ClinVar for MedGen (Select 761287) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3898025	NM_001111.5(ADAR):c.3355G>A (p.Gly1119Arg)	ADAR (G1074R +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GUncertain significance
Select item 3775740	NM_001111.5(ADAR):c.600_646del (p.Ser200_Thr201insTer)	ADAR	Deletion (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6	GPathogenic
Select item 3763896	NM_001111.5(ADAR):c.325C>T (p.Gln109Ter)	ADAR (Q109* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Aicardi-Goutieres syndrome 6 +1 more	GPathogenic
Select item 3763723	NM_001111.5(ADAR):c.701C>T (p.Ser234Phe)	ADAR (S234F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 3763701	NM_001111.5(ADAR):c.2244C>T (p.Asp748=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 3763578	NM_001111.5(ADAR):c.2022G>A (p.Glu674=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 3763394	NM_001111.5(ADAR):c.2617A>G (p.Ile873Val)	ADAR, LOC126805874 (I552V +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 3763209	NM_001111.5(ADAR):c.2929A>G (p.Ser977Gly)	ADAR (S656G +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 3763180	NM_001111.5(ADAR):c.3674C>T (p.Pro1225Leu)	ADAR (P1180L +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 3763120	NM_001111.5(ADAR):c.997G>A (p.Val333Met)	ADAR (V333M +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 3763047	NM_001111.5(ADAR):c.1187C>T (p.Thr396Ile)	ADAR (T101I +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 3762942	NM_001111.5(ADAR):c.2121C>G (p.Ser707=)	ADAR	Single nucleotide variant (synonymous variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3762665	NM_001111.5(ADAR):c.3202G>A (p.Gly1068Ser)	ADAR (G1023S +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3762301	NM_001111.5(ADAR):c.2944G>A (p.Glu982Lys)	ADAR (E661K +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3762259	NM_001111.5(ADAR):c.2637G>A (p.Glu879=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3762174	NM_001111.5(ADAR):c.2641_2642delinsTC (p.Met881Ser)	ADAR, LOC126805874 (M560S +5 more)	Indel (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3762092	NM_001111.5(ADAR):c.2299C>T (p.Arg767Cys)	ADAR (R472C +3 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3762083	NM_001111.5(ADAR):c.1602-17A>T	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3761932	NM_001111.5(ADAR):c.3360G>A (p.Lys1120=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3760501	NM_001111.5(ADAR):c.1934+19C>G	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3760490	NM_001111.5(ADAR):c.2079+14C>T	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3760468	NM_001111.5(ADAR):c.3444-15C>T	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3760317	NM_001111.5(ADAR):c.3372A>G (p.Thr1124=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3760229	NM_001111.5(ADAR):c.2884A>G (p.Ser962Gly)	ADAR (S641G +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3760192	NM_001111.5(ADAR):c.3019+10dup	ADAR	Duplication (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3760106	NM_001111.5(ADAR):c.1269A>G (p.Gln423=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3760066	NM_001111.5(ADAR):c.1793del (p.Glu598fs)	ADAR (E303fs +2 more)	Deletion (frameshift variant)	Symmetrical dyschromatosis of extremities +1 more	GPathogenic
Select item 3759959	NM_001111.5(ADAR):c.285G>A (p.Arg95=)	ADAR	Single nucleotide variant (5 prime UTR variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3759955	NM_001111.5(ADAR):c.2250C>A (p.Ser750=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3759949	NM_001111.5(ADAR):c.3019+13T>C	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3759746	NM_001111.5(ADAR):c.3443+1G>T	ADAR	Single nucleotide variant (splice donor variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3759544	NM_001111.5(ADAR):c.2450G>T (p.Arg817Ile)	ADAR (R522I +2 more)	Single nucleotide variant (missense variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3759490	NM_001111.5(ADAR):c.2352A>G (p.Ala784=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3759362	NM_001111.5(ADAR):c.455A>G (p.Glu152Gly)	ADAR (E152G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3759022	NM_001111.5(ADAR):c.3100A>G (p.Met1034Val)	ADAR (M1008V +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3759021	NM_001111.5(ADAR):c.3107G>C (p.Cys1036Ser)	ADAR (C1010S +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3759006	NM_001111.5(ADAR):c.3060T>C (p.Pro1020=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3758954	NM_001111.5(ADAR):c.1243C>G (p.Pro415Ala)	ADAR (P120A +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758745	NM_001111.5(ADAR):c.2756T>A (p.Phe919Tyr)	ADAR, LOC126805874 (F598Y +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +2 more	GUncertain significance
Select item 3758716	NM_001111.5(ADAR):c.2999T>G (p.Leu1000Arg)	ADAR (L1000R +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758709	NM_001111.5(ADAR):c.2986A>G (p.Lys996Glu)	ADAR (K1005E +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758638	NM_001111.5(ADAR):c.3443+10C>G	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3758631	NM_001111.5(ADAR):c.1930C>T (p.Pro644Ser)	ADAR (P349S +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758580	NM_001111.5(ADAR):c.1169T>G (p.Leu390Arg)	ADAR (L390R +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758460	NM_001111.5(ADAR):c.2433A>G (p.Thr811=)	ADAR	Single nucleotide variant (synonymous variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3758427	NM_001111.5(ADAR):c.1979_1980del (p.Val660fs)	ADAR (V365fs +2 more)	Microsatellite (frameshift variant)	Symmetrical dyschromatosis of extremities +1 more	GPathogenic
