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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FREM1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign/Likely benign
FREM1
(Q2143P +1 more)
Single nucleotide variant
(missense variant +2 more)
Oculotrichoanal syndrome
+2 more
GBenign
FREM1
(P534S)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
FREM1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+2 more
GBenign
FREM1
(L1324R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
FREM1
(D1273E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
FREM1
Single nucleotide variant
(intron variant)
Oculotrichoanal syndrome
+2 more
GBenign
FREM1, LOC126860582
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+2 more
GBenign/Likely benign
FREM1
(P820L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FREM1
(S803Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
FREM1
(R498Q)
Single nucleotide variant
(missense variant +1 more)
Irido-corneo-trabecular dysgenesis
+3 more
GConflicting classifications of pathogenicity
FREM1
(V439L)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
FREM1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
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