"Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)"[su - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56749	NM_030943.4(AMN):c.14del (p.Gly5fs)	AMN (G5fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome +1 more	GPathogenic
Select item 56753	NM_030943.4(AMN):c.43+1G>T	AMN	Single nucleotide variant (splice donor variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56751	NM_030943.4(AMN):c.208-2A>G	AMN, CDC42BPB +1 more	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome type 2 +2 more	GPathogenic
Select item 56750	NM_030943.4(AMN):c.208-1G>C	AMN, LOC130056553	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56752	NM_030943.4(AMN):c.295+1del	AMN	Deletion (splice donor variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56754	NM_030943.4(AMN):c.468dup (p.Gly157fs)	AMN (G157fs)	Duplication (frameshift variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56755	NM_030943.4(AMN):c.514-34G>A	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56756	NM_030943.4(AMN):c.663G>A (p.Trp221Ter)	AMN (W221*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 56757	NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del)	AMN	Deletion (inframe_deletion)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56758	NM_030943.4(AMN):c.701G>T (p.Cys234Phe)	AMN (C234F)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56759	NM_030943.4(AMN):c.742C>T (p.Gln248Ter)	AMN (Q248*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 56760	NM_030943.4(AMN):c.761G>A (p.Gly254Glu)	AMN (G254E)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56761	NM_030943.4(AMN):c.974_977dup (p.Ala327fs)	AMN, LOC130056554 (A327fs)	Duplication (frameshift variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56741	NM_030943.4(AMN):c.1006+16_1006+30del	AMN, LOC130056554	Deletion (intron variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56742	NM_030943.4(AMN):c.1006+34_1007-31del	AMN, LOC130056554	Deletion (intron variant)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 56743	NM_030943.4(AMN):c.1006+36_1007-29del	AMN, LOC130056554	Deletion (intron variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56744	NM_030943.4(AMN):c.1014_1021del (p.Leu339fs)	AMN, LOC130056554 (L339fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56745	NM_030943.4(AMN):c.1170-6C>T	AMN	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 56746	NM_030943.4(AMN):c.1253dup (p.Leu419fs)	AMN (L419fs)	Duplication (frameshift variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 56747	NM_030943.4(AMN):c.1257+10C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GBenign
Select item 56748	NM_030943.4(AMN):c.1314_1315del (p.His438fs)	AMN (H438fs)	Microsatellite (frameshift variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic

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Items: 21