JMJD1C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 3042537	NM_032776.3(JMJD1C):c.9_10del	JMJD1C	Deletion (3 prime UTR variant +1 more)	JMJD1C-related disorder	GLikely benign
Select item 946165	NM_032776.3(JMJD1C):c.7621T>G (p.Ter2541Glu)	JMJD1C	Single nucleotide variant (stop lost +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1096556	NM_032776.3(JMJD1C):c.7620T>C (p.Asn2540=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 573448	NM_032776.3(JMJD1C):c.7612G>C (p.Glu2538Gln)	JMJD1C (E2538Q +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1167960	NM_032776.3(JMJD1C):c.7605G>C (p.Glu2535Asp)	JMJD1C (E2497D +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GBenign
Select item 1043158	NM_032776.3(JMJD1C):c.7600G>C (p.Val2534Leu)	JMJD1C (V2352L +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 943921	NM_032776.3(JMJD1C):c.7594G>T (p.Asp2532Tyr)	JMJD1C (D2494Y +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 460279	NM_032776.3(JMJD1C):c.7593G>A (p.Glu2531=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GBenign
Select item 460278	NM_032776.3(JMJD1C):c.7591G>A (p.Glu2531Lys)	JMJD1C (E2531K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 1655713	NM_032776.3(JMJD1C):c.7590C>T (p.His2530=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	JMJD1C-related disorder +1 more	GLikely benign
Select item 1043582	NM_032776.3(JMJD1C):c.7588C>A (p.His2530Asn)	JMJD1C (H2311N +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2889879	NM_032776.3(JMJD1C):c.7583_7585del (p.Lys2528del)	JMJD1C (K2346del +4 more)	Deletion (inframe_deletion +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2572345	NM_032776.3(JMJD1C):c.7576G>C (p.Ala2526Pro)	JMJD1C (A2238P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2199827	NM_032776.3(JMJD1C):c.7534G>A (p.Val2512Ile)	JMJD1C (V2330I +4 more)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1101954	NM_032776.3(JMJD1C):c.7534-9C>A	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2744830	NM_032776.3(JMJD1C):c.7534-12C>T	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2027911	NM_032776.3(JMJD1C):c.7534-12del	JMJD1C	Deletion (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1915296	NM_032776.3(JMJD1C):c.7534-14A>G	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2120872	NM_032776.3(JMJD1C):c.7534-16T>C	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1488327	NM_032776.3(JMJD1C):c.7533+17C>T	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1505550	NM_032776.3(JMJD1C):c.7533+4A>G	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 3006378	NM_032776.3(JMJD1C):c.7533+3A>G	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2047430	NM_032776.3(JMJD1C):c.7520A>T (p.Asp2507Val)	JMJD1C (D2288V +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1143121	NM_032776.3(JMJD1C):c.7518T>C (p.Tyr2506=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 847241	NM_032776.3(JMJD1C):c.7509A>C (p.Glu2503Asp)	JMJD1C (E2215D +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 861260	NM_032776.3(JMJD1C):c.7501_7503dup (p.Lys2501dup)	JMJD1C	Duplication (inframe_insertion +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 707388	NM_032776.3(JMJD1C):c.7503G>A (p.Lys2501=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1002232	NM_032776.3(JMJD1C):c.7495C>A (p.Leu2499Ile)	JMJD1C (L2211I +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 795246	NM_032776.3(JMJD1C):c.7477T>C (p.Leu2493=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 656032	NM_032776.3(JMJD1C):c.7462G>A (p.Val2488Ile)	JMJD1C (V2269I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1129524	NM_032776.3(JMJD1C):c.7440T>C (p.Asp2480=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 664013	NM_032776.3(JMJD1C):c.7433C>T (p.Thr2478Ile)	JMJD1C (T2440I +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 961563	NM_032776.3(JMJD1C):c.7423A>G (p.Ile2475Val)	JMJD1C (I2437V +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 948948	NM_032776.3(JMJD1C):c.7402G>A (p.Val2468Ile)	JMJD1C (V2249I +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1984916	NM_032776.3(JMJD1C):c.7402-14dup	JMJD1C	Duplication (intron variant)	Early myoclonic encephalopathy	GBenign
Select item 1661035	NM_032776.3(JMJD1C):c.7402-19dup	JMJD1C	Duplication (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1576846	NM_032776.3(JMJD1C):c.7401+16T>C	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1620227	NM_032776.3(JMJD1C):c.7401+13T>C	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GBenign
Select item 1531672	NM_032776.3(JMJD1C):c.7401+12C>T	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2022015	NM_032776.3(JMJD1C):c.7401+3A>G	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 945595	NM_032776.3(JMJD1C):c.7386G>A (p.Ala2462=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 640719	NM_032776.3(JMJD1C):c.7374T>A (p.Ile2458=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 655855	NM_032776.3(JMJD1C):c.7372A>G (p.Ile2458Val)	JMJD1C (I2420V +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1055201	NM_032776.3(JMJD1C):c.7363G>A (p.Gly2455Ser)	JMJD1C (G2167S +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1089610	NM_032776.3(JMJD1C):c.7359C>T (p.Phe2453=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1362939	NM_032776.3(JMJD1C):c.7348C>G (p.Leu2450Val)	JMJD1C (L2162V +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1038217	NM_032776.3(JMJD1C):c.7328A>G (p.Tyr2443Cys)	JMJD1C (Y2155C +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 572334	NM_032776.3(JMJD1C):c.7303C>T (p.Leu2435Phe)	JMJD1C (L2435F +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2244221	NM_032776.3(JMJD1C):c.7273C>T (p.Arg2425Cys)	JMJD1C (R2243C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 662693	NM_032776.3(JMJD1C):c.7273C>G (p.Arg2425Gly)	JMJD1C (R2425G +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1024401	NM_032776.3(JMJD1C):c.7270A>G (p.Ile2424Val)	JMJD1C (I2136V +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1673849	NM_032776.3(JMJD1C):c.7254A>G (p.Leu2418=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1094754	NM_032776.3(JMJD1C):c.7230A>G (p.Ser2410=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 2810389	NM_032776.3(JMJD1C):c.7227T>C (p.Ile2409=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1321947	NM_032776.3(JMJD1C):c.7225-2A>G	JMJD1C	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2145073	NM_032776.3(JMJD1C):c.7224+14T>C	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2048073	NM_032776.3(JMJD1C):c.7224+6A>C	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2745618	NM_032776.3(JMJD1C):c.7219C>A (p.Gln2407Lys)	JMJD1C (Q2119K +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 460277	NM_032776.3(JMJD1C):c.7200C>G (p.Asp2400Glu)	JMJD1C (D2400E +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GBenign
Select item 657114	NM_032776.3(JMJD1C):c.7195G>A (p.Val2399Ile)	JMJD1C (V2361I +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1939860	NM_032776.3(JMJD1C):c.7191A>G (p.Lys2397=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1685317	NM_032776.3(JMJD1C):c.7168C>G (p.Leu2390Val)	JMJD1C (L2102V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 939734	NM_032776.3(JMJD1C):c.7159C>G (p.Pro2387Ala)	JMJD1C (P2099A +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy +1 more	GUncertain significance
Select item 1015787	NM_032776.3(JMJD1C):c.7152T>A (p.Ser2384Arg)	JMJD1C (S2096R +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2065229	NM_032776.3(JMJD1C):c.7138T>C (p.Leu2380=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1103800	NM_032776.3(JMJD1C):c.7134A>G (p.Lys2378=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1506057	NM_032776.3(JMJD1C):c.7123A>G (p.Ile2375Val)	JMJD1C (I2156V +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 731758	NM_032776.3(JMJD1C):c.7114T>C (p.Leu2372=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 947361	NM_032776.3(JMJD1C):c.7101T>A (p.Phe2367Leu)	JMJD1C (F2079L +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1101794	NM_032776.3(JMJD1C):c.7092C>G (p.Leu2364=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 3013658	NM_032776.3(JMJD1C):c.7085-9T>G	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2910057	NM_032776.3(JMJD1C):c.7085-16T>C	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1910464	NM_032776.3(JMJD1C):c.7084+12A>G	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1010927	NM_032776.3(JMJD1C):c.7084+3_7084+4dup	JMJD1C	Duplication (intron variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 950547	NM_032776.3(JMJD1C):c.7075T>C (p.Ser2359Pro)	JMJD1C (S2321P +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1158606	NM_032776.3(JMJD1C):c.7074C>T (p.Leu2358=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1035063	NM_032776.3(JMJD1C):c.7070T>G (p.Ile2357Ser)	JMJD1C (I2138S +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 837813	NM_032776.3(JMJD1C):c.7018T>G (p.Ser2340Ala)	JMJD1C (S2158A +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 460275	NM_032776.3(JMJD1C):c.6989T>C (p.Ile2330Thr)	JMJD1C (I2330T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 958285	NM_032776.3(JMJD1C):c.6982C>G (p.His2328Asp)	JMJD1C (H2146D +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1482538	NM_032776.3(JMJD1C):c.6978A>T (p.Lys2326Asn)	JMJD1C (K2038N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1568465	NM_032776.3(JMJD1C):c.6962-20A>C	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1536176	NM_032776.3(JMJD1C):c.6961+14C>T	JMJD1C	Single nucleotide variant (intron variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2004355	NM_032776.3(JMJD1C):c.6959A>G (p.Tyr2320Cys)	JMJD1C (Y2282C +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1553137	NM_032776.3(JMJD1C):c.6951C>T (p.Cys2317=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 460274	NM_032776.3(JMJD1C):c.6948G>A (p.Leu2316=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy +1 more	GBenign
Select item 1034630	NM_032776.3(JMJD1C):c.6926G>A (p.Arg2309His)	JMJD1C (R2021H +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 938630	NM_032776.3(JMJD1C):c.6925C>T (p.Arg2309Cys)	JMJD1C (R2090C +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 940924	NM_032776.3(JMJD1C):c.6922G>C (p.Val2308Leu)	JMJD1C (V2126L +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 764860	NM_032776.3(JMJD1C):c.6912A>G (p.Pro2304=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1126184	NM_032776.3(JMJD1C):c.6909G>A (p.Leu2303=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 2145294	NM_032776.3(JMJD1C):c.6902C>G (p.Ser2301Cys)	JMJD1C (S2082C +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 653270	NM_032776.3(JMJD1C):c.6891C>G (p.Phe2297Leu)	JMJD1C (F2297L +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 736989	NM_032776.3(JMJD1C):c.6888A>G (p.Lys2296=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy	GLikely benign

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