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Gene: CEP85L & Disease: LIS10, 59 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1406145	CEP85L	c.173G>A	p.Ser58Asn (p.S58N)	NM_001042475.3 M	SNV	P	1 +	2
872890	CEP85L	c.193G>A	p.Asp65Asn (p.D65N)	NM_001042475.3 M	SNV	P	1 +	2
872892	CEP85L	c.232+3G>T	--	NM_001042475.3 M	SNV	P	1 +	2
1406145	CEP85L	c.182G>A	p.Ser61Asn (p.S61N)	NM_001178035.2	SNV	P	1 +	2
1406145	CEP85L	c.173G>A	p.Ser58Asn (p.S58N)	NM_206921.3	SNV	P	1 +	2
872890	CEP85L	c.202G>A	p.Asp68Asn (p.D68N)	NM_001178035.2	SNV	P	1 +	2
872890	CEP85L	c.193G>A	p.Asp65Asn (p.D65N)	NM_206921.3	SNV	P	1 +	2
872892	CEP85L	c.241+3G>T	--	NM_001178035.2	SNV	P	1 +	2
872892	CEP85L	c.232+3G>T	--	NM_206921.3	SNV	P	1 +	2
438602	CEP85L	c.182C>T	p.Ser61Phe (p.S61F)	NM_001042475.3 M	SNV	VUS	2 +	1
403328	CEP85L	c.1020+17269T>G	--	NM_001042475.3 M	SNV	P	2 +	1
872889	CEP85L	c.1T>C	--	NM_001042475.3 M	SNV	P	1 +	1
872889	CEP85L	c.2T>C	p.Met1Thr (p.M1T)	NM_001042475.3 M	SNV	P	1 +	1
872891	CEP85L	c.203T>C	p.Ile68Thr (p.I68T)	NM_001042475.3 M	SNV	P	1 +	1
872893	CEP85L	c.232+5G>A	--	NM_001042475.3 M	SNV	P	1 +	1
438602	CEP85L	c.191C>T	p.Ser64Phe (p.S64F)	NM_001178035.2	SNV	VUS	2 +	1
438602	CEP85L	c.182C>T	p.Ser61Phe (p.S61F)	NM_206921.3	SNV	VUS	2 +	1
403328	CEP85L	c.1029+17269T>G	--	NM_001178035.2	SNV	P	2 +	1
403328	CEP85L	c.1020+17269T>G	--	NM_206921.3	SNV	P	2 +	1
872889	CEP85L	c.2T>C	p.Met1Thr (p.M1T)	NM_206921.3	SNV	P	1 +	1

59 Results, 20 per Page

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