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Gene: GM2A & Disease: GM2GAB, 334 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1699419	GM2A	c.209del	p.Gly70fs (p.G70fs)	NM_000405.5 M	Del	P	1 +	4
183275	GM2A	c.164C>T	p.Pro55Leu (p.P55L)	NM_000405.5 M	SNV	P	1 +	4
1699419	GM2A	c.209del	p.Gly70fs (p.G70fs)	NM_001167607.3	Del	P	1 +	4
183275	GM2A	c.164C>T	p.Pro55Leu (p.P55L)	NM_001167607.3	SNV	P	1 +	4
390	GM2A	c.412T>C	p.Cys138Arg (p.C138R)	NM_000405.5 M	SNV	P	1 +	3
390	GM2A	c.412T>C	p.Cys138Arg (p.C138R)	NM_001167607.3	SNV	P	1 +	3
167150	GM2A	c.175A>G	p.Ile59Val (p.I59V)	NM_000405.5 M	SNV	B	1 +	2
167152	GM2A	c.582A>G	p.Ter194= (p.X194=)	NM_000405.5 M	SNV	B	1 +	2
2072336	GM2A	c.81+4A>G	--	NM_000405.5 M	SNV	VUS	1 +	2
256030	GM2A	c.55G>A	p.Ala19Thr (p.A19T)	NM_000405.5 M	SNV	B	1 +	2
167150	GM2A	c.175A>G	p.Ile59Val (p.I59V)	NM_001167607.3	SNV	B	1 +	2
167152	GM2A	c.413-41A>G	--	NM_001167607.3	SNV	B	1 +	2
2072336	GM2A	c.81+4A>G	--	NM_001167607.3	SNV	VUS	1 +	2
256030	GM2A	c.55G>A	p.Ala19Thr (p.A19T)	NM_001167607.3	SNV	B	1 +	2
1349635	GM2A	c.278_279delinsGT	p.Leu93Arg (p.L93R)	NM_000405.5 M	Indel	VUS	1 +	1
2188813	GM2A	c.579A>G	p.Ile193Met (p.I193M)	NM_000405.5 M	SNV	VUS	1 +	1
256029	GM2A	c.*28C>T	--	NM_000405.5 M	SNV	B	1 +	1
2155569	GM2A	c.558C>T	p.Ile186= (p.I186=)	NM_000405.5 M	SNV	LB	1 +	1
725545	GM2A	c.427-4G>A	--	NM_000405.5 M	SNV	LB	1 +	1
2149426	GM2A	c.98G>A	p.Ser33Asn (p.S33N)	NM_000405.5 M	SNV	VUS	1 +	1

334 Results, 20 per Page

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