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Links from Gene

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPTN
(H157Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(V648L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(R731G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(G338C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(T322M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(A227P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(Y18H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(H158R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(R151S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(S144F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(G645S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RPTN
(S613P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(L58S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(D50E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(Q481L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(Q445P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(Y415C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(G392S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP6, ADAM15
+263 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+315 more
Copy number gain
not specified
GPathogenic
RPTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPTN
(H546R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(R732Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACP6, ADAM15
+293 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
RPTN
(P478T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RPTN
(S461P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(F41S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(G633R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(S753N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RPTN
(A219T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RPTN
(H717Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(P442L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(N183H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(Q495R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(C111R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RPTN
(K735E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RPTN
(Y451C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(D386G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
C2CD4D, FLG
+9 more
Duplication
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
GUncertain significance
RPTN
(T574R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(H582R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(Q123E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(R230Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RPTN
(G404D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(E720K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(D479A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(S376I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(E723K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(T623I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(W704R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(E32K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(H750R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(T215I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(D764V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(C231R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPTN
(Q441E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRTC2, KHDC4
+228 more
Duplication
MHC class II deficiency
+3 more
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
RPTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPTN, TCHH
+3 more
Copy number loss
not provided
GUncertain significance
S100A11, FLG
+9 more
Copy number gain
not provided
GUncertain significance
RPTN
Deletion
(inframe_deletion)
not provided
GBenign
FLG, HRNR
+6 more
Copy number gain
not provided
GUncertain significance
LCE2A, S100A2
+125 more
Copy number gain
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
CIART, LCE2A
+154 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
CCDST, HRNR
+23 more
Copy number loss
See cases
GUncertain significance
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
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