"Ambry Genetics"[submitter] AND "JMJD8"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1909215	NM_005861.4(STUB1):c.553G>A (p.Glu185Lys)	JMJD8, STUB1 (E113K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	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 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 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 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 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 2221972	NM_001005920.4(JMJD8):c.749C>T (p.Thr250Met)	JMJD8 (T205M +2 more)	Single nucleotide variant (missense variant +2 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 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 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 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 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 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 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 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 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 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 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 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 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 2203887	NM_001005920.4(JMJD8):c.491C>T (p.Ala164Val)	JMJD8 (A134V +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 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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 2211480	NM_001005920.4(JMJD8):c.139C>T (p.Arg47Cys)	JMJD8, LOC130058122 (R47C)	Single nucleotide variant (missense variant +2 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 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 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 2210884	NM_001005920.4(JMJD8):c.101C>T (p.Pro34Leu)	JMJD8, LOC130058122 (P34L)	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 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 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 2209306	NM_001005920.4(JMJD8):c.62C>T (p.Ser21Phe)	JMJD8, LOC130058122 (S21F)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2241193	NM_001005920.4(JMJD8):c.16C>T (p.Arg6Trp)	JMJD8, LOC130058122 (R6W)	Single nucleotide variant (missense variant +1 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 3112421	NM_001005920.4(JMJD8):c.1A>G (p.Met1Val)	JMJD8 (M1V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 54