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Gene: MAP1B & Disease: PVNH9, 79 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1027647	MAP1B	c.742C>A	p.Pro248Thr (p.P248T)	NM_005909.5 M	SNV	VUS	1 +	3
1704367	MAP1B	c.5896C>A	p.Pro1966Thr (p.P1966T)	NM_005909.5 M	SNV	VUS	1 +	3
1027647	MAP1B	c.364C>A	p.Pro122Thr (p.P122T)	NM_001324255.2	SNV	VUS	1 +	3
1704367	MAP1B	c.5518C>A	p.Pro1840Thr (p.P1840T)	NM_001324255.2	SNV	VUS	1 +	3
638688	MAP1B	c.5368C>T	p.Arg1790Ter (p.R1790X)	NM_005909.5 M	SNV	P	4 +	1
548632	MAP1B	c.907C>T	p.Arg303Ter (p.R303X)	NM_005909.5 M	SNV	P	2 +	1
548633	MAP1B	c.1594C>T	p.Gln532Ter (p.Q532X)	NM_005909.5 M	SNV	P	2 +	1
548634	MAP1B	c.3316C>T	p.Arg1106Ter (p.R1106X)	NM_005909.5 M	SNV	P	2 +	1
2442022	MAP1B	c.5563G>C	p.Gly1855Arg (p.G1855R)	NM_005909.5 M	SNV	VUS	2 +	1
1699149	MAP1B	c.3967C>T	p.Pro1323Ser (p.P1323S)	NM_005909.5 M	SNV	VUS	1 +	1
930211	MAP1B	c.2035G>T	p.Glu679Ter (p.E679X)	NM_005909.5 M	SNV	P	1 +	1
800720	MAP1B	c.2134del	p.Glu712fs (p.E712fs)	NM_005909.5 M	Del	P	2 +	1
800721	MAP1B	c.3094G>T	p.Glu1032Ter (p.E1032X)	NM_005909.5 M	SNV	P	3 +	1
800722	MAP1B	c.4990C>T	p.Arg1664Ter (p.R1664X)	NM_005909.5 M	SNV	P	3 +	1
638688	MAP1B	c.4990C>T	p.Arg1664Ter (p.R1664X)	NM_001324255.2	SNV	P	4 +	1
548632	MAP1B	c.529C>T	p.Arg177Ter (p.R177X)	NM_001324255.2	SNV	P	2 +	1
548633	MAP1B	c.1216C>T	p.Gln406Ter (p.Q406X)	NM_001324255.2	SNV	P	2 +	1
548634	MAP1B	c.2938C>T	p.Arg980Ter (p.R980X)	NM_001324255.2	SNV	P	2 +	1
2442022	MAP1B	c.5185G>C	p.Gly1729Arg (p.G1729R)	NM_001324255.2	SNV	VUS	2 +	1
1699149	MAP1B	c.3589C>T	p.Pro1197Ser (p.P1197S)	NM_001324255.2	SNV	VUS	1 +	1

79 Results, 20 per Page

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