C4551825[trait identifier] AND "Inserm U 954, Faculté de Médecine de N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208187	NM_001081.4(CUBN):c.1000C>T (p.Gln334Ter)	CUBN (Q334*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome	Gnot provided
Select item 56751	NM_030943.4(AMN):c.208-2A>G	AMN, CDC42BPB +1 more	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome type 2 +2 more	GPathogenic
Select item 56759	NM_030943.4(AMN):c.742C>T (p.Gln248Ter)	AMN (Q248*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome	GPathogenic

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