ClinVar for Gene (Select 339123) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365683	NM_005861.4(STUB1):c.565G>A (p.Asp189Asn)	JMJD8, STUB1 (D117N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3343961	NM_005861.4(STUB1):c.722G>C (p.Arg241Pro)	JMJD8, STUB1 (R169P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3342376	NM_005861.4(STUB1):c.586C>T (p.Gln196Ter)	JMJD8, STUB1 (Q124* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 3340972	NM_005861.4(STUB1):c.772G>T (p.Glu258Ter)	JMJD8, STUB1 (E186* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 3338115	NM_005861.4(STUB1):c.784C>T (p.Gln262Ter)	JMJD8, STUB1 (Q190* +1 more)	Single nucleotide variant (nonsense +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 3287212	NM_001005920.4(JMJD8):c.532T>C (p.Phe178Leu)	JMJD8 (F178L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287211	NM_001005920.4(JMJD8):c.215C>G (p.Thr72Arg)	JMJD8 (T72R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287210	NM_001005920.4(JMJD8):c.467T>C (p.Phe156Ser)	JMJD8 (F126S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287209	NM_001005920.4(JMJD8):c.307T>C (p.Tyr103His)	JMJD8 (Y103H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257486	NM_005861.4(STUB1):c.613-8C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3256994	NM_005861.4(STUB1):c.788G>A (p.Arg263His)	JMJD8, STUB1 (R191H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3253121	NM_005861.4(STUB1):c.888G>T (p.Glu296Asp)	JMJD8, STUB1 (E224D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3238956	NM_005861.4(STUB1):c.848A>G (p.Asn283Ser)	JMJD8, STUB1 (N211S +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 3238772	NM_005861.4(STUB1):c.755A>G (p.Tyr252Cys)	JMJD8, STUB1 (Y180C +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 3171714	NM_005861.4(STUB1):c.658G>A (p.Glu220Lys)	JMJD8, STUB1 (E148K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3171713	NM_005861.4(STUB1):c.626C>T (p.Ala209Val)	JMJD8, STUB1 (A209V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3171712	NM_005861.4(STUB1):c.581G>A (p.Arg194Gln)	JMJD8, STUB1 (R194Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3112428	NM_001005920.4(JMJD8):c.34G>A (p.Ala12Thr)	JMJD8, LOC130058122 (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3112427	NM_001005920.4(JMJD8):c.777C>G (p.Ile259Met)	JMJD8 (I214M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112426	NM_001005920.4(JMJD8):c.768C>A (p.Ser256Arg)	JMJD8 (S226R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112425	NM_001005920.4(JMJD8):c.16C>G (p.Arg6Gly)	JMJD8, LOC130058122 (R6G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112424	NM_001005920.4(JMJD8):c.671C>T (p.Pro224Leu)	JMJD8 (P194L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112423	NM_001005920.4(JMJD8):c.5C>T (p.Ala2Val)	JMJD8 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112422	NM_001005920.4(JMJD8):c.626A>G (p.Asn209Ser)	JMJD8 (N179S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112421	NM_001005920.4(JMJD8):c.1A>G (p.Met1Val)	JMJD8 (M1V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112420	NM_001005920.4(JMJD8):c.547C>T (p.Pro183Ser)	JMJD8 (P153S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112419	NM_001005920.4(JMJD8):c.515C>G (p.Ala172Gly)	JMJD8 (A142G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112418	NM_001005920.4(JMJD8):c.448C>T (p.His150Tyr)	JMJD8 (H120Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112417	NM_001005920.4(JMJD8):c.398T>A (p.Leu133Gln)	JMJD8 (L133Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112416	NM_001005920.4(JMJD8):c.390T>G (p.Asn130Lys)	JMJD8 (N130K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112415	NM_001005920.4(JMJD8):c.305C>T (p.Thr102Ile)	JMJD8 (T102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063578	NM_005861.4(STUB1):c.876_887del (p.Phe293_Glu296del)	JMJD8, STUB1	Deletion (inframe_deletion +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 3062185	NM_005861.4(STUB1):c.669+2T>C	JMJD8, RHBDL1 +2 more	Single nucleotide variant (3 prime UTR variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 3027432	NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)	JMJD8, STUB1 (P171L +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48 +1 more	GConflicting classifications of pathogenicity
Select item 3019976	NM_005861.4(STUB1):c.669+5GT[3]	JMJD8, STUB1	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2995712	NM_005861.4(STUB1):c.787-16C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2992287	NM_005861.4(STUB1):c.525-4C>T	STUB1, JMJD8	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2990049	NM_005861.4(STUB1):c.525-19G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2967654	NM_005861.4(STUB1):c.670-20C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2965516	NM_005861.4(STUB1):c.525-17T>C	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2960693	NM_005861.4(STUB1):c.786+11C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2959210	NM_005861.4(STUB1):c.669+14G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2956318	NM_005861.4(STUB1):c.787-17C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2846333	NM_005861.4(STUB1):c.677A>G (p.Asp226Gly)	JMJD8, STUB1 (D226G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2796640	NM_005861.4(STUB1):c.612+16A>G	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2791695	NM_005861.4(STUB1):c.819C>T (p.Ser273=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2777378	NM_005861.4(STUB1):c.612+6_612+7delinsTT	JMJD8, STUB1	Indel (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2766222	NM_005861.4(STUB1):c.807C>T (p.Pro269=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2718919	NM_005861.4(STUB1):c.831G>A (p.Gln277=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2708089	NM_005861.4(STUB1):c.714G>A (p.Glu238=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2706655	NM_005861.4(STUB1):c.886G>C (p.Glu296Gln)	JMJD8, STUB1 (E296Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2696096	NM_005861.4(STUB1):c.669+9G>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2694750	NM_005861.4(STUB1):c.587A>G (p.Gln196Arg)	JMJD8, STUB1 (Q124R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2645850	NM_001005920.2(JMJD8):c.-6C>G	JMJD8	Single nucleotide variant	not provided	GLikely benign
Select item 2645849	NM_001005920.4(JMJD8):c.409G>C (p.Gly137Arg)	JMJD8 (G107R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2645848	NM_005861.4(STUB1):c.627G>A (p.Ala209=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2645847	NM_005861.4(STUB1):c.568G>A (p.Asp190Asn)	JMJD8, STUB1 (D118N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2645846	NM_005861.4(STUB1):c.552C>T (p.His184=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2637596	NC_000016.9:g.(?_730409)_(732802_?)dup	JMJD8, STUB1	Duplication	not specified	GUncertain significance
Select item 2623316	NM_001005920.4(JMJD8):c.92C>A (p.Pro31Gln)	JMJD8, LOC130058122 (P31Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2622044	NM_001005920.4(JMJD8):c.370G>C (p.Asp124His)	JMJD8 (D124H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616054	NM_001005920.4(JMJD8):c.196G>A (p.Val66Ile)	JMJD8 (V36I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594029	NM_001005920.4(JMJD8):c.683G>A (p.Arg228Gln)	JMJD8 (R198Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579395	NM_005861.4(STUB1):c.752C>A (p.Thr251Asn)	JMJD8, STUB1 (T179N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2570918	NM_005861.4(STUB1):c.771C>T (p.Ile257=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2568105	NM_001005920.4(JMJD8):c.434C>T (p.Ala145Val)	JMJD8 (A145V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549748	NM_001005920.4(JMJD8):c.182C>T (p.Ala61Val)	JMJD8 (A31V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539666	NM_001005920.4(JMJD8):c.734G>A (p.Arg245His)	JMJD8 (R200H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537617	NM_001005920.4(JMJD8):c.290T>C (p.Leu97Pro)	JMJD8 (L67P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528816	NM_001005920.4(JMJD8):c.730G>A (p.Asp244Asn)	JMJD8 (D199N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513293	NM_001005920.4(JMJD8):c.363C>A (p.His121Gln)	JMJD8 (H121Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513117	NM_001005920.4(JMJD8):c.395C>T (p.Thr132Ile)	JMJD8 (T102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504526	NM_005861.4(STUB1):c.636C>G (p.Asp212Glu)	JMJD8, STUB1 (D140E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2498635	NM_001005920.4(JMJD8):c.*300G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2495086	NM_001005920.4(JMJD8):c.155C>T (p.Thr52Ile)	JMJD8, LOC130058122 (T52I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472232	NM_001005920.4(JMJD8):c.445C>T (p.Arg149Trp)	JMJD8 (R149W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461785	NM_005861.4(STUB1):c.575A>G (p.His192Arg)	JMJD8, STUB1 (H192R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2457185	NM_001005920.4(JMJD8):c.575G>T (p.Arg192Leu)	JMJD8 (R162L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455843	NM_001005920.4(JMJD8):c.733C>T (p.Arg245Cys)	JMJD8 (R215C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443273	NM_005861.4(STUB1):c.786G>C (p.Gln262His)	JMJD8, STUB1 (Q190H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2417182	NM_005861.4(STUB1):c.870T>C (p.Ile290=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2414062	NM_005861.4(STUB1):c.854C>T (p.Ala285Val)	JMJD8, STUB1 (A213V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2401001	NM_001005920.4(JMJD8):c.404T>A (p.Phe135Tyr)	JMJD8 (F105Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394390	NM_001005920.4(JMJD8):c.134T>G (p.Val45Gly)	JMJD8, LOC130058122 (V45G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388478	NM_001005920.4(JMJD8):c.550G>A (p.Gly184Arg)	JMJD8 (G184R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370833	NM_001005920.4(JMJD8):c.608C>T (p.Thr203Met)	JMJD8 (T173M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361018	NM_001005920.4(JMJD8):c.67G>A (p.Ala23Thr)	JMJD8, LOC130058122 (A23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345209	NM_001005920.4(JMJD8):c.107C>T (p.Ala36Val)	JMJD8, LOC130058122 (A36V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285565	NM_001005920.4(JMJD8):c.97G>A (p.Gly33Arg)	JMJD8, LOC130058122 (G33R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253227	NM_001005920.4(JMJD8):c.732C>G (p.Asp244Glu)	JMJD8 (D214E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247926	NM_001005920.4(JMJD8):c.137A>G (p.Glu46Gly)	JMJD8, LOC130058122 (E46G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243562	NM_001005920.4(JMJD8):c.385G>A (p.Gly129Ser)	JMJD8 (G99S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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