"MVZ Medizinische Genetik Mainz"[submitter] AND "CUBN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256867	NM_001081.4(CUBN):c.10390C>G (p.Pro3464Ala)	CUBN (P3464A)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign	GUncertain significance
Select item 3338368	NM_001081.4(CUBN):c.9286_9287del (p.Leu3096fs)	CUBN (L3096fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome type 1	GPathogenic
Select item 3235995	NM_001081.4(CUBN):c.6297_6298insT (p.Arg2100Ter)	CUBN (R2100*)	Insertion (nonsense)	Imerslund-Grasbeck syndrome type 1	GPathogenic
Select item 3235177	NM_001081.4(CUBN):c.5927-1G>A	CUBN	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome type 1	GLikely pathogenic
Select item 3236198	NM_001081.4(CUBN):c.5698G>A (p.Glu1900Lys)	CUBN (E1900K)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 3338406	NM_001081.4(CUBN):c.4774_4775del (p.Ser1592fs)	CUBN (S1592fs)	Microsatellite (frameshift variant)	Proteinuria, chronic benign	GPathogenic
Select item 3338412	NM_001081.4(CUBN):c.4753C>T (p.Gln1585Ter)	CUBN (Q1585*)	Single nucleotide variant (nonsense)	Proteinuria, chronic benign	GPathogenic
Select item 3235994	NM_001081.4(CUBN):c.4042G>T (p.Gly1348Ter)	CUBN (G1348*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome type 1	GPathogenic

ClinVar