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Gene: RPGRIP1L & Disease: COACH3, 637 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1069	RPGRIP1L	c.1843A>C	p.Thr615Pro (p.T615P)	NM_015272.5 M	SNV	P	5 +	7
	RPGRIP1L	c.1843A>C	p.Thr615Pro (p.T615P)	NM_001127897.4	SNV	P	5 +	7
	RPGRIP1L	c.1843A>C	p.Thr615Pro (p.T615P)	NM_001308334.3	SNV	P	5 +	7
	RPGRIP1L	c.1843A>C	p.Thr615Pro (p.T615P)	NM_001330538.2	SNV	P	5 +	7
1079	RPGRIP1L	c.2413C>T	p.Arg805Ter (p.R805X)	NM_015272.5 M	SNV	P	5 +	3
235636	RPGRIP1L	c.3706C>T	p.Arg1236Cys (p.R1236C)	NM_015272.5 M	SNV	VUS	6 +	3
1079	RPGRIP1L	c.2413C>T	p.Arg805Ter (p.R805X)	NM_001127897.4	SNV	P	5 +	3
	RPGRIP1L	c.2413C>T	p.Arg805Ter (p.R805X)	NM_001308334.3	SNV	P	5 +	3
	RPGRIP1L	c.2413C>T	p.Arg805Ter (p.R805X)	NM_001330538.2	SNV	P	5 +	3
235636	RPGRIP1L	c.3466C>T	p.Arg1156Cys (p.R1156C)	NM_001127897.4	SNV	VUS	6 +	3
	RPGRIP1L	c.3568C>T	p.Arg1190Cys (p.R1190C)	NM_001308334.3	SNV	VUS	6 +	3
	RPGRIP1L	c.3604C>T	p.Arg1202Cys (p.R1202C)	NM_001330538.2	SNV	VUS	6 +	3
1089048	RPGRIP1L	c.706T>C	p.Leu236= (p.L236=)	NM_015272.5 M	SNV	LB	5 +	2
933535	RPGRIP1L	c.1333A>G	p.Ile445Val (p.I445V)	NM_015272.5 M	SNV	VUS	5 +	2
884393	RPGRIP1L	c.3769G>A	p.Val1257Met (p.V1257M)	NM_015272.5 M	SNV	VUS	5 +	2
1351355	RPGRIP1L	c.2118A>C	p.Lys706Asn (p.K706N)	NM_015272.5 M	SNV	VUS	5 +	2
1097402	RPGRIP1L	c.3616+9G>T	--	NM_015272.5 M	SNV	LB	5 +	2
696023	RPGRIP1L	c.2448G>A	p.Val816= (p.V816=)	NM_015272.5 M	SNV	LB	5 +	2
450277	RPGRIP1L	c.1061A>G	p.Glu354Gly (p.E354G)	NM_015272.5 M	SNV	VUS	5 +	2
1523470	RPGRIP1L	c.3449G>A	p.Arg1150Gln (p.R1150Q)	NM_015272.5 M	SNV	VUS	5 +	2

637 Results, 20 per Page

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