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Gene: SYNGAP1 & Disease: MRD5, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
41462	SYNGAP1	c.1685C>T	p.Pro562Leu (p.P562L)	NM_006772.3 M	SNV	P	3 +	3
41462	SYNGAP1	c.1685C>T	p.Pro562Leu (p.P562L)	NM_001130066.2	SNV	P	3 +	3
1700054	SYNGAP1	c.859G>C	p.Asp287His (p.D287H)	NM_006772.3 M	SNV	LP	1 +	0
802203	SYNGAP1	c.3179del	p.Gly1060fs (p.G1060fs)	NM_006772.3 M	Del	P	2 +	0
1700054	SYNGAP1	c.859G>C	p.Asp287His (p.D287H)	NM_001130066.2	SNV	LP	1 +	0
802203	SYNGAP1	c.3137del	p.Gly1046fs (p.G1046fs)	NM_001130066.2	Del	P	2 +	0

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