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Links from Gene

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQCK, LOC130058599
(V12A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
IQCK, LOC130058599
(R5Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IQCK, LOC130058599
(T31I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
IQCK, LOC105371115
(I192L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
IQCK, LOC130058599
(M1L)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GBenign
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