C0406775[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 961650	NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met)	ADAR (T1149M +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 292758	NM_001111.5(ADAR):c.3523A>C (p.Arg1175=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +2 more	GBenign/Likely benign
Select item 640434	NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln)	ADAR (K1141Q +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 257475	NM_001111.5(ADAR):c.3443+8G>A	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +3 more	GBenign
Select item 664624	NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)	ADAR (K1077* +5 more)	Duplication (nonsense)	Aicardi-Goutieres syndrome 6 +1 more	GPathogenic/Likely pathogenic
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 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 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 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 1494864	NM_001111.5(ADAR):c.2960G>A (p.Arg987His)	ADAR (R942H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 292763	NM_001111.5(ADAR):c.2920A>G (p.Lys974Glu)	ADAR (K974E +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 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 859647	NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu)	ADAR (K649E +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	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 292765	NM_001111.5(ADAR):c.2669-9C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1613618	NM_001111.5(ADAR):c.2598C>G (p.Arg866=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
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 806224	NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln)	ADAR, LOC126805874 (R555Q +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 540262	NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp)	ADAR, LOC126805874 (R850W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 875378	NM_001111.5(ADAR):c.2497-15C>T	ADAR	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	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 287411	NM_001111.5(ADAR):c.2496+9G>A	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +2 more	GBenign
Select item 875379	NM_001111.5(ADAR):c.2496+8C>T	ADAR	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GBenign/Likely benign
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 992535	NM_001111.5(ADAR):c.2360C>T (p.Ala787Val)	ADAR (A492V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 876409	NM_001111.5(ADAR):c.2319C>T (p.Cys773=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GBenign/Likely benign
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 955967	NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn)	ADAR (D453N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 1107865	NM_001111.5(ADAR):c.1935-19G>A	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 292769	NM_001111.5(ADAR):c.1934+12G>A	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GBenign/Likely benign
Select item 292770	NM_001111.5(ADAR):c.1934+8C>T	ADAR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely 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 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 292773	NM_001111.5(ADAR):c.1851C>A (p.Thr617=)	ADAR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 841529	NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala)	ADAR (T610A +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 565540	NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys)	ADAR (E594K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 661797	NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg)	ADAR (T589R +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +3 more	GUncertain significance
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 1012545	NM_001111.5(ADAR):c.1741T>C (p.Ser581Pro)	ADAR (S286P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 540269	NM_001111.5(ADAR):c.1725C>T (p.Ala575=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
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 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 639802	NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln)	ADAR (R179Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 292778	NM_001111.5(ADAR):c.1402G>T (p.Ala468Ser)	ADAR (A468S +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
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 874511	NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn)	ADAR (D163N +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +2 more	GUncertain significance
Select item 1364877	NM_001111.5(ADAR):c.1316A>G (p.Asn439Ser)	ADAR (N144S +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 1371182	NM_001111.5(ADAR):c.1207A>G (p.Met403Val)	ADAR (M108V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 874512	NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr)	ADAR (S102T +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GConflicting classifications of pathogenicity
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 540264	NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile)	ADAR (N368I +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +2 more	GUncertain significance
Select item 875437	NM_001111.5(ADAR):c.1097A>G (p.Lys366Arg)	ADAR (K366R +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 959879	NM_001111.5(ADAR):c.1062T>G (p.His354Gln)	ADAR (H354Q +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1509297	NM_001111.5(ADAR):c.1049C>T (p.Pro350Leu)	ADAR (P350L +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
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 806225	NM_001111.5(ADAR):c.983G>A (p.Arg328Gln)	ADAR (R328Q +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 598995	NM_001111.5(ADAR):c.841A>G (p.Ser281Gly)	ADAR (S281G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +11 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 655486	NM_001111.5(ADAR):c.656G>C (p.Gly219Ala)	ADAR (G228A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 875439	NM_001111.5(ADAR):c.642C>T (p.Asp214=)	ADAR	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
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 1412463	NM_001111.5(ADAR):c.500C>T (p.Thr167Ile)	ADAR (T167I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
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 647145	NM_001111.5(ADAR):c.415C>G (p.Gln139Glu)	ADAR (Q148E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +2 more	GUncertain significance
Select item 500335	NM_001111.5(ADAR):c.298A>G (p.Arg100Gly)	ADAR (R100G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Symmetrical dyschromatosis of extremities +3 more	GBenign
Select item 292786	NM_001111.5(ADAR):c.224T>G (p.Phe75Cys)	ADAR (F75C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +2 more	GUncertain significance
Select item 772126	NM_001111.5(ADAR):c.222G>A (p.Arg74=)	ADAR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 1011541	NM_001111.5(ADAR):c.164C>T (p.Pro55Leu)	ADAR (P55L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6 +1 more	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 876463	NM_001111.5(ADAR):c.57C>T (p.Gly19=)	ADAR	Single nucleotide variant (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6 +2 more	GBenign/Likely benign
Select item 193166	NM_001111.5(ADAR):c.15+10G>T	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +3 more	GBenign
Select item 931633	NM_001111.5(ADAR):c.1A>G (p.Met1Val)	ADAR, LOC129931512 (M1V)	Single nucleotide variant (missense variant +3 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance

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Items: 75