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Mutation Direct

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Gene: GDF5 & Disease: SYM1B, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8381	GDF5	c.1322T>C	p.Leu441Pro (p.L441P)	NM_000557.5 M	SNV	P	3 +	4
8381	GDF5	c.1322T>C	p.Leu441Pro (p.L441P)	NM_001319138.2	SNV	P	3 +	4
1019956	GDF5	c.1198_1200dup	p.Cys400Dup (p.C400dup)	NM_000557.5 M	Dup	VUS	8 +	2
8386	GDF5	c.1313G>T	p.Arg438Leu (p.R438L)	NM_000557.5 M	SNV	P	2 +	2
1019956	GDF5	c.1198_1200dup	p.Cys400Dup (p.C400dup)	NM_001319138.2	Dup	VUS	8 +	2
8386	GDF5	c.1313G>T	p.Arg438Leu (p.R438L)	NM_001319138.2	SNV	P	2 +	2
8392	GDF5	c.1118T>G	p.Leu373Arg (p.L373R)	NM_000557.5 M	SNV	P	1 +	1
8389	GDF5	c.1471G>A	p.Glu491Lys (p.E491K)	NM_000557.5 M	SNV	P	1 +	1
8392	GDF5	c.1118T>G	p.Leu373Arg (p.L373R)	NM_001319138.2	SNV	P	1 +	1
8389	GDF5	c.1471G>A	p.Glu491Lys (p.E491K)	NM_001319138.2	SNV	P	1 +	1

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