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Gene: CUL3 & Disease: PHA1A, 219 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
334633	CUL3	c.600C>G	p.Val200= (p.V200=)	NM_003590.5 M	SNV	LB	2 +	1
559557	CUL3	c.173A>G	p.Tyr58Cys (p.Y58C)	NM_003590.5 M	SNV	P	2 +	1
334633	CUL3	c.402C>G	p.Val134= (p.V134=)	NM_001257197.2	SNV	LB	2 +	1
334633	CUL3	c.618C>G	p.Val206= (p.V206=)	NM_001257198.2	SNV	LB	2 +	1
559557	CUL3	c.191A>G	p.Tyr64Cys (p.Y64C)	NM_001257198.2	SNV	P	2 +	1
559557	CUL3	c.67-22109A>G	--	NM_001257197.2	SNV	P	2 +	1
334603	CUL3	c.*2130A>G	--	NM_003590.5 M	SNV	LB	2 +	0
334634	CUL3	c.310A>T	p.Thr104Ser (p.T104S)	NM_003590.5 M	SNV	VUS	2 +	0
334635	CUL3	c.304C>A	p.Leu102Ile (p.L102I)	NM_003590.5 M	SNV	VUS	2 +	0
334636	CUL3	c.264+9C>T	--	NM_003590.5 M	SNV	LB	3 +	0
334632	CUL3	c.693A>C	p.Ser231= (p.S231=)	NM_003590.5 M	SNV	LB	2 +	0
334631	CUL3	c.883+13G>C	--	NM_003590.5 M	SNV	LB	3 +	0
259090	CUL3	c.1485+13G>A	--	NM_003590.5 M	SNV	B	2 +	0
334630	CUL3	c.1581A>T	p.Ala527= (p.A527=)	NM_003590.5 M	SNV	LB	3 +	0
259091	CUL3	c.1699G>A	p.Val567Ile (p.V567I)	NM_003590.5 M	SNV	B	2 +	0
334629	CUL3	c.1708-14del	--	NM_003590.5 M	Del	LB	1 +	0
259092	CUL3	c.1992A>G	p.Gln664= (p.Q664=)	NM_003590.5 M	SNV	B	2 +	0
334628	CUL3	c.2029+14T>C	--	NM_003590.5 M	SNV	LB	3 +	0
334627	CUL3	c.2052C>T	p.Ser684= (p.S684=)	NM_003590.5 M	SNV	LB	3 +	0
334626	CUL3	c.2102A>T	p.His701Leu (p.H701L)	NM_003590.5 M	SNV	VUS	1 +	0

219 Results, 20 per Page

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