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Links from MedGen

Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD5
Deletion
Triglyceride storage disease with ichthyosis
GLikely pathogenic
ABHD5, ANO10
+1 more
Deletion
(intron variant)
Triglyceride storage disease with ichthyosis
GLikely pathogenic
ABHD5
(G113R +1 more)
Single nucleotide variant
(missense variant +1 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
(E295* +2 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD5
(R239* +1 more)
Single nucleotide variant
(nonsense +2 more)
Triglyceride storage disease with ichthyosis
GLikely pathogenic
ABHD5
(Q238fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
ABHD5
(Y229* +1 more)
Single nucleotide variant
(nonsense +2 more)
Triglyceride storage disease with ichthyosis
GPathogenic
ABHD5
(R143* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
(C140G +1 more)
Single nucleotide variant
(missense variant +1 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
(K26N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5, ANO10
(E15K)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
ABHD5, ANO10
(E4A)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GLikely benign
ABHD5
Single nucleotide variant
(3 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
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
(M266T)
Single nucleotide variant
(synonymous variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(intron variant)
Triglyceride storage disease with ichthyosis
+1 more
GConflicting classifications of pathogenicity
ABHD5
Single nucleotide variant
(synonymous variant +1 more)
Triglyceride storage disease with ichthyosis
+1 more
GConflicting classifications of pathogenicity
ABHD5
(T203fs +1 more)
Duplication
(frameshift variant)
Triglyceride storage disease with ichthyosis
+1 more
GPathogenic/Likely pathogenic
ABHD5
(G230R +1 more)
Single nucleotide variant
(missense variant +2 more)
Triglyceride storage disease with ichthyosis
GPathogenic
ABHD5
Single nucleotide variant
(intron variant)
Triglyceride storage disease with ichthyosis
+1 more
GConflicting classifications of pathogenicity
ABHD5
(I72T +1 more)
Single nucleotide variant
(missense variant +1 more)
Triglyceride storage disease with ichthyosis
+2 more
GBenign/Likely benign
ABHD5
(F27L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
ABHD5
(R312* +1 more)
Single nucleotide variant
(nonsense +2 more)
Triglyceride storage disease with ichthyosis
GPathogenic
ABHD5
(S115N +1 more)
Single nucleotide variant
(missense variant +1 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
(R114L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
ABHD5, ANO10
Single nucleotide variant
(5 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
+1 more
GBenign/Likely benign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GLikely benign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(non-coding transcript variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GLikely benign
ABHD5
Microsatellite
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Deletion
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Deletion
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Duplication
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Duplication
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Deletion
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Deletion
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Insertion
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GLikely benign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GUncertain significance
ABHD5
Single nucleotide variant
(3 prime UTR variant +2 more)
Triglyceride storage disease with ichthyosis
GBenign
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