"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AMN"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	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 699594	NM_030943.4(AMN):c.45A>C (p.Ala15=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely benign
Select item 1165510	NM_030943.4(AMN):c.63C>T (p.Ser21=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GBenign/Likely benign
Select item 699091	NM_030943.4(AMN):c.93C>T (p.Asp31=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GBenign/Likely benign
Select item 1441367	NM_030943.4(AMN):c.108G>C (p.Trp36Cys)	AMN (W36C)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance
Select item 1414197	NM_030943.4(AMN):c.197T>C (p.Val66Ala)	AMN (V66A)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance
Select item 1663441	NM_030943.4(AMN):c.207+9G>A	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely benign
Select item 695898	NM_030943.4(AMN):c.208-10T>C	AMN, LOC130056553	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +2 more	GBenign/Likely benign
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 696073	NM_030943.4(AMN):c.321T>C (p.Ser107=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GBenign
Select item 1511773	NM_030943.4(AMN):c.356G>T (p.Arg119Leu)	AMN (R119L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance
Select item 532199	NM_030943.4(AMN):c.400C>G (p.Arg134Gly)	AMN (R134G)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +2 more	GUncertain significance
Select item 1408431	NM_030943.4(AMN):c.448T>C (p.Phe150Leu)	AMN (F150L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance
Select item 798651	NM_030943.4(AMN):c.492C>G (p.Arg164=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely benign
Select item 1432388	NM_030943.4(AMN):c.532G>A (p.Asp178Asn)	AMN (D178N)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GUncertain significance
Select item 1156832	NM_030943.4(AMN):c.603C>A (p.Gly201=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely benign
Select item 1393392	NM_030943.4(AMN):c.651+3G>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance
Select item 532213	NM_030943.4(AMN):c.735C>T (p.Pro245=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GLikely benign
Select item 532205	NM_030943.4(AMN):c.760+1G>A	AMN	Single nucleotide variant (splice donor variant)	Imerslund-Grasbeck syndrome +1 more	GLikely pathogenic
Select item 1052839	NM_030943.4(AMN):c.811C>T (p.Arg271Trp)	AMN (R271W)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +2 more	GUncertain significance
Select item 697343	NM_030943.4(AMN):c.835C>T (p.Leu279=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GLikely benign
Select item 1614090	NM_030943.4(AMN):c.841C>T (p.Leu281=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GBenign/Likely benign
Select item 1170105	NM_030943.4(AMN):c.844-3C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 2 +2 more	GBenign/Likely benign
Select item 567966	NM_030943.4(AMN):c.844-1G>C	AMN	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely pathogenic
Select item 695844	NM_030943.4(AMN):c.909C>T (p.Ala303=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GBenign/Likely benign
Select item 1152542	NM_030943.4(AMN):c.969G>A (p.Arg323=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely benign
Select item 651339	NM_030943.4(AMN):c.989C>A (p.Ala330Glu)	AMN, LOC130056554 (A330E)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1420505	NM_030943.4(AMN):c.1006G>A (p.Gly336Ser)	AMN, LOC130056554 (G336S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance
Select item 1374284	NM_030943.4(AMN):c.1056C>A (p.His352Gln)	AMN, LOC130056554 (H352Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 591675	NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del)	AMN, LOC130056554	Deletion (inframe_deletion)	Imerslund-Grasbeck syndrome type 2	GUncertain significance
Select item 1411676	NM_030943.4(AMN):c.1123G>C (p.Val375Leu)	AMN (V375L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GUncertain significance
Select item 695862	NM_030943.4(AMN):c.1137G>T (p.Ala379=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GBenign/Likely benign
Select item 1086779	NM_030943.4(AMN):c.1152C>T (p.Arg384=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely benign
Select item 1600049	NM_030943.4(AMN):c.1169+11C>G	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 2 +2 more	GBenign/Likely benign
Select item 1155570	NM_030943.4(AMN):c.1176G>A (p.Arg392=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GLikely benign
Select item 1591129	NM_030943.4(AMN):c.1179G>A (p.Arg393=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely benign
Select item 1599249	NM_030943.4(AMN):c.1257+20dup	AMN	Duplication (intron variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GBenign/Likely benign
Select item 1592906	NM_030943.4(AMN):c.1258-14C>G	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely benign
Select item 940760	NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)	AMN (E450G)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39