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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAFAH1B1
(R13Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAFAH1B1
(D38N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAFAH1B1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PAFAH1B1
(D141N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAFAH1B1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
PAFAH1B1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PAFAH1B1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
PAFAH1B1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PAFAH1B1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PAFAH1B1
Single nucleotide variant
(synonymous variant)
PAFAH1B1-related condition
+2 more
GBenign/Likely benign
PAFAH1B1
(K303fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PAFAH1B1
(I320V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PAFAH1B1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PAFAH1B1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
PAFAH1B1
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
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