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Gene: BMP2 & Disease: SSFSC1, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1699318	BMP2	c.1191G>C	p.Ter397Tyr (p.X397Y)	NM_001200.4 M	SNV	LP	1 +	2
2573988	BMP2	c.231dup	p.Tyr78fs (p.Y78fs)	NM_001200.4 M	Dup	P	1 +	2
2431356	BMP2	c.275C>A	p.Ser92Ter (p.S92X)	NM_001200.4 M	SNV	LP	1 +	1
492934	BMP2	c.79G>T	p.Glu27Ter (p.E27X)	NM_001200.4 M	SNV	P	2 +	1
492935	BMP2	c.953dup	p.Tyr320fs (p.Y320fs)	NM_001200.4 M	Dup	P	1 +	1
492936	BMP2	c.-7-2_-7-1delinsCC	--	NM_001200.4 M	Indel	P	1 +	1
492937	BMP2	c.987C>A	p.Cys329Ter (p.C329X)	NM_001200.4 M	SNV	P	2 +	1
1679583	BMP2	c.922G>A	p.Val308Met (p.V308M)	NM_001200.4 M	SNV	VUS	1 +	0
2506485	BMP2	c.405_409del	p.Asn135fs (p.N135fs)	NM_001200.4 M	MS	LP	1 +	0

9 Results, 20 per Page

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