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Links from Gene

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQCE, LOC126859928
(S130G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IQCE, LOC126859928
(Q26L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IQCE
(A475fs +2 more)
Duplication
(frameshift variant)
Polydactyly, postaxial, type a7
GLikely pathogenic
IQCE, LOC129997827
Single nucleotide variant
(5 prime UTR variant)
IQCE-related condition
GLikely benign
IQCE
Copy number loss
Polydactyly, postaxial, type a7
GLikely pathogenic
IQCE, LOC126859928
(V106I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IQCE, LOC126859928
(G108S +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IQCE, LOC126859928
(R54K +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
IQCE, LOC126859928
(G93S +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IQCE, LOC126859928
Single nucleotide variant
(synonymous variant)
Polydactyly, postaxial, type a7
+1 more
GBenign
IQCE, LOC129997827
(M1I)
Single nucleotide variant
(missense variant +2 more)
Polydactyly, postaxial, type a7
GLikely pathogenic
IQCE, LOC126859928
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IQCE, LOC126859928
(H101N +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IQCE, LOC126859928
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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