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Links from Gene

Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL4R
(V78M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IL4R
(T143S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4R
(R555H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(G416E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(P675S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(F10I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4R
(R132Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(E230K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(I174V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL4R
(P131L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4R
(A82V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IL4R
(D750N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(G710S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(L543V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(P505L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(A454T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(T427I +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL4R
(G460D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(E45K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4R
(M412I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(D378V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(V343M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C16orf82, GTF3C1
+5 more
Copy number gain
not specified
GUncertain significance
IL4R
Single nucleotide variant
(3 prime UTR variant)
IL4R-related disorder
GBenign
IL4R
Single nucleotide variant
(synonymous variant)
IL4R-related disorder
GBenign
IL4R
Single nucleotide variant
(synonymous variant)
IL4R-related disorder
GBenign
IL4R
(E240A +2 more)
Single nucleotide variant
(missense variant)
IL4R-related disorder
GBenign
IL4R
(C271R +2 more)
Single nucleotide variant
(missense variant)
IL4R-related disorder
GBenign
IL4R
Single nucleotide variant
(synonymous variant)
IL4R-related disorder
GLikely benign
IL4R
Single nucleotide variant
(intron variant)
IL4R-related disorder
GLikely benign
IL4R
Single nucleotide variant
(synonymous variant)
IL4R-related disorder
GLikely benign
IL4R
(A207D +2 more)
Single nucleotide variant
(missense variant)
IL4R-related disorder
GLikely benign
IL4R
(A332V +2 more)
Single nucleotide variant
(missense variant)
IL4R-related disorder
GLikely benign
IL4R
Single nucleotide variant
(synonymous variant)
IL4R-related disorder
GLikely benign
IL4R
(A67T +1 more)
Single nucleotide variant
(missense variant +1 more)
IL4R-related disorder
GBenign
IL4R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL4R
(G624S +2 more)
Single nucleotide variant
(missense variant)
IL4R-related disorder
GUncertain significance
IL4R
(P533S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(V655I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPIPB5, PALB2
+64 more
Copy number loss
Chromosome 16p12.2-p11.2 deletion syndrome
GPathogenic
IL4R
(L150S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(R109G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4R
(I623T +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL4R
(E213D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(P649S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(R555C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(F69L +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL4R
(R273C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(E42K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4R
(E30G +1 more)
Single nucleotide variant
(missense variant +1 more)
IgE responsiveness, atopic
GUncertain significance
IL4R
(R59C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4R
(E104K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4R
(H362R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(D163V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(L399V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(G523E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(V526A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(I118V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL4R
(D480G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(G300V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(S805A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(R258H +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL4R
(E516Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(D735G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(S201R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(A39T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL4R
(E151Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4R
(V186M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALDOA, APOBR
+93 more
Copy number gain
not provided
GPathogenic
ABAT, ABCC1
+226 more
Copy number gain
not provided
GPathogenic
APOBR, AQP8
+67 more
Copy number loss
not provided
GPathogenic
ABAT, ABCC1
+252 more
Copy number gain
See cases
GPathogenic
C16orf82, IL4R
+3 more
Copy number gain
not provided
GUncertain significance
IL4R, GTF3C1
+4 more
Copy number gain
not provided
GUncertain significance
KDM8, LAT
+69 more
Copy number gain
not provided
Gnot provided
KDM8, LAT
+64 more
Deletion
not provided
GPathogenic
IL4R
(V432L +2 more)
Single nucleotide variant
(missense variant)
IgE responsiveness, atopic
+2 more
GUncertain significance
GGA2, GSG1L
+64 more
Copy number gain
not provided
GPathogenic
ABAT, ABCC1
+250 more
Copy number gain
Microcephaly
GPathogenic
IL4R
Single nucleotide variant
(intron variant)
not provided
GBenign
IL4R
(S626P +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IL4R
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL4R
(V419I +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IL4R
(A477T +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IL4R
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL4R
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IL4R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL4R
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL4R
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IL4R
(R271H +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IL4R
(S387L +2 more)
Single nucleotide variant
(missense variant)
Susceptibility to HIV infection
+2 more
GConflicting classifications of pathogenicity
APOBR, AQP8
+65 more
Copy number loss
not provided
GPathogenic
ACSM1, ACSM2A
+128 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+65 more
Copy number gain
See cases
GPathogenic
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+44 more
Copy number gain
See cases
GPathogenic
ALDOA, APOBR
+102 more
Copy number loss
See cases
GPathogenic
C16orf82, GTF3C1
+5 more
Copy number gain
See cases
GUncertain significance
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