"3billion"[submitter] AND "MAP1B"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638688	NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter)	MAP1B (R1790* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9	GPathogenic
Select item 1320111	NM_005909.5(MAP1B):c.6715del (p.Asp2238_Leu2239insTer)	MAP1B	Deletion (nonsense)	Periventricular nodular heterotopia 9	GLikely pathogenic
Select item 1320233	NM_005909.5(MAP1B):c.6733del (p.Thr2245fs)	MAP1B (T2119fs +1 more)	Deletion (frameshift variant)	Periventricular nodular heterotopia 9	GLikely pathogenic

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