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Gene: CRYGD & Disease: CTRCT4, 50 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16937	CRYGD	c.43C>T	p.Arg15Cys (p.R15C)	NM_006891.4 M	SNV	P	1 +	8
16940	CRYGD	c.70C>A	p.Pro24Thr (p.P24T)	NM_006891.4 M	SNV	P	1 +	7
574060	CRYGD	c.418C>T	p.Arg140Ter (p.R140X)	NM_006891.4 M	SNV	P	1 +	6
1511929	CRYGD	c.471G>A	p.Trp157Ter (p.W157X)	NM_006891.4 M	SNV	LP	1 +	3
16942	CRYGD	c.70C>T	p.Pro24Ser (p.P24S)	NM_006891.4 M	SNV	P	1 +	2
16939	CRYGD	c.109C>A	p.Arg37Ser (p.R37S)	NM_006891.4 M	SNV	P	1 +	2
333874	CRYGD	c.168C>G	p.Tyr56Ter (p.Y56X)	NM_006891.4 M	SNV	LB	2 +	2
16938	CRYGD	c.176G>A	p.Arg59His (p.R59H)	NM_006891.4 M	SNV	P	1 +	2
16941	CRYGD	c.470G>A	p.Trp157Ter (p.W157X)	NM_006891.4 M	SNV	P	1 +	2
1047454	CRYGD	c.344G>A	p.Arg115His (p.R115H)	NM_006891.4 M	SNV	VUS	1 +	1
536129	CRYGD	c.155C>G	p.Ser52Trp (p.S52W)	NM_006891.4 M	SNV	VUS	1 +	1
68462	CRYGD	c.402C>A	p.Tyr134Ter (p.Y134X)	NM_006891.4 M	SNV	P	1 +	1
333878	CRYGD	c.-40C>T	--	NM_006891.4 M	SNV	B	1 +	0
898331	CRYGD	c.9+15C>T	--	NM_006891.4 M	SNV	B	1 +	0
1261000	CRYGD	c.9+20C>G	--	NM_006891.4 M	SNV	B	1 +	0
260063	CRYGD	c.9+20C>T	--	NM_006891.4 M	SNV	B	1 +	0
468228	CRYGD	c.22_26delinsCCTTGCAGATCAC	p.Glu8fs (p.E8fs)	NM_006891.4 M	Indel	VUS	1 +	0
895355	CRYGD	c.-33A>G	--	NM_006891.4 M	SNV	VUS	1 +	0
333876	CRYGD	c.10-7C>G	--	NM_006891.4 M	SNV	B	1 +	0
1358725	CRYGD	c.97T>C	p.Cys33Arg (p.C33R)	NM_006891.4 M	SNV	VUS	1 +	0

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