Select item 3758416	NM_001111.5(ADAR):c.1082A>G (p.Glu361Gly)	ADAR (E361G +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758414	NM_001111.5(ADAR):c.3473A>T (p.Lys1158Ile)	ADAR (K1113I +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758402	NM_001111.5(ADAR):c.8C>T (p.Pro3Leu)	ADAR, LOC129931512 (P3L)	Single nucleotide variant (missense variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758309	NM_001111.5(ADAR):c.809C>T (p.Pro270Leu)	ADAR (P270L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758295	NM_001111.5(ADAR):c.2002G>A (p.Ala668Thr)	ADAR (A373T +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758242	NM_001111.5(ADAR):c.1484A>G (p.Lys495Arg)	ADAR (K200R +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758165	NM_001111.5(ADAR):c.1052C>G (p.Pro351Arg)	ADAR (P351R +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758160	NM_001111.5(ADAR):c.3571G>A (p.Asp1191Asn)	ADAR (D1146N +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758104	NM_001111.5(ADAR):c.1374C>T (p.Asp458=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3758074	NM_001111.5(ADAR):c.2860A>C (p.Thr954Pro)	ADAR (T633P +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3758007	NM_001111.5(ADAR):c.2037C>T (p.Ala679=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3758006	NM_001111.5(ADAR):c.2632T>G (p.Ser878Ala)	ADAR, LOC126805874 (S557A +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3757996	NM_001111.5(ADAR):c.1935-5G>T	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3757872	NM_001111.5(ADAR):c.930G>A (p.Val310=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3757796	NM_001111.5(ADAR):c.2877G>C (p.Leu959=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3757744	NM_001111.5(ADAR):c.3112G>T (p.Asp1038Tyr)	ADAR (D1012Y +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3757702	NM_001111.5(ADAR):c.1602-3A>G	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3757683	NM_001111.5(ADAR):c.219A>G (p.Pro73=)	ADAR	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3757666	NM_001111.5(ADAR):c.3435T>C (p.Thr1145=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3757594	NM_001111.5(ADAR):c.3019+1G>A	ADAR	Single nucleotide variant (splice donor variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely pathogenic
Select item 3757577	NM_001111.5(ADAR):c.704C>T (p.Thr235Ile)	ADAR (T235I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3757370	NM_001111.5(ADAR):c.892G>A (p.Glu298Lys)	ADAR (E298K +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3757362	NM_001111.5(ADAR):c.2505C>G (p.Leu835=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3757310	NM_001111.5(ADAR):c.1758C>T (p.His586=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3757205	NM_001111.5(ADAR):c.2245C>T (p.Gln749Ter)	ADAR (Q454* +3 more)	Single nucleotide variant (nonsense)	Symmetrical dyschromatosis of extremities +1 more	GPathogenic
Select item 3757137	NM_001111.5(ADAR):c.2270+6T>G	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3757039	NM_001111.5(ADAR):c.18G>A (p.Gly6=)	ADAR	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3757038	NM_001111.5(ADAR):c.1973C>A (p.Pro658His)	ADAR (P363H +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3756968	NM_001111.5(ADAR):c.523G>A (p.Val175Ile)	ADAR (V175I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3756689	NM_001111.5(ADAR):c.1959A>G (p.Gly653=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3756648	NM_001111.5(ADAR):c.2297G>T (p.Gly766Val)	ADAR (G471V +3 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3756590	NM_001111.5(ADAR):c.2375T>C (p.Leu792Ser)	ADAR (L497S +3 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3756554	NM_001111.5(ADAR):c.1592A>G (p.His531Arg)	ADAR (H236R +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3756318	NM_001111.5(ADAR):c.97G>C (p.Gly33Arg)	ADAR (G33R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3756286	NM_001111.5(ADAR):c.1514T>A (p.Ile505Asn)	ADAR (I210N +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3756276	NM_001111.5(ADAR):c.3315+11C>G	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3756174	NM_001111.5(ADAR):c.3279T>A (p.Asp1093Glu)	ADAR (D1048E +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3756155	NM_001111.5(ADAR):c.15+12C>T	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3756022	NM_001111.5(ADAR):c.344G>A (p.Gly115Asp)	ADAR (G115D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3755961	NM_001111.5(ADAR):c.670G>C (p.Asp224His)	ADAR (D224H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3755736	NM_001111.5(ADAR):c.3020-9C>G	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3755713	NM_001111.5(ADAR):c.243C>T (p.Ser81=)	ADAR	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3755560	NM_001111.5(ADAR):c.2049G>A (p.Glu683=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3755535	NM_001111.5(ADAR):c.1785+16C>G	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3755533	NM_001111.5(ADAR):c.3555C>T (p.Ala1185=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3755493	NM_001111.5(ADAR):c.699C>G (p.Asn233Lys)	ADAR (N233K +1 more)	Single nucleotide variant (missense variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3755319	NM_001111.5(ADAR):c.3202+3A>G	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3755208	NM_001111.5(ADAR):c.2271-7C>T	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3755190	NM_001111.5(ADAR):c.3661T>C (p.Phe1221Leu)	ADAR (F1176L +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3755147	NM_001111.5(ADAR):c.1444T>C (p.Phe482Leu)	ADAR (F187L +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3755126	NM_001111.5(ADAR):c.805T>C (p.Ser269Pro)	ADAR (S269P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3755016	NM_001111.5(ADAR):c.244A>G (p.Ser82Gly)	ADAR (S82G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3754930	NM_001111.5(ADAR):c.2166C>T (p.Tyr722=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 3754887	NM_001111.5(ADAR):c.2367C>T (p.Leu789=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign

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