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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD12
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
ABHD12
Single nucleotide variant
(synonymous variant)
ABHD12-related condition
+1 more
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(synonymous variant)
PHARC syndrome
+2 more
GBenign
ABHD12
(R355Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABHD12
Single nucleotide variant
(synonymous variant)
PHARC syndrome
+1 more
GConflicting classifications of pathogenicity
ABHD12
Microsatellite
(intron variant)
ABHD12-related condition
+1 more
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
ABHD12
(D135E)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
ABHD12, LOC130065586
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
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