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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMN
(G5fs)
Deletion
(frameshift variant)
Imerslund-Grasbeck syndrome
+1 more
GPathogenic
AMN
(Q12fs)
Deletion
(frameshift variant)
Imerslund-Grasbeck syndrome type 2
GPathogenic
AMN
(T41I)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
GLikely pathogenic
AMN
(M69K)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 2
GPathogenic
AMN, CDC42BPB
+1 more
Single nucleotide variant
(splice acceptor variant)
Imerslund-Grasbeck syndrome type 2
+2 more
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
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