Related gene-specific medical variations for Gene (Select 221037) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3009183	NM_032776.3(JMJD1C):c.68C>T (p.Ala23Val)	JMJD1C, JMJD1C-AS1 (A23V)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2998525	NM_032776.3(JMJD1C):c.11A>G (p.Glu4Gly)	JMJD1C, JMJD1C-AS1 (E4G)	Single nucleotide variant (intron variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2996020	NM_032776.3(JMJD1C):c.168+19C>T	JMJD1C, JMJD1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 2994582	NM_032776.3(JMJD1C):c.97_105del (p.Gly33_Arg35del)	JMJD1C, JMJD1C-AS1	Deletion (inframe_deletion +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2989978	NM_032776.3(JMJD1C):c.112C>T (p.Arg38Ter)	JMJD1C, JMJD1C-AS1 (R38*)	Single nucleotide variant (nonsense +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2915980	NM_032776.3(JMJD1C):c.10G>A (p.Glu4Lys)	JMJD1C, JMJD1C-AS1 (E4K)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2903594	NM_032776.3(JMJD1C):c.60C>T (p.Gly20=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 2897029	NM_032776.3(JMJD1C):c.75G>A (p.Ser25=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 2820560	NM_032776.3(JMJD1C):c.48T>C (p.Cys16=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 2717823	NM_032776.3(JMJD1C):c.162C>G (p.Asp54Glu)	JMJD1C-AS1, JMJD1C (D54E)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2689269	NM_032776.3(JMJD1C):c.2071A>G (p.Thr691Ala)	JMJD1C (T403A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685379	GRCh37/hg19 10q21.3(chr10:65006549-65193646)x1	JMJD1C	Copy number loss	not provided	GUncertain significance
Select item 2672227	NM_032776.3(JMJD1C):c.6745C>T (p.Gln2249Ter)	JMJD1C (Q1961* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2640512	NM_032776.3(JMJD1C):c.105A>C (p.Arg35=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2190514	NM_032776.3(JMJD1C):c.74C>T (p.Ser25Leu)	JMJD1C, JMJD1C-AS1 (S25L)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2168214	NM_032776.3(JMJD1C):c.117G>C (p.Ala39=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 2147639	NM_032776.3(JMJD1C):c.168+18C>T	JMJD1C, JMJD1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 2139627	NM_032776.3(JMJD1C):c.71G>A (p.Arg24His)	JMJD1C, JMJD1C-AS1 (R24H)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 2073591	NM_032776.3(JMJD1C):c.27G>A (p.Leu9=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 2060017	NM_032776.3(JMJD1C):c.163C>A (p.Leu55Met)	JMJD1C, JMJD1C-AS1 (L55M)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1973250	NM_032776.3(JMJD1C):c.25C>T (p.Leu9=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1969960	NM_032776.3(JMJD1C):c.80G>T (p.Arg27Leu)	JMJD1C, JMJD1C-AS1 (R27L)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1957530	NM_032776.3(JMJD1C):c.168+20C>G	JMJD1C, JMJD1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1952153	NM_032776.3(JMJD1C):c.151C>T (p.Arg51Cys)	JMJD1C, JMJD1C-AS1 (R51C)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1809060	GRCh37/hg19 10q21.3(chr10:64995874-65166892)x1	JMJD1C	Copy number loss	not provided	GUncertain significance
Select item 1714773	NM_032776.3(JMJD1C):c.92G>T (p.Gly31Val)	JMJD1C, JMJD1C-AS1 (G31V)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1531359	NM_032776.3(JMJD1C):c.147C>T (p.Asp49=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1498820	NM_032776.3(JMJD1C):c.67G>A (p.Ala23Thr)	JMJD1C, JMJD1C-AS1 (A23T)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1490457	NM_032776.3(JMJD1C):c.61G>A (p.Asp21Asn)	JMJD1C, JMJD1C-AS1 (D21N)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1423924	NM_032776.3(JMJD1C):c.168+1G>T	JMJD1C, JMJD1C-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1381233	NM_032776.3(JMJD1C):c.106_114dup (p.Ser36_Arg38dup)	JMJD1C, JMJD1C-AS1	Duplication (intron variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1380774	NM_032776.3(JMJD1C):c.103C>T (p.Arg35Ter)	JMJD1C, JMJD1C-AS1 (R35*)	Single nucleotide variant (nonsense +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1342442	NM_032776.3(JMJD1C):c.2882A>G (p.Lys961Arg)	JMJD1C (K673R +4 more)	Single nucleotide variant (missense variant +1 more)	JMJD1C-associated Neurodevelopmental Disorder	GUncertain significance
Select item 1342382	NM_032776.3(JMJD1C):c.6410A>C (p.Glu2137Ala)	JMJD1C (E1849A +4 more)	Single nucleotide variant (missense variant +1 more)	JMJD1C-associated Neurodevelopmental Disorder	GUncertain significance
Select item 1325539	NM_032776.3(JMJD1C):c.5660C>G (p.Ala1887Gly)	JMJD1C (A1599G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1170745	NM_032776.3(JMJD1C):c.168+11C>G	JMJD1C, JMJD1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early myoclonic encephalopathy +1 more	GBenign
