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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBLN1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
FBLN1
(R90C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBLN1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
FBLN1
(G96S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBLN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FBLN1
(A118V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBLN1
(S331Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBLN1
(V338M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
FBLN1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
FBLN1
(A361V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBLN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
FBLN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FBLN1
Single nucleotide variant
(intron variant)
FBLN1-related condition
+2 more
GBenign/Likely benign
FBLN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
FBLN1
(R562C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBLN1
(R642L)
Single nucleotide variant
(missense variant)
FBLN1-related condition
+2 more
GBenign/Likely benign
FBLN1
(H695R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
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