C5394044[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 809340	NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)	MN1 (W1301*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 72912	NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)	MN1 (R1295*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 812563	NM_002430.3(MN1):c.3835C>T (p.Gln1279Ter)	MN1 (Q1279*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GPathogenic
Select item 812559	NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter)	MN1 (Q1273*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GPathogenic
Select item 978211	NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter)	MN1 (E1260*)	Single nucleotide variant (nonsense)	CEBALID syndrome +1 more	GConflicting classifications of pathogenicity
Select item 812558	NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)	MN1 (E1249*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GLikely pathogenic
Select item 978210	NM_002430.3(MN1):c.1415C>A (p.Ser472Ter)	MN1 (S472*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GPathogenic

ClinVar