Related gene-specific medical variations for Gene (Select 2694) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362465	NM_005142.3(CBLIF):c.395_396delinsAA (p.Phe132Ter)	CBLIF (F132*)	Indel (nonsense)	Hereditary intrinsic factor deficiency	GLikely pathogenic
Select item 618143	NM_005142.3(CBLIF):c.497C>T (p.Ser166Phe)	CBLIF (S166F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208190	NM_005142.2(CBLIF):c.-376A>T	CBLIF	Single nucleotide variant	Hereditary intrinsic factor deficiency	Gnot provided

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