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Gene: CRYGS & Disease: CTRCT20, 22 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
617600	CRYGS	c.116C>G	p.Ser39Cys (p.S39C)	NM_017541.4 M	SNV	P	1 +	1
617601	CRYGS	c.124G>A	p.Val42Met (p.V42M)	NM_017541.4 M	SNV	P	1 +	1
1806343	CRYGS	c.421G>T	p.Glu141Ter (p.E141X)	NM_017541.4 M	SNV	VUS	1 +	1
1485465	CRYGS	c.62A>G	p.Tyr21Cys (p.Y21C)	NM_017541.4 M	SNV	VUS	1 +	1
16936	CRYGS	c.53G>T	p.Gly18Val (p.G18V)	NM_017541.4 M	SNV	P	3 +	1
1415793	CRYGS	c.215G>A	p.Arg72His (p.R72H)	NM_017541.4 M	SNV	LB	1 +	1
2440576	CRYGS	c.436C>T	p.Arg146Cys (p.R146C)	NM_017541.4 M	SNV	VUS	1 +	0
851976	CRYGS	c.299A>C	p.Glu100Ala (p.E100A)	NM_017541.4 M	SNV	VUS	1 +	0
530955	CRYGS	c.24T>A	p.Ile8= (p.I8=)	NM_017541.4 M	SNV	B	1 +	0
1400078	CRYGS	c.236G>A	p.Arg79His (p.R79H)	NM_017541.4 M	SNV	VUS	1 +	0
2197267	CRYGS	c.107G>A	p.Arg36His (p.R36H)	NM_017541.4 M	SNV	VUS	1 +	0
1446817	CRYGS	c.32A>G	p.Tyr11Cys (p.Y11C)	NM_017541.4 M	SNV	VUS	1 +	0
1358112	CRYGS	c.224G>A	p.Gly75Asp (p.G75D)	NM_017541.4 M	SNV	VUS	1 +	0
1009187	CRYGS	c.247T>C	p.Cys83Arg (p.C83R)	NM_017541.4 M	SNV	VUS	1 +	0
1492005	CRYGS	c.269G>C	p.Ser90Thr (p.S90T)	NM_017541.4 M	SNV	VUS	1 +	0
1574568	CRYGS	c.265-12G>A	--	NM_017541.4 M	SNV	LB	1 +	0
1207340	CRYGS	c.306G>A	p.Gly102= (p.G102=)	NM_017541.4 M	SNV	LB	1 +	0
1013944	CRYGS	c.248G>A	p.Cys83Tyr (p.C83Y)	NM_017541.4 M	SNV	VUS	1 +	0
702786	CRYGS	c.39C>A	p.Asp13Glu (p.D13E)	NM_017541.4 M	SNV	B	1 +	0
1169999	CRYGS	c.294C>A	p.Ile98= (p.I98=)	NM_017541.4 M	SNV	B	1 +	0

22 Results, 20 per Page

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