"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "JMJD1C"[ge - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 460278	NM_032776.3(JMJD1C):c.7591G>A (p.Glu2531Lys)	JMJD1C (E2531K +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy +2 more	GLikely benign
Select item 2640507	NM_032776.3(JMJD1C):c.6628T>C (p.Ser2210Pro)	JMJD1C (S1922P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2640508	NM_032776.3(JMJD1C):c.6372T>G (p.Ser2124Arg)	JMJD1C (S1836R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 771275	NM_032776.3(JMJD1C):c.6292-3T>C	JMJD1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2640509	NM_032776.3(JMJD1C):c.6068A>T (p.Glu2023Val)	JMJD1C (E1735V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1384009	NM_032776.3(JMJD1C):c.5350A>G (p.Met1784Val)	JMJD1C (M1496V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 806481	NM_032776.3(JMJD1C):c.4852G>A (p.Ala1618Thr)	JMJD1C (A1436T +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy +1 more	GUncertain significance
Select item 2640510	NM_032776.3(JMJD1C):c.4847G>A (p.Arg1616Lys)	JMJD1C (R1328K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 460247	NM_032776.3(JMJD1C):c.4380T>C (p.Ser1460=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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 774013	NM_032776.3(JMJD1C):c.4209C>T (p.Ala1403=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy +2 more	GLikely benign
Select item 647014	NM_032776.3(JMJD1C):c.4069C>T (p.Pro1357Ser)	JMJD1C (P1069S +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 934965	NM_032776.3(JMJD1C):c.4009G>T (p.Ala1337Ser)	JMJD1C (A1049S +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy +1 more	GUncertain significance
Select item 756622	NM_032776.3(JMJD1C):c.3807A>G (p.Glu1269=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy +1 more	GBenign/Likely benign
Select item 460240	NM_032776.3(JMJD1C):c.3720T>A (p.Ala1240=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 707124	NM_032776.3(JMJD1C):c.2862T>C (p.His954=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 460234	NM_032776.3(JMJD1C):c.2832A>G (p.Pro944=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 460231	NM_032776.3(JMJD1C):c.2579A>G (p.Tyr860Cys)	JMJD1C (Y860C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2640511	NM_032776.3(JMJD1C):c.2475C>T (p.His825=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 529722	NM_032776.3(JMJD1C):c.2037T>C (p.His679=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 460226	NM_032776.3(JMJD1C):c.1949C>T (p.Thr650Ile)	JMJD1C (T650I +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy +1 more	GBenign
Select item 460217	NM_032776.3(JMJD1C):c.1392G>A (p.Ser464=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	Early myoclonic encephalopathy +2 more	GBenign/Likely benign
Select item 1058642	NM_032776.3(JMJD1C):c.1345C>T (p.Arg449Trp)	JMJD1C (R161W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 460210	NM_032776.3(JMJD1C):c.1103G>A (p.Arg368Gln)	JMJD1C (R368Q +4 more)	Single nucleotide variant (missense variant +1 more)	Early myoclonic encephalopathy +1 more	GBenign/Likely benign
Select item 846335	NM_032776.3(JMJD1C):c.389T>A (p.Phe130Tyr)	JMJD1C (F130Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	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

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Items: 27