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Mutation Direct

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Gene: CEP135 & Disease: MCPH8, 23 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
977828	CEP135	c.3211A>T	p.Lys1071Ter (p.K1071X)	NM_025009.5 M	SNV	P	1 +	3
982087	CEP135	c.2722C>T	p.Arg908Ter (p.R908X)	NM_025009.5 M	SNV	P	1 +	3
518356	CEP135	c.874C>T	p.Arg292Ter (p.R292X)	NM_025009.5 M	SNV	P	1 +	2
1012269	CEP135	c.1376_1379del	p.Lys459fs (p.K459fs)	NM_025009.5 M	MS	P	1 +	1
31661	CEP135	c.970del	p.Gln324fs (p.Q324fs)	NM_025009.5 M	Del	P	1 +	1
694015	CEP135	c.993A>T	p.Arg331Ser (p.R331S)	NM_025009.5 M	SNV	LB	1 +	1
417785	CEP135	c.1473+1G>A	--	NM_025009.5 M	SNV	P	1 +	1
1032208	CEP135	c.231A>C	p.Arg77Ser (p.R77S)	NM_025009.5 M	SNV	VUS	1 +	0
1032209	CEP135	c.575A>T	p.Asp192Val (p.D192V)	NM_025009.5 M	SNV	VUS	1 +	0
1526125	CEP135	c.3118_3121del	p.Asn1040fs (p.N1040fs)	NM_025009.5 M	Del	P	1 +	0
1012268	CEP135	c.2863C>T	p.Arg955Ter (p.R955X)	NM_025009.5 M	SNV	P	1 +	0
2439903	CEP135	c.1824A>C	p.Lys608Asn (p.K608N)	NM_025009.5 M	SNV	VUS	1 +	0
1028863	CEP135	c.3346C>T	p.Arg1116Ter (p.R1116X)	NM_025009.5 M	SNV	VUS	1 +	0
977859	CEP135	c.3215+2T>C	--	NM_025009.5 M	SNV	LP	1 +	0
977880	CEP135	c.2389C>T	p.Arg797Cys (p.R797C)	NM_025009.5 M	SNV	LB	1 +	0
1324049	CEP135	c.3102del	p.Glu1034fs (p.E1034fs)	NM_025009.5 M	Del	LP	1 +	0
433185	CEP135	c.2930_2931del	p.Leu977fs (p.L977fs)	NM_025009.5 M	Del	P	1 +	0
1705518	CEP135	c.3129_3132del	p.Lys1043fs (p.K1043fs)	NM_025009.5 M	Del	LP	1 +	0
198263	CEP135	c.638T>C	p.Val213Ala (p.V213A)	NM_025009.5 M	SNV	LB	1 +	0
720572	CEP135	c.2971A>G	p.Met991Val (p.M991V)	NM_025009.5 M	SNV	LB	1 +	0

23 Results, 20 per Page

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