"University of Washington Center for Mendelian Genomics, University of - ClinVar - NCBI

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Items: 15

	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 979063	NM_002430.3(MN1):c.3893_3894dup (p.Pro1299fs)	MN1 (P1299fs)	Duplication (frameshift variant)	MN1 C-terminal truncation (MCTT) syndrome	GLikely pathogenic
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 812561	NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter)	MN1 (A1294*)	Duplication (nonsense)	MN1 C-terminal truncation (MCTT) syndrome +1 more	GPathogenic/Likely pathogenic
Select item 979062	NM_002430.3(MN1):c.3849_3850delinsA (p.His1284fs)	MN1 (H1284fs)	Indel (frameshift variant)	MN1 C-terminal truncation (MCTT) syndrome	GLikely pathogenic
Select item 816905	NM_002430.3(MN1):c.3839del (p.Cys1280fs)	MN1 (C1280fs)	Deletion (frameshift variant)	Atrial septal defect +1 more	GUncertain significance
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 979061	NM_002430.3(MN1):c.3730_3731insAAGAC (p.Thr1244fs)	MN1 (T1244fs)	Insertion (frameshift variant)	MN1 C-terminal truncation (MCTT) syndrome	GLikely pathogenic
Select item 978210	NM_002430.3(MN1):c.1415C>A (p.Ser472Ter)	MN1 (S472*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GPathogenic
Select item 979065	NM_002430.3(MN1):c.1091dup (p.Pro365fs)	MN1 (P365fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 979064	NM_002430.3(MN1):c.536del (p.Ser178_Ser179insTer)	MN1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 979029	Single allele	CHEK2, MN1 +2 more	Deletion	not provided	GLikely pathogenic
Select item 979028	Single allele	MN1	Deletion	not provided	GLikely pathogenic