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Items: 1 to 100 of 231

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC01708, LINC01709
+549 more
Copy number gain
See cases
GPathogenic
AGL, AKNAD1
+195 more
Copy number loss
See cases
GPathogenic
AGL, AHCYL1
+333 more
Copy number loss
See cases
GPathogenic
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CDC14A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CDC14A
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 32
+1 more
GBenign
CDC14A
Single nucleotide variant
(no sequence alteration +1 more)
not specified
GLikely benign
CDC14A
Deletion
(5 prime UTR variant +1 more)
not specified
GLikely benign
CDC14A
(G10R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CDC14A
(A11T)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CDC14A
(C12Y)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CDC14A
Single nucleotide variant
(intron variant)
CDC14A-related disorder
GLikely benign
CDC14A, LOC129931026
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A, LOC129931026
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 32
GLikely pathogenic
CDC14A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDC14A
(N33S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
CDC14A
(N68S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDC14A
(K14E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
(I23M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDC14A
(Y26C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
(T27S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDC14A
(A43V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDC14A
(A43G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
CDC14A
Deletion
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
(A114T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDC14A
(R116G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
(A117T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDC14A
(Y68fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CDC14A
(P124A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
(P125L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
(P125H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CDC14A
(P67R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14A
(Y126fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 32
GPathogenic
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
(A74S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14A
(Y139* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 32
GPathogenic
CDC14A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 32
+2 more
GLikely benign
CDC14A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDC14A
(F101Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
(T105K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDC14A
(H113L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
CDC14A
(R116* +1 more)
Single nucleotide variant
(nonsense +1 more)
Rare genetic deafness
GLikely pathogenic
CDC14A
(V117I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDC14A
(N181S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
CDC14A
(P136R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
CDC14A
(P138S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
Duplication
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CDC14A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC14A
(Y146* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
CDC14A
(P147S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
(A153V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
(A153G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
(Y174fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CDC14A
(R178C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDC14A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
CDC14A
(G183D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDC14A
(I192V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CDC14A
Single nucleotide variant
(synonymous variant +1 more)
CDC14A-related disorder
GLikely benign
CDC14A
(V202M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDC14A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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