Related gene-specific medical variations for Gene (Select 103) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 138

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247810	NC_000001.10:g.(?_154562640)_(154580482_?)dup	ADAR	Duplication	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 3080158	NM_001111.5(ADAR):c.2619T>G (p.Ile873Met)	ADAR, LOC126805874 (I578M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2954401	NM_001111.5(ADAR):c.2607G>T (p.Leu869=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +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)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
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 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 2945313	NM_001111.5(ADAR):c.2693C>G (p.Ser898Cys)	ADAR, LOC126805874 (S907C +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2944550	NM_001111.5(ADAR):c.2662G>C (p.Gly888Arg)	LOC126805874, ADAR (G593R +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
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 2941839	NM_001111.5(ADAR):c.2668+18A>G	LOC126805874, ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2940851	NM_001111.5(ADAR):c.2668+13C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2938637	NM_001111.5(ADAR):c.15+15C>A	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2938439	NM_001111.5(ADAR):c.2536A>G (p.Met846Val)	ADAR, LOC126805874 (M820V +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2937747	NM_001111.5(ADAR):c.11G>C (p.Arg4Pro)	ADAR, LOC129931512 (R4P)	Single nucleotide variant (missense variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2935326	NM_001111.5(ADAR):c.2723A>G (p.Asp908Gly)	ADAR, LOC126805874 (D613G +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2935097	NM_001111.5(ADAR):c.2669-19G>A	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2933073	NM_001111.5(ADAR):c.15+7C>T	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2931958	NM_001111.5(ADAR):c.2668+20A>G	LOC126805874, ADAR	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2929719	NM_001111.5(ADAR):c.2596C>T (p.Arg866Cys)	ADAR, LOC126805874 (R545C +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2927323	NM_001111.5(ADAR):c.2653G>A (p.Val885Ile)	ADAR, LOC126805874 (V564I +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2926991	NM_001111.5(ADAR):c.14A>G (p.Gln5Arg)	ADAR, LOC129931512 (Q5R)	Single nucleotide variant (missense variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2925400	NM_001111.5(ADAR):c.12G>T (p.Arg4=)	ADAR, LOC129931512	Single nucleotide variant (intron variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2924130	NM_001111.5(ADAR):c.2668+15G>A	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2921541	NM_001111.5(ADAR):c.2571_2572del (p.Asn857fs)	ADAR, LOC126805874 (N831fs +5 more)	Deletion (frameshift variant)	Symmetrical dyschromatosis of extremities +1 more	GPathogenic
Select item 2690506	NM_001111.5(ADAR):c.1267C>T (p.Gln423Ter)	ADAR (Q128* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2639373	NM_001111.5(ADAR):c.2552G>A (p.Cys851Tyr)	ADAR, LOC126805874 (C530Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438866	NM_001111.5(ADAR):c.2613C>T (p.Ala871=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2202847	NM_001111.5(ADAR):c.2746C>T (p.Arg916Trp)	ADAR, LOC126805874 (R621W +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2200702	NM_001111.5(ADAR):c.2652C>T (p.Val884=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2197597	NM_001111.5(ADAR):c.2565G>A (p.Leu855=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2197305	NM_001111.5(ADAR):c.2758A>C (p.Ile920Leu)	ADAR, LOC126805874 (I625L +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +2 more	GUncertain significance
Select item 2151898	NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)	ADAR, LOC126805874 (L534fs +5 more)	Microsatellite (frameshift variant)	Aicardi-Goutieres syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 2150797	NM_001111.5(ADAR):c.2730T>C (p.His910=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2123252	NM_001111.5(ADAR):c.2643G>C (p.Met881Ile)	ADAR, LOC126805874 (M560I +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2120702	NM_001111.5(ADAR):c.15+6C>G	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2116194	NM_001111.5(ADAR):c.2751A>G (p.Arg917=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2114509	NM_001111.5(ADAR):c.2563C>G (p.Leu855Val)	ADAR, LOC126805874 (L534V +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2108962	NM_001111.5(ADAR):c.2610C>A (p.Ala870=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2049013	NM_001111.5(ADAR):c.2650G>A (p.Val884Ile)	ADAR, LOC126805874 (V858I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2047633	NM_001111.5(ADAR):c.2669-11C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2040804	NM_001111.5(ADAR):c.15+8G>A	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2029338	NM_001111.5(ADAR):c.2669-5C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2029337	NM_001111.5(ADAR):c.2676C>T (p.Arg892=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2025366	NM_001111.5(ADAR):c.2624A>G (p.Lys875Arg)	ADAR, LOC126805874 (K580R +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2019480	NM_001111.5(ADAR):c.2646T>A (p.Gly882=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2019447	NM_001111.5(ADAR):c.15+15C>T	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2019241	NM_001111.5(ADAR):c.2583del (p.Ser862fs)	LOC126805874, ADAR (S836fs +5 more)	Deletion (frameshift variant)	Symmetrical dyschromatosis of extremities +1 more	GPathogenic
