C4016819[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6689	NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)	CUBN (P1297L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 873111	NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)	CUBN (G1112E)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1	GPathogenic
Select item 56802	NM_001081.4(CUBN):c.3330-439C>G	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 30291	NM_001081.4(CUBN):c.3329+1G>T	CUBN	Single nucleotide variant (splice donor variant)	Imerslund-Grasbeck syndrome type 1	GPathogenic
Select item 56330	NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)	CUBN (D872fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 873110	NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)	CUBN (P337L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 56751	NM_030943.4(AMN):c.208-2A>G	AMN, CDC42BPB +1 more	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic

ClinVar