"OMIM"[submitter] AND "CBLIF"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1748	NM_005142.3(CBLIF):c.1175dup (p.Thr393fs)	CBLIF (T393fs)	Duplication (frameshift variant)	Hereditary intrinsic factor deficiency	GPathogenic
Select item 566919	NM_005142.3(CBLIF):c.183_186del (p.Met61fs)	CBLIF (M61fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1747	NM_005142.3(CBLIF):c.161del (p.Asn54fs)	CBLIF (N54fs)	Deletion (frameshift variant)	Hereditary intrinsic factor deficiency	GPathogenic
Select item 1746	NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)	CBLIF (S46L)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GLikely pathogenic
Select item 1745	NM_005142.3(CBLIF):c.80-1G>A	CBLIF	Single nucleotide variant (splice acceptor variant)	Hereditary intrinsic factor deficiency	GPathogenic
Select item 439755	NM_005142.3(CBLIF):c.79+1G>A	CBLIF	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 1742	NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg)	CBLIF (Q23R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

ClinVar