Select item 2011648	NM_001111.5(ADAR):c.2738T>C (p.Ile913Thr)	ADAR, LOC126805874 (I618T +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1972289	NM_001111.5(ADAR):c.2670G>A (p.Gly890=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1897057	NM_001111.5(ADAR):c.2762+9G>A	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1672690	NM_001111.5(ADAR):c.15+16C>T	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 1663240	NM_001111.5(ADAR):c.15+10G>A	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1649475	NM_001111.5(ADAR):c.15+13G>C	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 1639738	NM_001111.5(ADAR):c.2762+18T>C	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1630980	NM_001111.5(ADAR):c.15+20G>A	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 1614204	NM_001111.5(ADAR):c.2668+19C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +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 1612558	NM_001111.5(ADAR):c.2565G>T (p.Leu855=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 1580660	NM_001111.5(ADAR):c.2659T>C (p.Leu887=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1574420	NM_001111.5(ADAR):c.2669-8C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 1572159	NM_001111.5(ADAR):c.15+9G>A	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1567065	NM_001111.5(ADAR):c.2668+10G>A	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1563068	NM_001111.5(ADAR):c.2610C>T (p.Ala870=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1556957	NM_001111.5(ADAR):c.2668+11C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1522348	NM_001111.5(ADAR):c.2554T>G (p.Phe852Val)	ADAR, LOC126805874 (F557V +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1515944	NM_001111.5(ADAR):c.2747G>A (p.Arg916Gln)	ADAR, LOC126805874 (R871Q +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1470314	NM_001111.5(ADAR):c.15+4A>G	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1424014	NM_001111.5(ADAR):c.2746C>G (p.Arg916Gly)	ADAR, LOC126805874 (R621G +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1418981	NM_001111.5(ADAR):c.2584T>G (p.Ser862Ala)	ADAR, LOC126805874 (S541A +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1403640	NM_001111.5(ADAR):c.2593G>A (p.Gly865Ser)	ADAR, LOC126805874 (G820S +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1398696	NM_001111.5(ADAR):c.2597G>A (p.Arg866His)	ADAR, LOC126805874 (R545H +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1396756	NM_001111.5(ADAR):c.2632T>C (p.Ser878Pro)	ADAR, LOC126805874 (S887P +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1394761	NM_001111.5(ADAR):c.2699G>T (p.Ser900Ile)	ADAR, LOC126805874 (S605I +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1394170	NM_001111.5(ADAR):c.2668+4A>G	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1390623	NM_001111.5(ADAR):c.2693C>A (p.Ser898Tyr)	ADAR, LOC126805874 (S898Y +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1384982	NM_001111.5(ADAR):c.2762+6C>G	LOC126805874, ADAR	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1373686	NM_001111.5(ADAR):c.2618T>C (p.Ile873Thr)	ADAR, LOC126805874 (I828T +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1370380	NM_001111.5(ADAR):c.2612C>T (p.Ala871Val)	ADAR, LOC126805874 (A880V +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1369200	NM_001111.5(ADAR):c.7C>G (p.Pro3Ala)	ADAR, LOC129931512 (P3A)	Single nucleotide variant (missense variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1345497	NM_001111.5(ADAR):c.2625A>G (p.Lys875=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1342841	NM_001111.5(ADAR):c.3020-759A>G	ADAR	Single nucleotide variant (intron variant)	Colorectal cancer	Gprotective
Select item 1322858	NM_001111.5(ADAR):c.2079+1G>C	ADAR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1296014	NM_001025107.3(ADAR):c.-870-5793G>C	LOC129931513, ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277075	NM_001025107.3(ADAR):c.-870-5704del	ADAR, LOC129931513	Deletion (intron variant)	not provided	GBenign
Select item 1252259	NM_001025107.3(ADAR):c.-870-5732G>A	ADAR, LOC129931513	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232134	NM_001111.5(ADAR):c.2762+184G>C	LOC126805874, ADAR	Single nucleotide variant (intron variant)	not provided	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 1215236	NM_001025107.3(ADAR):c.-870-5705_-870-5704dup	ADAR, LOC129931513	Duplication (intron variant)	not provided	GLikely benign
Select item 1211470	NM_001025107.3(ADAR):c.-870-5704dup	ADAR, LOC129931513	Duplication (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 1200723	NM_001111.5(ADAR):c.2763-79C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187369	NM_001111.5(ADAR):c.2763-52C>G	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184496	NM_001111.5(ADAR):c.758G>A (p.Trp253Ter)	ADAR (W253* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6	GLikely pathogenic
Select item 1184495	NM_001111.5(ADAR):c.2763-2A>G	ADAR	Single nucleotide variant (splice acceptor variant)	Aicardi-Goutieres syndrome 6	GLikely pathogenic
Select item 1184494	NM_001111.5(ADAR):c.3202+1G>A	ADAR	Single nucleotide variant (splice donor variant)	Aicardi-Goutieres syndrome 6	GPathogenic
Select item 1184493	NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs)	ADAR (T1040fs +5 more)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 6	GLikely pathogenic
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 1174432	NM_001111.5(ADAR):c.2762+33C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168694	NM_001111.5(ADAR):c.2668+20A>C	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GBenign
Select item 1117987	NM_001111.5(ADAR):c.2669-12A>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign

<< First< Prev

Page of 2