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Gene: CRBN & Disease: MRT2, 24 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1821	CRBN	c.1255C>T	p.Arg419Ter (p.R419X)	NM_016302.4 M	SNV	P	1 +	5
1821	CRBN	c.1252C>T	p.Arg418Ter (p.R418X)	NM_001173482.1	SNV	P	1 +	5
209144	CRBN	c.1171T>C	p.Cys391Arg (p.C391R)	NM_016302.4 M	SNV	P	1 +	2
209144	CRBN	c.1168T>C	p.Cys390Arg (p.C390R)	NM_001173482.1	SNV	P	1 +	2
1032730	CRBN	c.29C>G	p.Ala10Gly (p.A10G)	NM_016302.4 M	SNV	VUS	1 +	0
1028016	CRBN	c.40A>T	p.Met14Leu (p.M14L)	NM_016302.4 M	SNV	VUS	1 +	0
2441986	CRBN	c.94G>A	p.Glu32Lys (p.E32K)	NM_016302.4 M	SNV	VUS	1 +	0
1321315	CRBN	c.129dup	p.Pro44fs (p.P44fs)	NM_016302.4 M	Dup	P	1 +	0
128855	CRBN	c.175-9T>C	--	NM_016302.4 M	SNV	B	1 +	0
1032731	CRBN	c.433C>T	p.Arg145Ter (p.R145X)	NM_016302.4 M	SNV	P	1 +	0
816985	CRBN	c.641C>G	p.Ser214Ter (p.S214X)	NM_016302.4 M	SNV	LP	1 +	0
128857	CRBN	c.735T>C	p.Tyr245= (p.Y245=)	NM_016302.4 M	SNV	LB	1 +	0
1255409	CRBN	c.750+32A>G	--	NM_016302.4 M	SNV	B	1 +	0
984705	CRBN	c.835+1G>A	--	NM_016302.4 M	SNV	P	1 +	0
1032730	CRBN	c.29C>G	p.Ala10Gly (p.A10G)	NM_001173482.1	SNV	VUS	1 +	0
1028016	CRBN	c.40A>T	p.Met14Leu (p.M14L)	NM_001173482.1	SNV	VUS	1 +	0
2441986	CRBN	c.91G>A	p.Glu31Lys (p.E31K)	NM_001173482.1	SNV	VUS	1 +	0
1321315	CRBN	c.126dup	p.Pro43fs (p.P43fs)	NM_001173482.1	Dup	P	1 +	0
128855	CRBN	c.172-9T>C	--	NM_001173482.1	SNV	B	1 +	0
1032731	CRBN	c.430C>T	p.Arg144Ter (p.R144X)	NM_001173482.1	SNV	P	1 +	0

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