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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
FREM1
(W1874C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
FREM1
Duplication
(intron variant)
not specified
+2 more
GBenign/Likely benign
FREM1
(V1719M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
FREM1
(I1708T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FREM1
(Y1647* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
FREM1
(N1576I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
FREM1
(D1571N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
FREM1
(I1497F +1 more)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+4 more
GUncertain significance
FREM1
(R1489Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
FREM1
(S1456N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FREM1
(I1311T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
FREM1
(M1286R)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1
(P1211S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
FREM1
(R1192H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
FREM1
(I1171M)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
FREM1
(Q1162R)
Single nucleotide variant
(missense variant +1 more)
FREM1-related condition
+2 more
GLikely benign
FREM1
Single nucleotide variant
(intron variant)
FREM1-related condition
+2 more
GConflicting classifications of pathogenicity
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
FREM1
(L863V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
FREM1
(R498Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
FREM1
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+2 more
GBenign/Likely benign
FREM1
(G191R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FREM1
(R181W)
Single nucleotide variant
(missense variant +1 more)
FREM1-related condition
+1 more
GConflicting classifications of pathogenicity
FREM1
(L128V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
FREM1
(I98V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
FREM1
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1
(D81N)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
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