ClinVar for MedGen (Select 96071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247810	NC_000001.10:g.(?_154562640)_(154580482_?)dup	ADAR	Duplication	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3247808	NC_000001.10:g.(?_153782653)_(154580482_?)dup	ADAR, AQP10 +20 more	Duplication	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2954401	NM_001111.5(ADAR):c.2607G>T (p.Leu869=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2954388	NM_001111.5(ADAR):c.771C>G (p.Ser257Arg)	ADAR (S257R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2954232	NM_001111.5(ADAR):c.2076C>T (p.Asn692=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2954225	NM_001111.5(ADAR):c.1002A>G (p.Leu334=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2954214	NM_001111.5(ADAR):c.501T>G (p.Thr167=)	ADAR	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2954166	NM_001111.5(ADAR):c.2758A>G (p.Ile920Val)	ADAR, LOC126805874 (I599V +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2954127	NM_001111.5(ADAR):c.2034G>C (p.Lys678Asn)	ADAR (K678N +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2954011	NM_001111.5(ADAR):c.3309C>T (p.His1103=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2953959	NM_001111.5(ADAR):c.3152C>G (p.Ala1051Gly)	ADAR (A1025G +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2953804	NM_001111.5(ADAR):c.3487C>T (p.Leu1163Phe)	ADAR (L1118F +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2953792	NM_001111.5(ADAR):c.1623C>A (p.Ile541=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2953786	NM_001111.5(ADAR):c.3348G>A (p.Arg1116=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2953399	NM_001111.5(ADAR):c.3633del (p.Asn1210_Trp1211insTer)	ADAR	Deletion (nonsense)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2953375	NM_001111.5(ADAR):c.3186C>G (p.Leu1062=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2953345	NM_001111.5(ADAR):c.1011_1012del (p.Met337fs)	ADAR (M337fs +2 more)	Deletion (frameshift variant)	Symmetrical dyschromatosis of extremities +1 more	GPathogenic
Select item 2953312	NM_001111.5(ADAR):c.3471C>T (p.Ser1157=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2953235	NM_001111.5(ADAR):c.2401C>T (p.Arg801Cys)	ADAR (R810C +3 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2952884	NM_001111.5(ADAR):c.1785G>A (p.Lys595=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2952834	NM_001111.5(ADAR):c.205C>T (p.Pro69Ser)	ADAR (P69S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2952788	NM_001111.5(ADAR):c.2763-1G>A	ADAR	Single nucleotide variant (splice acceptor variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely pathogenic
Select item 2952654	NM_001111.5(ADAR):c.2668+6T>G	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2952577	NM_001111.5(ADAR):c.292C>T (p.His98Tyr)	ADAR (H98Y +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2952469	NM_001111.5(ADAR):c.2886-19A>C	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2952446	NM_001111.5(ADAR):c.1359G>A (p.Gln453=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2952325	NM_001111.5(ADAR):c.3605G>T (p.Gly1202Val)	ADAR (G1176V +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2952238	NM_001111.5(ADAR):c.3417G>T (p.Leu1139=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2951957	NM_001111.5(ADAR):c.3386G>T (p.Cys1129Phe)	ADAR (C834F +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2951950	NM_001111.5(ADAR):c.3316-4dup	ADAR	Duplication (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2951672	NM_001111.5(ADAR):c.1705C>G (p.Leu569Val)	ADAR (L569V +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2951627	NM_001111.5(ADAR):c.1700C>G (p.Thr567Arg)	ADAR (T567R +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2951275	NM_001111.5(ADAR):c.2661G>A (p.Leu887=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2951185	NM_001111.5(ADAR):c.2832G>A (p.Lys944=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2951158	NM_001111.5(ADAR):c.3081C>G (p.Leu1027=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2950915	NM_001111.5(ADAR):c.1370A>G (p.Asp457Gly)	ADAR (D162G +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2950708	NM_001111.5(ADAR):c.1213A>G (p.Thr405Ala)	ADAR (T405A +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2950705	NM_001111.5(ADAR):c.1999G>A (p.Val667Met)	ADAR (V372M +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2950650	NM_001111.5(ADAR):c.1740dup (p.Ser581fs)	ADAR (S581fs +2 more)	Duplication (frameshift variant)	Symmetrical dyschromatosis of extremities +1 more	GPathogenic
Select item 2950482	NM_001111.5(ADAR):c.116T>G (p.Phe39Cys)	ADAR (F39C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2950468	NM_001111.5(ADAR):c.1795_1806del (p.Ser599_Pro602del)	ADAR	Deletion (inframe_deletion)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2950206	NM_001111.5(ADAR):c.595G>A (p.Val199Ile)	ADAR (V199I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2949974	NM_001111.5(ADAR):c.3665A>C (p.Tyr1222Ser)	ADAR (Y1177S +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2949594	NM_001111.5(ADAR):c.3188A>G (p.Lys1063Arg)	ADAR (K1063R +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2949334	NM_001111.5(ADAR):c.734T>C (p.Phe245Ser)	ADAR (F245S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2948957	NM_001111.5(ADAR):c.1716A>G (p.Glu572=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2948943	NM_001111.5(ADAR):c.1146G>C (p.Glu382Asp)	ADAR (E382D +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2948907	NM_001111.5(ADAR):c.925A>G (p.Asn309Asp)	ADAR (N14D +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2948819	NM_001111.5(ADAR):c.930G>T (p.Val310=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2948595	NM_001111.5(ADAR):c.3316-16C>A	ADAR	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2947942	NM_001111.5(ADAR):c.1497C>T (p.Cys499=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2947898	