"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522329	NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly)	CUBN (S3491G)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 299360	NM_001081.4(CUBN):c.10383C>T (p.Ser3461=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related condition +3 more	GBenign/Likely benign
Select item 299380	NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp)	CUBN (S3164W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 299424	NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu)	CUBN (D2455E)	Single nucleotide variant (missense variant)	CUBN-related condition +3 more	GBenign/Likely benign
Select item 463389	NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr)	CUBN (M2449T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 581662	NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	CUBN (R1810*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome type 1 +4 more	GPathogenic/Likely pathogenic
Select item 695883	NM_001081.4(CUBN):c.5196C>T (p.Thr1732=)	CUBN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 695884	NM_001081.4(CUBN):c.4200C>T (p.Gly1400=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +3 more	GBenign/Likely benign
Select item 1299828	NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)	CUBN (R1249H)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GConflicting classifications of pathogenicity
Select item 695483	NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser)	CUBN (A1098S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GBenign/Likely benign
Select item 695987	NM_001081.4(CUBN):c.1470G>A (p.Pro490=)	CUBN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 299531	NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr)	CUBN (A335T)	Single nucleotide variant (missense variant)	CUBN-related condition +3 more	GBenign/Likely benign