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Links from MedGen

Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMN
(Q174* +1 more)
Single nucleotide variant
(nonsense)
Imerslund-Grasbeck syndrome type 2
GPathogenic
AMN
(S165fs)
Duplication
(frameshift variant)
Imerslund-Grasbeck syndrome type 2
GPathogenic
AMN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GLikely benign
AMN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome
+1 more
GBenign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GBenign/Likely benign
AMN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GBenign/Likely benign
AMN
Duplication
(intron variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GBenign/Likely benign
AMN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GLikely benign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GLikely benign
AMN
(R119L)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GUncertain significance
AMN
Microsatellite
(intron variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GUncertain significance
AMN
(W36C)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+1 more
GUncertain significance
AMN
(D178N)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GUncertain significance
AMN, LOC130056554
(G336S)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GUncertain significance
AMN
(V66A)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+1 more
GUncertain significance
AMN
(V375L)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GUncertain significance
AMN
(F150L)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GUncertain significance
AMN, LOC130056554
Duplication
(inframe_insertion)
Imerslund-Grasbeck syndrome type 2
+1 more
GUncertain significance
AMN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GUncertain significance
AMN, LOC130056554
(H352Q)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GUncertain significance
AMN
(E100fs)
Indel
(frameshift variant)
Imerslund-Grasbeck syndrome type 2
GPathogenic
AMN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GBenign/Likely benign
AMN
Single nucleotide variant
(synonymous variant)
AMN-related disorder
+2 more
GBenign/Likely benign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+1 more
GLikely benign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GLikely benign
AMN, LOC130056554
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GLikely benign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+1 more
GLikely benign
AMN
(R271W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
AMN
(E450G)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GUncertain significance
AMN
(M69K)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
GPathogenic
AMN
(Q12fs)
Deletion
(frameshift variant)
Imerslund-Grasbeck syndrome type 2
GPathogenic
AMN, LOC130056554
Deletion
(splice acceptor variant)
Imerslund-Grasbeck syndrome type 2
GPathogenic
AMN, LOC130056554
(E348fs)
Indel
(frameshift variant)
Imerslund-Grasbeck syndrome type 2
GPathogenic
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GLikely benign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+1 more
GLikely benign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+1 more
GBenign/Likely benign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+1 more
GLikely benign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GBenign
AMN, LOC130056553
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome
+1 more
GBenign/Likely benign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+1 more
GBenign/Likely benign
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+1 more
GBenign/Likely benign
AMN
(L258S)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
+3 more
GBenign/Likely benign
AMN, LOC130056554
(A330E)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GConflicting classifications of pathogenicity
AMN, LOC130056554
Deletion
(inframe_deletion)
Imerslund-Grasbeck syndrome type 2
GUncertain significance
AMN
Duplication
(inframe_insertion)
Imerslund-Grasbeck syndrome type 2
+2 more
GBenign
AMN
Single nucleotide variant
(splice acceptor variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GLikely pathogenic
AMN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GLikely benign
AMN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
AMN
Single nucleotide variant
(splice donor variant)
Imerslund-Grasbeck syndrome
+1 more
GLikely pathogenic
AMN
(R134G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
AMN
(F50S)
Single nucleotide variant
(missense variant)
Cobalamin deficiency
+2 more
GUncertain significance
AMN
(T277A)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
+2 more
GBenign/Likely benign
AMN, CDC42BPB
+1 more
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic
AMN, LOC130056553
Single nucleotide variant
(splice acceptor variant)
Imerslund-Grasbeck syndrome type 2
+1 more
GPathogenic/Likely pathogenic
AMN
(G5fs)
Deletion
(frameshift variant)
Imerslund-Grasbeck syndrome
+1 more
GPathogenic
AMN
(T41I)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
GLikely pathogenic
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