Select item 1164927	NM_032776.3(JMJD1C):c.168+10T>C	JMJD1C, JMJD1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1154092	NM_032776.3(JMJD1C):c.66G>A (p.Glu22=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1144491	NM_032776.3(JMJD1C):c.123C>T (p.Val41=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1130167	NM_032776.3(JMJD1C):c.27G>C (p.Leu9=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1130050	NM_032776.3(JMJD1C):c.168+10del	JMJD1C, JMJD1C-AS1	Deletion (non-coding transcript variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1098695	NM_032776.3(JMJD1C):c.3779C>G (p.Ser1260Cys)	JMJD1C (S1041C +4 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1091972	NM_032776.3(JMJD1C):c.57C>T (p.Val19=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1088006	NM_032776.3(JMJD1C):c.120G>T (p.Gly40=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 1053285	NM_032776.3(JMJD1C):c.95G>A (p.Arg32His)	JMJD1C, JMJD1C-AS1 (R32H)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 1023568	NM_032776.3(JMJD1C):c.5C>T (p.Ala2Val)	JMJD1C, JMJD1C-AS1 (A2V)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy +1 more	GUncertain significance
Select item 1003906	NM_032776.3(JMJD1C):c.161A>C (p.Asp54Ala)	JMJD1C, JMJD1C-AS1 (D54A)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 970281	NM_032776.3(JMJD1C):c.168+5G>A	JMJD1C, JMJD1C-AS1	Single nucleotide variant (intron variant +1 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 970157	NM_032776.3(JMJD1C):c.152G>T (p.Arg51Leu)	JMJD1C, JMJD1C-AS1 (R51L)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy +1 more	GUncertain significance
Select item 969900	NM_032776.3(JMJD1C):c.64G>A (p.Glu22Lys)	JMJD1C, JMJD1C-AS1 (E22K)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 954559	NM_032776.3(JMJD1C):c.17G>A (p.Arg6Gln)	JMJD1C, JMJD1C-AS1 (R6Q)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 952713	NM_032776.3(JMJD1C):c.38G>A (p.Arg13Gln)	JMJD1C, JMJD1C-AS1 (R13Q)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 951438	NM_032776.3(JMJD1C):c.162C>A (p.Asp54Glu)	JMJD1C-AS1, JMJD1C (D54E)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 946146	NM_032776.3(JMJD1C):c.157C>T (p.Pro53Ser)	JMJD1C-AS1, JMJD1C (P53S)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 945622	NM_032776.3(JMJD1C):c.89G>A (p.Ser30Asn)	JMJD1C, JMJD1C-AS1 (S30N)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 939376	NM_032776.3(JMJD1C):c.74C>G (p.Ser25Trp)	JMJD1C, JMJD1C-AS1 (S25W)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 938702	NM_032776.3(JMJD1C):c.77A>C (p.Glu26Ala)	JMJD1C-AS1, JMJD1C (E26A)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 872696	NM_032776.3(JMJD1C):c.6415C>A (p.Pro2139Thr)	JMJD1C (P1957T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 859931	NM_032776.3(JMJD1C):c.43C>G (p.Leu15Val)	JMJD1C, JMJD1C-AS1 (L15V)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 852901	NM_032776.3(JMJD1C):c.80_81delinsAT (p.Arg27His)	JMJD1C, JMJD1C-AS1 (R27H)	Indel (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 851386	NM_032776.3(JMJD1C):c.4G>A (p.Ala2Thr)	JMJD1C, JMJD1C-AS1 (A2T)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 842120	NM_032776.3(JMJD1C):c.157C>G (p.Pro53Ala)	JMJD1C, JMJD1C-AS1 (P53A)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 815354	GRCh37/hg19 10q21.3(chr10:65143561-65193646)x1	JMJD1C	Copy number loss	not provided	GLikely benign
Select item 806482	NM_032776.3(JMJD1C):c.4280C>T (p.Ser1427Phe)	JMJD1C (S1245F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 783186	NM_032776.3(JMJD1C):c.18G>A (p.Arg6=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GBenign
Select item 747234	NM_032776.3(JMJD1C):c.168+9G>A	JMJD1C, JMJD1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	JMJD1C-related condition +1 more	GLikely benign
Select item 744436	NM_032776.3(JMJD1C):c.18G>C (p.Arg6=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 725210	NM_032776.3(JMJD1C):c.168+9_168+11delinsACG	JMJD1C, JMJD1C-AS1	Indel (non-coding transcript variant +1 more)	Early myoclonic encephalopathy	GLikely benign
Select item 707342	NM_032776.3(JMJD1C):c.45G>C (p.Leu15=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 685931	GRCh37/hg19 10q21.3(chr10:64942071-64981389)x1	JMJD1C	Copy number loss	not provided	GUncertain significance
Select item 685356	GRCh37/hg19 10q21.3(chr10:65101267-65249694)x1	JMJD1C	Copy number loss	not provided	GUncertain significance
Select item 662424	NM_032776.3(JMJD1C):c.71G>T (p.Arg24Leu)	JMJD1C, JMJD1C-AS1 (R24L)	Single nucleotide variant (missense variant +2 more)	Early myoclonic encephalopathy	GUncertain significance
Select item 569840	NM_032776.3(JMJD1C):c.58G>A (p.Gly20Ser)	JMJD1C-AS1, JMJD1C (G20S)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 529730	NM_032776.3(JMJD1C):c.159G>A (p.Pro53=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 529725	NM_032776.3(JMJD1C):c.72T>C (p.Arg24=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 460261	NM_032776.3(JMJD1C):c.56T>A (p.Val19Asp)	JMJD1C, JMJD1C-AS1 (V19D)	Single nucleotide variant (missense variant +2 more)	JMJD1C-related condition +1 more	GBenign/Likely benign
Select item 460251	NM_032776.3(JMJD1C):c.45G>A (p.Leu15=)	JMJD1C, JMJD1C-AS1	Single nucleotide variant (synonymous variant +2 more)	Early myoclonic encephalopathy	GLikely benign
Select item 460222	NM_032776.3(JMJD1C):c.168+10_168+11delinsCG	JMJD1C, JMJD1C-AS1	Indel (non-coding transcript variant +1 more)	Early myoclonic encephalopathy	GBenign

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Items: 78