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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOK7
Single nucleotide variant
(5 prime UTR variant)
DOK7-related condition
+1 more
GBenign/Likely benign
DOK7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DOK7
(K28Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DOK7
(S45L)
Single nucleotide variant
(missense variant +1 more)
Fetal akinesia deformation sequence 1
+3 more
GBenign/Likely benign
DOK7
(R54H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DOK7
(G68S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DOK7
(Y71F)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 10
+3 more
GUncertain significance
DOK7
Single nucleotide variant
(no sequence alteration +1 more)
Fetal akinesia deformation sequence 3
+3 more
GBenign
DOK7
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DOK7, LOC126806951
(S193G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
DOK7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DOK7, LOC129992118
(G248R)
Single nucleotide variant
(missense variant +2 more)
Congenital myasthenic syndrome 10
+2 more
GBenign
DOK7
(Q296R +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Congenital myasthenic syndrome 10
+2 more
GBenign
DOK7
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
DOK7
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+3 more
GBenign/Likely benign
DOK7
(K176fs +2 more)
Deletion
(3 prime UTR variant +1 more)
Fetal akinesia deformation sequence 1
+2 more
GPathogenic
DOK7
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DOK7
(R332C +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
DOK7
(S336L +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DOK7
Single nucleotide variant
(3 prime UTR variant +1 more)
Fetal akinesia deformation sequence 1
+3 more
GConflicting classifications of pathogenicity
DOK7
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 10
+2 more
GBenign
DOK7
(A234fs +2 more)
Duplication
(3 prime UTR variant +1 more)
Fetal akinesia deformation sequence 3
+8 more
GPathogenic
DOK7
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 10
+2 more
GBenign
DOK7
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
DOK7
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
DOK7
(P415S +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
DOK7
(P420A +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DOK7
Single nucleotide variant
(3 prime UTR variant +1 more)
Fetal akinesia deformation sequence 1
+3 more
GConflicting classifications of pathogenicity
DOK7
(R432K +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fetal akinesia deformation sequence 1
+3 more
GBenign/Likely benign
DOK7
Single nucleotide variant
(3 prime UTR variant +1 more)
Fetal akinesia deformation sequence 1
+2 more
GConflicting classifications of pathogenicity
DOK7
Single nucleotide variant
(3 prime UTR variant +1 more)
Fetal akinesia deformation sequence 1
+2 more
GConflicting classifications of pathogenicity
DOK7
(G436S +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fetal akinesia deformation sequence 1
+3 more
GUncertain significance
DOK7
(T438R +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
DOK7-related condition
+3 more
GConflicting classifications of pathogenicity
DOK7
(G441R +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fetal akinesia deformation sequence 1
+3 more
GUncertain significance
DOK7
(R451W +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
DOK7
(G461D +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
DOK7
Deletion
(inframe_deletion +1 more)
Fetal akinesia deformation sequence 1
+2 more
GUncertain significance
DOK7
(G468D +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 10
+2 more
GUncertain significance
DOK7
(A482V +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GUncertain significance
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