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Items: 1 to 100 of 315

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD5, ANO10
+1 more
Deletion
(intron variant)
Triglyceride storage disease with ichthyosis
GLikely pathogenic
ABHD5, ANO10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GBenign/Likely benign
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
+1 more
GBenign
ABHD5, ANO10
Microsatellite
(inframe_insertion +3 more)
not provided
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ABHD5, ANO10
(E4A)
Single nucleotide variant
(missense variant +2 more)
Triglyceride storage disease with ichthyosis
+1 more
GConflicting classifications of pathogenicity
ABHD5, ANO10
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
ABHD5, ANO10
(E5K)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ABHD5, ANO10
(E5A)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
ABHD5, ANO10
(E6*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
ABHD5, ANO10
(E7K)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ABHD5, ANO10
(D9Y)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ABHD5, ANO10
(D9V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ABHD5, ANO10
(D9G)
Single nucleotide variant
(missense variant +2 more)
Triglyceride storage disease with ichthyosis
+2 more
GLikely benign
ABHD5, ANO10
(S10T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ABHD5, ANO10
(D12N)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(synonymous variant +2 more)
Triglyceride storage disease with ichthyosis
+1 more
GBenign/Likely benign
ANO10, ABHD5
(G14R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ABHD5, ANO10
(R16fs)
Microsatellite
(frameshift variant +2 more)
Triglyceride storage disease with ichthyosis
GPathogenic
ABHD5, ANO10
(E15K)
Single nucleotide variant
(missense variant +2 more)
Triglyceride storage disease with ichthyosis
+1 more
GUncertain significance
ABHD5, ANO10
(E15G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ANO10, ABHD5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABHD5, ANO10
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABHD5, ANO10
Duplication
(intron variant)
not provided
GLikely benign
ANO10, ABHD5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO10, ABHD5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO10, ABHD5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ABHD5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ABHD5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
ABHD5
(L24F)
Single nucleotide variant
(missense variant +2 more)
ABHD5-related condition
+1 more
GConflicting classifications of pathogenicity
ABHD5
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ABHD5
(T30M)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ABHD5
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ABHD5
(S33*)
Single nucleotide variant
(nonsense +2 more)
Triglyceride storage disease with ichthyosis
GPathogenic
ABHD5
(C45S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABHD5
Single nucleotide variant
(splice donor variant)
ABHD5-related condition
GLikely pathogenic
ABHD5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABHD5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5
Single nucleotide variant
(intron variant)
not provided
GBenign
ABHD5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABHD5
Single nucleotide variant
(splice acceptor variant)
Triglyceride storage disease with ichthyosis
GPathogenic
ABHD5
(P47L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABHD5
(T8A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABHD5
(R15H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABHD5
(I57V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABHD5
(K26N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABHD5
(F27L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
ABHD5
(I72T +1 more)
Single nucleotide variant
(missense variant +1 more)
Triglyceride storage disease with ichthyosis
+2 more
GBenign/Likely benign
ABHD5
(N33S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
Triglyceride storage disease with ichthyosis
+1 more
GConflicting classifications of pathogenicity
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD5
(L47V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABHD5
(F54fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABHD5
(C99G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABHD5
(T100S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABHD5
(Y105C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABHD5
(G113R +1 more)
Single nucleotide variant
(missense variant +1 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
(R114* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
ABHD5
(R114L +1 more)
Single nucleotide variant
(missense variant +1 more)
Triglyceride storage disease with ichthyosis
+1 more
GBenign/Likely benign
ABHD5
(S115N +1 more)
Single nucleotide variant
(missense variant +1 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
(P118T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ABHD5
(D80V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ABHD5
(V127M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABHD5
(N129S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABHD5
(Q130P +1 more)
Single nucleotide variant
(missense variant +1 more)
Triglyceride storage disease with ichthyosis
GPathogenic
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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