001111.5(ADAR):c.2497-91C>T	ADAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2506794	NM_001111.5(ADAR):c.2496+41_2496+42dup	ADAR	Duplication (intron variant)	not provided	GLikely benign
Select item 1232856	NM_001111.5(ADAR):c.2496+36dup	ADAR	Duplication (intron variant)	not provided	GBenign
Select item 1188899	NM_001111.5(ADAR):c.2496+35C>G	ADAR	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1277393	NM_001111.5(ADAR):c.2496+31G>T	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 521470	NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)	ADAR (A822fs +2 more)	Deletion (frameshift variant +1 more)	Aicardi-Goutieres syndrome 6 +3 more	GPathogenic/Likely pathogenic
Select item 1800729	NM_001111.5(ADAR):c.2290G>T (p.Val764Phe)	ADAR (V469F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 653292	NM_001111.5(ADAR):c.2275G>A (p.Val759Ile)	ADAR (V464I +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1281503	NM_001111.5(ADAR):c.2271-272T>C	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260547	NM_001111.5(ADAR):c.2270+102C>T	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1064276	NM_001111.5(ADAR):c.2224G>A (p.Ala742Thr)	ADAR (A447T +3 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 817053	NM_001111.5(ADAR):c.2180del (p.Pro727fs)	ADAR (P708fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1180386	NM_001111.5(ADAR):c.1935-152C>G	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194629	NM_001111.5(ADAR):c.1935-261G>C	ADAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 292771	NM_001111.5(ADAR):c.1926T>C (p.His642=)	ADAR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 292772	NM_001111.5(ADAR):c.1910A>G (p.Lys637Arg)	ADAR (K637R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1498766	NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys)	ADAR (E640K +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +3 more	GUncertain significance
Select item 2574234	NM_001111.5(ADAR):c.1798C>T (p.Gln600Ter)	ADAR (Q305* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1181434	NM_001111.5(ADAR):c.1785+186C>T	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 196312	NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys)	ADAR (Y292C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 817719	NM_001111.5(ADAR):c.1714dup (p.Glu572fs)	ADAR (E581fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 641602	NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)	ADAR (N542S +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 1264418	NM_001111.5(ADAR):c.1602-116_1602-114dup	ADAR	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1192100	NM_001111.5(ADAR):c.1601+317C>T	ADAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259173	NM_001111.5(ADAR):c.1601+98G>A	ADAR	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 540263	NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser)	ADAR (A515S +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +2 more	GUncertain significance
Select item 420164	NM_001111.5(ADAR):c.1493_1494del (p.Glu498fs)	ADAR (E498fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 959599	NM_001111.5(ADAR):c.1400G>A (p.Arg467His)	ADAR (R172H +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 235339	NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly)	ADAR (E410G +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 195112	NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg)	ADAR (K89R +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +3 more	GBenign
Select item 3375734	NM_001111.5(ADAR):c.1078C>T (p.Arg360Ter)	ADAR (R360* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 391740	NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn)	ADAR (D336N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 292781	NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe)	ADAR (I335F +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +2 more	GBenign/Likely benign
Select item 429644	NM_001111.5(ADAR):c.909C>G (p.Ile303Met)	ADAR (I303M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500617	NM_001111.5(ADAR):c.658_804del (p.Ala220_Gly268del)	ADAR	Deletion (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 292782	NM_001111.5(ADAR):c.772G>A (p.Gly258Arg)	ADAR (G258R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6 +2 more	GBenign/Likely benign
Select item 392478	NM_001111.5(ADAR):c.615C>A (p.Asn205Lys)	ADAR (N205K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 126395	NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	ADAR (P193A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	ADAR-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 540266	NM_001111.5(ADAR):c.547G>A (p.Gly183Ser)	ADAR (G183S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 767142	NM_001111.5(ADAR):c.518A>G (p.Asn173Ser)	ADAR (N182S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1433426	NM_001111.5(ADAR):c.434A>G (p.Lys145Arg)	ADAR (K154R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 3364126	NM_001111.5(ADAR):c.277G>A (p.Val93Ile)	ADAR (V102I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3367680	NM_001111.5(ADAR):c.94_95delinsAA (p.Pro32Lys)	ADAR (P32K +1 more)	Indel (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 257476	NM_001111.5(ADAR):c.78G>A (p.Arg26=)	ADAR	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +3 more	GBenign
Select item 1264740	NM_001111.5(ADAR):c.16-213T>G	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275613	NM_001111.5(ADAR):c.16-219C>T	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265473	NM_001111.5(ADAR):c.16-234T>C	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296577	NM_001111.5(ADAR):c.16-323A>G	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363809	NM_001111.5(ADAR):c.15+1988T>G	ADAR	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1232002	NM_001111.5(ADAR):c.15+258_15+269del	ADAR	Deletion (intron variant)	not provided	GBenign
Select item 1215230	NM_001111.5(ADAR):c.15+259_15+268del	ADAR	Deletion (intron variant)	not provided	GLikely benign
Select item 1273559	NM_001111.5(ADAR):c.15+241TG[10]	ADAR	Microsatellite (intron variant)	not provided	GBenign
Select item 1199975	NM_001111.5(ADAR):c.15+241TG[11]	ADAR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1269584	NM_001111.5(ADAR):c.15+257T>C	ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264253	NM_001111.5(ADAR):c.15+104GT[9]	ADAR	Microsatellite (intron variant)	not specified +1 more	GBenign

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