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Links from MedGen

Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
GLikely benign
EIF2AK4
(T475M)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GUncertain significance
EIF2AK4
(F590C)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GUncertain significance
EIF2AK4
(S770fs)
Deletion
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(Q328P)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GUncertain significance
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
GUncertain significance
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
GLikely benign
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign/Likely benign
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
GLikely benign
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GBenign
EIF2AK4
Single nucleotide variant
(splice donor variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4, LOC130056813
(Q28*)
Single nucleotide variant
(nonsense)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GBenign/Likely benign
EIF2AK4
(V1634fs)
Microsatellite
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GUncertain significance
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
GLikely benign
EIF2AK4
(R360C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
EIF2AK4, LOC130056813
Single nucleotide variant
(5 prime UTR variant)
Familial pulmonary capillary hemangiomatosis
GBenign
EIF2AK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EIF2AK4
(I565T)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GUncertain significance
EIF2AK4
(T1473fs)
Microsatellite
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(E1468fs)
Duplication
(frameshift variant)
not provided
GPathogenic
EIF2AK4
(K1465*)
Duplication
(nonsense)
not provided
GPathogenic
EIF2AK4
(L1295R)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(H1202L)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(G1109R)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(Q1033*)
Single nucleotide variant
(nonsense)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(L1019fs)
Deletion
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(I948fs)
Deletion
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(S909R)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(V607G)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(G599R)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(R581fs)
Duplication
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(L387fs)
Microsatellite
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
(N94fs)
Duplication
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
GLikely pathogenic
EIF2AK4
Single nucleotide variant
(splice acceptor variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GBenign
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign/Likely benign
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
GLikely benign
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
GLikely benign
EIF2AK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EIF2AK4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
GLikely benign
EIF2AK4
(P674S)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GBenign/Likely benign
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GBenign
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GBenign/Likely benign
EIF2AK4
(K1336R)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign/Likely benign
EIF2AK4
Microsatellite
(intron variant)
EIF2AK4-related disorder
+2 more
GBenign
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GBenign
EIF2AK4
(D888H)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GBenign
EIF2AK4
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
EIF2AK4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
EIF2AK4
Deletion
(intron variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GBenign
EIF2AK4
Indel
(splice donor variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(S1403fs)
Duplication
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GPathogenic
EIF2AK4
Single nucleotide variant
(splice donor variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
Single nucleotide variant
(splice donor variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(P1115L)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(Q1082*)
Single nucleotide variant
(nonsense)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(Q953*)
Single nucleotide variant
(nonsense)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(R820*)
Single nucleotide variant
(nonsense)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
Single nucleotide variant
(splice donor variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(S714fs)
Duplication
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(L643R)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(R249*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
EIF2AK4
(C118fs)
Microsatellite
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
Microsatellite
(inframe_insertion)
not provided
+2 more
GBenign
EIF2AK4
(I441L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
EIF2AK4
Single nucleotide variant
(3 prime UTR variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GBenign
EIF2AK4
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
EIF2AK4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
EIF2AK4
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign
EIF2AK4
(G1306C)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign
EIF2AK4
Single nucleotide variant
(intron variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign
EIF2AK4
(E556G)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign
EIF2AK4, LOC130056813
Single nucleotide variant
(synonymous variant)
Familial pulmonary capillary hemangiomatosis
+2 more
GBenign
EIF2AK4
(K187fs)
Deletion
(frameshift variant)
not provided
GPathogenic
EIF2AK4
Single nucleotide variant
(splice acceptor variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(R1150*)
Single nucleotide variant
(nonsense)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(R1256*)
Single nucleotide variant
(nonsense)
Familial pulmonary capillary hemangiomatosis
+1 more
GPathogenic
EIF2AK4
(V385fs)
Duplication
(frameshift variant)
not provided
GPathogenic
EIF2AK4
(R463*)
Single nucleotide variant
(nonsense)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(R585Q)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(R1136*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
EIF2AK4
(K190fs)
Duplication
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(Q1268*)
Single nucleotide variant
(nonsense)
Familial pulmonary capillary hemangiomatosis
GPathogenic
EIF2AK4
(R465fs)
Deletion
(frameshift variant)
Familial pulmonary capillary hemangiomatosis
GPathogenic
BMPR2
(N202Y)
Single nucleotide variant
(missense variant)
Familial pulmonary capillary hemangiomatosis
+1 more
GConflicting classifications of pathogenicity
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