U.S. flag

An official website of the United States government

Links from Gene

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ18
(F281L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ18
(R40H)
Single nucleotide variant
(missense variant)
KCNJ18-related disorder
GBenign
KCNJ18
Single nucleotide variant
(synonymous variant)
KCNJ18-related disorder
GLikely benign
KCNJ18
Single nucleotide variant
(synonymous variant)
KCNJ18-related disorder
GLikely benign
KCNJ18
(R41S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ18
(P122S)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 2
GUncertain significance
KCNJ12, KCNJ18
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KCNJ18
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KCNJ18
(R219C)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 2
GUncertain significance
KCNJ18, LINC02693
+2 more
Copy number gain
See cases
GBenign
KCNJ12, KCNJ18
+4 more
Copy number gain
See cases
GUncertain significance
CCDC144NL-AS1, DHRS7B
+41 more
Copy number gain
See cases
GUncertain significance
KCNJ18
(K366R)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 2
Grisk factor
KCNJ18
(R205H)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 2
Grisk factor
KCNJ18
(T354M)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 2
Grisk factor
KCNJ18
(I144fs)
Deletion
(frameshift variant)
Thyrotoxic periodic paralysis, susceptibility to, 2
Grisk factor
External link. Please review our privacy policy.