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Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
IL22RA1, LOC122056794
Single nucleotide variant
(3 prime UTR variant)
not specified
GBenign
IL22RA1
(S574P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(S523L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(R518G)
Single nucleotide variant
(missense variant)
not specified
GBenign
IL22RA1
(M509K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(G506D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(S500F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(L499F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(T488I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(G487E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(T451N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(Q432R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(Q430P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(L425H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(E408K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(M407V)
Single nucleotide variant
(missense variant)
not provided
GBenign
IL22RA1
(V405I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IL22RA1
(V385F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(K384T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(T369S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(P361S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(G360R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL22RA1
(Q344H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(V340M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL22RA1
(R318Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
IL22RA1
(S307P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(Q303H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(V282I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(I278S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(P274Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(V269D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(R268Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(A259V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(Y253H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(A244T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(G233R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(T226I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(R225Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(P214A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(V205I)
Single nucleotide variant
(missense variant)
not specified
GBenign
IL22RA1
(R153Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL22RA1
(A148T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
IL22RA1
(T144M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(H140R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(S130P)
Single nucleotide variant
(missense variant)
not provided
GBenign
IL22RA1
(I129V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(V126M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
Single nucleotide variant
(intron variant)
not specified
GBenign
IL22RA1
(T89M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(L81Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(S78F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(T75A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(R73Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(K69N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(G61R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
Single nucleotide variant
(intron variant)
not specified
GBenign
IL22RA1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
IL22RA1
(G44R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
(A17P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL22RA1
Single nucleotide variant
(intron variant)
not specified
GBenign
IL22RA1
(S12F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ASAP3, CNR2
+22 more
Deletion
Diamond-Blackfan anemia
GPathogenic
AKR7A2, AKR7A3
+77 more
Duplication
Deficiency of hydroxymethylglutaryl-CoA lyase
GUncertain significance
IFNLR1, IL22RA1
+1 more
Copy number loss
not provided
GUncertain significance
CNR2, FUCA1
+11 more
Copy number gain
not provided
GUncertain significance
CNR2, FUCA1
+9 more
Copy number gain
not provided
GUncertain significance
GRHL3, IFNLR1
+5 more
Copy number gain
not provided
GUncertain significance
CLIC4, GRHL3
+8 more
Copy number gain
See cases
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACTL8, AKR7A2
+88 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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