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Gene: TBC1D2B & Disease: NEDSGO, 70 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1098845	TBC1D2B	c.426dup	p.Asn143Ter (p.N143X)	NM_144572.2 M	Dup	P	1 +	1
1683745	TBC1D2B	c.425delinsTT	p.Cys142fs (p.C142fs)	NM_144572.2 M	Indel	LP	1 +	1
1098847	TBC1D2B	c.658_659del	p.Leu220fs (p.L220fs)	NM_144572.2 M	Del	P	1 +	1
1098846	TBC1D2B	c.1480C>T	p.Gln494Ter (p.Q494X)	NM_144572.2 M	SNV	P	1 +	1
1098848	TBC1D2B	c.2295C>G	p.Tyr765Ter (p.Y765X)	NM_144572.2 M	SNV	P	1 +	1
1098844	TBC1D2B	c.2378T>A	p.Leu793Ter (p.L793X)	NM_144572.2 M	SNV	P	1 +	1
2436964	TBC1D2B	c.2752C>T	p.Arg918Trp (p.R918W)	NM_144572.2 M	SNV	VUS	1 +	1
1098845	TBC1D2B	c.426dup	p.Asn143Ter (p.N143X)	NM_001387142.1	Dup	P	1 +	1
	TBC1D2B	c.426dup	p.Asn143Ter (p.N143X)	NM_001387143.1	Dup	P	1 +	1
	TBC1D2B	c.426dup	p.Asn143Ter (p.N143X)	NM_001387144.1	Dup	P	1 +	1
	TBC1D2B	c.90dup	p.Asn31Ter (p.N31X)	NM_001387145.1	Dup	P	1 +	1
	TBC1D2B	c.90dup	p.Asn31Ter (p.N31X)	NM_001387146.1	Dup	P	1 +	1
	TBC1D2B	c.90dup	p.Asn31Ter (p.N31X)	NM_001387147.1	Dup	P	1 +	1
	TBC1D2B	c.90dup	p.Asn31Ter (p.N31X)	NM_001387148.1	Dup	P	1 +	1
	TBC1D2B	c.90dup	p.Asn31Ter (p.N31X)	NM_001387149.1	Dup	P	1 +	1
	TBC1D2B	c.426dup	p.Asn143Ter (p.N143X)	NM_015079.6	Dup	P	1 +	1
1683745	TBC1D2B	c.425delinsTT	p.Cys142fs (p.C142fs)	NM_001387142.1	Indel	LP	1 +	1
	TBC1D2B	c.425delinsTT	p.Cys142fs (p.C142fs)	NM_001387143.1	Indel	LP	1 +	1
	TBC1D2B	c.425delinsTT	p.Cys142fs (p.C142fs)	NM_001387144.1	Indel	LP	1 +	1
	TBC1D2B	c.89delinsTT	p.Cys30fs (p.C30fs)	NM_001387145.1	Indel	LP	1 +	1

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