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Gene: CEP57 & Disease: MVA2, 1449 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
30691	CEP57	c.915_925dup11	--	NM_014679.5 M	Dup	P	3 +	4
	CEP57	c.915_925dup	p.Leu309fs (p.L309fs)	NM_014679.5 M	Dup	P	3 +	4
	CEP57	c.888_898dup	p.Leu300fs (p.L300fs)	NM_001243776.2	Dup	P	3 +	4
	CEP57	c.837_847dup	p.Leu283fs (p.L283fs)	NM_001243777.2	Dup	P	3 +	4
	CEP57	c.834_844dup	p.Leu282fs (p.L282fs)	NM_001363604.2	Dup	P	3 +	4
2161490	CEP57	c.46-2A>T	--	NM_014679.5 M	SNV	LP	1 +	3
	CEP57	c.-36-2A>T	--	NM_001363604.2	SNV	LP	1 +	3
	CEP57	c.19-2A>T	--	NM_001243776.2	SNV	LP	1 +	3
	CEP57	c.46-2A>T	--	NM_001243777.2	SNV	LP	1 +	3
950469	CEP57	c.100T>C	p.Ser34Pro (p.S34P)	NM_014679.5 M	SNV	VUS	1 +	2
1030345	CEP57	c.1015C>T	p.Arg339Ter (p.R339X)	NM_014679.5 M	SNV	P	1 +	2
1061100	CEP57	c.202+6C>T	--	NM_014679.5 M	SNV	VUS	1 +	2
696640	CEP57	c.764A>G	p.Asn255Ser (p.N255S)	NM_014679.5 M	SNV	LB	1 +	2
1515897	CEP57	c.504+5G>A	--	NM_014679.5 M	SNV	VUS	1 +	2
936628	CEP57	c.778A>T	p.Lys260Ter (p.K260X)	NM_014679.5 M	SNV	P	1 +	2
643769	CEP57	c.451C>T	p.Arg151Ter (p.R151X)	NM_014679.5 M	SNV	P	1 +	2
656154	CEP57	c.1272+4A>C	--	NM_014679.5 M	SNV	VUS	1 +	2
852794	CEP57	c.382+4T>C	--	NM_014679.5 M	SNV	VUS	1 +	2
574305	CEP57	c.1117C>T	p.Gln373Ter (p.Q373X)	NM_014679.5 M	SNV	P	1 +	2
408446	CEP57	c.572T>A	p.Leu191His (p.L191H)	NM_014679.5 M	SNV	VUS	1 +	2

1449 Results, 20 per Page

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