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Links from MedGen

Items: 1 to 100 of 157

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2AK3, LOC101928371
(S1098* +1 more)
Single nucleotide variant
(nonsense)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3
(L200fs +1 more)
Microsatellite
(frameshift variant)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3
(W370* +1 more)
Single nucleotide variant
(nonsense)
Wolcott-Rallison dysplasia
GPathogenic
EIF2AK3
Deletion
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
EIF2AK3
Single nucleotide variant
(splice donor variant)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3, LOC101928371
Single nucleotide variant
(splice acceptor variant)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3
Single nucleotide variant
(splice donor variant)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3, LOC101928371
(E759fs +1 more)
Microsatellite
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
GPathogenic
EIF2AK3, LOC101928371
(Q813* +1 more)
Single nucleotide variant
(nonsense)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3, LOC101928371
(E559* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
EIF2AK3, LOC101928371
(Y839C +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3, LOC101928371
(I558fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3
(A376fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EIF2AK3
(W224* +1 more)
Single nucleotide variant
(nonsense)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3, LOC101928371
Deletion
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3
(R487* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
EIF2AK3
Single nucleotide variant
(splice donor variant)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3
Single nucleotide variant
(splice donor variant)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3, LOC101928371
(V1034I +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3
(R482W +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GConflicting classifications of pathogenicity
EIF2AK3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EIF2AK3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EIF2AK3
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
EIF2AK3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EIF2AK3
(A29V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3
(T177I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EIF2AK3
(T110A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3
(M169T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(S570Y +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
EIF2AK3
(G35R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3
(D366del +1 more)
Microsatellite
(inframe_deletion)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3
(T494I +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(R569K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
EIF2AK3
(L480V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(S849del +1 more)
Microsatellite
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3
(V375I +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(I996S +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(R547C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3
(S259G +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(L1018fs +1 more)
Duplication
(frameshift variant)
Wolcott-Rallison dysplasia
+1 more
GPathogenic/Likely pathogenic
EIF2AK3
(M171V +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(C904R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3
(R541H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EIF2AK3, LOC101928371
(S1096N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3
(R625G +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3
(I305V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3
(I374T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(H677R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
EIF2AK3
(L495fs +1 more)
Deletion
(frameshift variant)
Wolcott-Rallison dysplasia
GPathogenic
EIF2AK3
(I5fs)
Deletion
(frameshift variant)
Wolcott-Rallison dysplasia
GPathogenic
EIF2AK3
(Y214C +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
EIF2AK3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
EIF2AK3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
EIF2AK3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EIF2AK3
(T131I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
EIF2AK3
(N628S +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(T1032S +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3
Single nucleotide variant
(splice acceptor variant)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3
(T362I +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3
(A271V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3
(N135S +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3
(D306G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(E621V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
EIF2AK3
(K362fs +1 more)
Deletion
(frameshift variant)
Wolcott-Rallison dysplasia
GLikely pathogenic
EIF2AK3
(A50V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
EIF2AK3
(R246K +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3
Single nucleotide variant
(synonymous variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3, LOC101928371
(M783R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3, LOC101928371
(A828T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(N1074K +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3, LOC101928371
Single nucleotide variant
(3 prime UTR variant)
Wolcott-Rallison dysplasia
GUncertain significance
LOC101928371, EIF2AK3
Single nucleotide variant
(3 prime UTR variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3
(S286Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3
(D351N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3, LOC101928371
Single nucleotide variant
(3 prime UTR variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3, LOC101928371
Single nucleotide variant
(3 prime UTR variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3, LOC101928371
Single nucleotide variant
(3 prime UTR variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3, LOC101928371
Single nucleotide variant
(3 prime UTR variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3
Single nucleotide variant
(5 prime UTR variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3
(L18R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3
(S425R +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EIF2AK3
(R34H)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
GUncertain significance
EIF2AK3
(T71I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2AK3
(P79L)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+2 more
GLikely benign
EIF2AK3, LOC101928371
(K672E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(R752* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
+1 more
GPathogenic
EIF2AK3
Single nucleotide variant
(synonymous variant)
Wolcott-Rallison dysplasia
+1 more
GBenign/Likely benign
EIF2AK3
(E302D +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GBenign/Likely benign
EIF2AK3, LOC101928371
(Q611H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
+1 more
GLikely benign
EIF2AK3
(A271T +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+2 more
GConflicting classifications of pathogenicity
EIF2AK3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
EIF2AK3
(R168H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC101928371, EIF2AK3
(P702A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
+1 more
GUncertain significance
EIF2AK3, LOC101928371
(Q920* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Wolcott-Rallison dysplasia
GPathogenic
EIF2AK3, LOC101928371
(M975V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EIF2AK3
(I310L +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
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