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Gene: COL2A1 & Disease: SMDCF, 50 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
449001	COL2A1	c.905C>T	p.Ala302Val (p.A302V)	NM_001844.5 M	SNV	P	16 +	12
449001	COL2A1	c.698C>T	p.Ala233Val (p.A233V)	NM_033150.3	SNV	P	16 +	12
265429	COL2A1	c.2833G>A	p.Gly945Ser (p.G945S)	NM_001844.5 M	SNV	P	4 +	10
265429	COL2A1	c.2626G>A	p.Gly876Ser (p.G876S)	NM_033150.3	SNV	P	4 +	10
929262	COL2A1	c.1034G>A	p.Gly345Asp (p.G345D)	NM_001844.5 M	SNV	P	1 +	9
929262	COL2A1	c.827G>A	p.Gly276Asp (p.G276D)	NM_033150.3	SNV	P	1 +	9
929261	COL2A1	c.541G>C	p.Ala181Pro (p.A181P)	NM_001844.5 M	SNV	VUS	1 +	3
258211	COL2A1	c.1545C>A	p.Arg515= (p.R515=)	NM_001844.5 M	SNV	LB	17 +	3
929261	COL2A1	c.334G>C	p.Ala112Pro (p.A112P)	NM_033150.3	SNV	VUS	1 +	3
258211	COL2A1	c.1338C>A	p.Arg446= (p.R446=)	NM_033150.3	SNV	LB	17 +	3
516232	COL2A1	c.2160C>A	p.Gly720= (p.G720=)	NM_001844.5 M	SNV	LB	17 +	2
516324	COL2A1	c.4344T>C	p.Thr1448= (p.T1448=)	NM_001844.5 M	SNV	LB	17 +	2
1106196	COL2A1	c.4014C>T	p.Ser1338= (p.S1338=)	NM_001844.5 M	SNV	LB	16 +	2
1524681	COL2A1	c.2795G>A	p.Arg932Gln (p.R932Q)	NM_001844.5 M	SNV	LB	16 +	2
1386179	COL2A1	c.1757G>A	p.Arg586His (p.R586H)	NM_001844.5 M	SNV	B	16 +	2
1125241	COL2A1	c.4419C>T	p.Pro1473= (p.P1473=)	NM_001844.5 M	SNV	LB	16 +	2
1675238	COL2A1	c.3111+5G>A	--	NM_001844.5 M	SNV	VUS	16 +	2
938269	COL2A1	c.1855G>A	p.Glu619Lys (p.E619K)	NM_001844.5 M	SNV	LB	16 +	2
1020209	COL2A1	c.3007G>A	p.Glu1003Lys (p.E1003K)	NM_001844.5 M	SNV	VUS	16 +	2
1110328	COL2A1	c.2886C>T	p.Asp962= (p.D962=)	NM_001844.5 M	SNV	LB	16 +	2

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