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Gene: RERE & Disease: NEDBEH, 314 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
418456	RERE	c.4313_4318dupTCCACC	--	NM_001042681.2 M	MS	P	2 +	3
	RERE	c.4307TCCACC[3]	p.1436LH[3]	NM_001042681.2 M	MS	P	2 +	3
	RERE	c.2645TCCACC[3]	p.882LH[3]	NM_001042682.2	MS	P	2 +	3
	RERE	c.4307TCCACC[3]	p.1436LH[3]	NM_012102.4	MS	P	2 +	3
224822	RERE	c.4293C>A	p.His1431Gln (p.H1431Q)	NM_001042681.2 M	SNV	P	1 +	2
	RERE	c.2631C>A	p.His877Gln (p.H877Q)	NM_001042682.2	SNV	P	1 +	2
	RERE	c.4293C>A	p.His1431Gln (p.H1431Q)	NM_012102.4	SNV	P	1 +	2
522858	RERE	c.4304A>G	p.His1435Arg (p.H1435R)	NM_001042681.2 M	SNV	P	1 +	1
236216	RERE	c.3466G>A	p.Gly1156Arg (p.G1156R)	NM_001042681.2 M	SNV	P	1 +	1
236217	RERE	c.3785C>G	p.Pro1262Arg (p.P1262R)	NM_001042681.2 M	SNV	P	1 +	1
236219	RERE	c.2249_2270dup	p.Thr758fs (p.T758fs)	NM_001042681.2 M	Dup	P	1 +	1
1805117	RERE	c.2629C>A	p.Gln877Lys (p.Q877K)	NM_001042681.2 M	SNV	VUS	1 +	1
986414	RERE	c.3466G>T	p.Gly1156Trp (p.G1156W)	NM_001042681.2 M	SNV	VUS	1 +	1
1699384	RERE	c.3136C>G	p.Pro1046Ala (p.P1046A)	NM_001042681.2 M	SNV	VUS	1 +	1
1806209	RERE	c.142A>G	p.Lys48Glu (p.K48E)	NM_001042681.2 M	SNV	LB	1 +	1
522858	RERE	c.2642A>G	p.His881Arg (p.H881R)	NM_001042682.2	SNV	P	1 +	1
522858	RERE	c.4304A>G	p.His1435Arg (p.H1435R)	NM_012102.4	SNV	P	1 +	1
236216	RERE	c.1804G>A	p.Gly602Arg (p.G602R)	NM_001042682.2	SNV	P	1 +	1
236216	RERE	c.3466G>A	p.Gly1156Arg (p.G1156R)	NM_012102.4	SNV	P	1 +	1
236217	RERE	c.2123C>G	p.Pro708Arg (p.P708R)	NM_001042682.2	SNV	P	1 +	1

314 Results, 20 per Page

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