NM_001111.5(ADAR):c.3270A>G (p.Ala1090=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2947893	NM_001111.5(ADAR):c.1570A>G (p.Ile524Val)	ADAR (I229V +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2947736	NM_001111.5(ADAR):c.1739A>G (p.Lys580Arg)	ADAR (K580R +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2947518	NM_001111.5(ADAR):c.320G>A (p.Gly107Glu)	ADAR (G107E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2947490	NM_001111.5(ADAR):c.1934+4T>C	ADAR	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2947442	NM_001111.5(ADAR):c.1485A>G (p.Lys495=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2947307	NM_001111.5(ADAR):c.2786A>C (p.Lys929Thr)	ADAR (K884T +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2947182	NM_001111.5(ADAR):c.470C>T (p.Thr157Ile)	ADAR (T157I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2947180	NM_001111.5(ADAR):c.2194T>C (p.Leu732=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2947008	NM_001111.5(ADAR):c.298_299delinsGC (p.Arg100Ala)	ADAR (R109A +1 more)	Indel (5 prime UTR variant +2 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2946884	NM_001111.5(ADAR):c.1000C>T (p.Leu334=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2946741	NM_001111.5(ADAR):c.3404A>G (p.Asp1135Gly)	ADAR (D1090G +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2946637	NM_001111.5(ADAR):c.2157C>G (p.Leu719=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2946451	NM_001111.5(ADAR):c.2268C>G (p.Pro756=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2946342	NM_001111.5(ADAR):c.2509G>A (p.Gly837Ser)	ADAR (G811S +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2946309	NM_001111.5(ADAR):c.1576C>T (p.Gln526Ter)	ADAR (Q526* +2 more)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 6 +1 more	GPathogenic
Select item 2946046	NM_001111.5(ADAR):c.271A>G (p.Arg91Gly)	ADAR (R91G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2945972	NM_001111.5(ADAR):c.2130CAA[1] (p.Asn711del)	ADAR (N711del +2 more)	Microsatellite (inframe_deletion +1 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2945962	NM_001111.5(ADAR):c.2931C>T (p.Ser977=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2945855	NM_001111.5(ADAR):c.1872C>T (p.His624=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2945749	NM_001111.5(ADAR):c.1222A>G (p.Lys408Glu)	ADAR (K417E +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2945737	NM_001111.5(ADAR):c.1209G>A (p.Met403Ile)	ADAR (M108I +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2945665	NM_001111.5(ADAR):c.2359G>A (p.Ala787Thr)	ADAR (A768T +3 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2945612	NM_001111.5(ADAR):c.2886-14C>T	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2945318	NM_001111.5(ADAR):c.377T>C (p.Leu126Pro)	ADAR (L126P +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2945313	NM_001111.5(ADAR):c.2693C>G (p.Ser898Cys)	ADAR, LOC126805874 (S907C +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2945070	NM_001111.5(ADAR):c.2112C>T (p.Asn704=)	ADAR	Single nucleotide variant (synonymous variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2944934	NM_001111.5(ADAR):c.348G>A (p.Arg116=)	ADAR	Single nucleotide variant (5 prime UTR variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2944860	NM_001111.5(ADAR):c.3430G>A (p.Gly1144Ser)	ADAR (G1099S +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2944730	NM_001111.5(ADAR):c.1636T>C (p.Phe546Leu)	ADAR (F555L +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2944698	NM_001111.5(ADAR):c.221G>A (p.Arg74Lys)	ADAR (R83K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2944550	NM_001111.5(ADAR):c.2662G>C (p.Gly888Arg)	ADAR, LOC126805874 (G593R +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2944519	NM_001111.5(ADAR):c.335C>T (p.Ser112Leu)	ADAR (S121L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2944482	NM_001111.5(ADAR):c.3007A>G (p.Lys1003Glu)	ADAR (K1003E +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2944427	NM_001111.5(ADAR):c.2939C>T (p.Ala980Val)	ADAR (A685V +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2944409	NM_001111.5(ADAR):c.3316-16C>T	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2943877	NM_001111.5(ADAR):c.3077G>A (p.Arg1026Gln)	ADAR (R1000Q +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2943873	NM_001111.5(ADAR):c.2945A>C (p.Glu982Ala)	ADAR (E687A +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2943653	NM_001111.5(ADAR):c.3354C>G (p.Ser1118=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2943279	NM_001111.5(ADAR):c.2458CTC[2] (p.Leu822del)	ADAR (L527del +2 more)	Microsatellite (inframe_deletion +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2943113	NM_001111.5(ADAR):c.3476del (p.Lys1159fs)	ADAR (K1168fs +5 more)	Deletion (frameshift variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2943112	NM_001111.5(ADAR):c.3566C>T (p.Ala1189Val)	ADAR (A1144V +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2942951	NM_001111.5(ADAR):c.530A>G (p.Tyr177Cys)	ADAR (Y177C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2942888	NM_001111.5(ADAR):c.1569G>A (p.Met523Ile)	ADAR (M523I +2 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2942810	NM_001111.5(ADAR):c.391C>T (p.Gln131Ter)	ADAR (Q131* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GPathogenic
Select item 2942694	NM_001111.5(ADAR):c.2721T>C (p.Asn907=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2942649	NM_001111.5(ADAR):c.741A>C (p.Ala247=)	ADAR	Single nucleotide variant (5 prime UTR variant +1 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2942641	NM_001111.5(ADAR):c.3029C>T (p.Thr1010Ile)	ADAR (T689I +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2942635	NM_001111.5(ADAR):c.3020-10T>G	ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance

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