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Links from MedGen

Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FREM1
(M1T)
Single nucleotide variant
(non-coding transcript variant +2 more)
BNAR syndrome
GPathogenic
FREM1
(P291fs +1 more)
Deletion
(frameshift variant +1 more)
BNAR syndrome
GPathogenic
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
FREM1
Deletion
(intron variant)
Trigonocephaly 2
+3 more
GBenign/Likely benign
FREM1
Single nucleotide variant
(intron variant)
Trigonocephaly 2
+3 more
GBenign/Likely benign
FREM1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+3 more
GLikely benign
FREM1, LOC126860582
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+3 more
GLikely benign
FREM1
(T116S)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 2
+3 more
GUncertain significance
FREM1
Single nucleotide variant
(intron variant)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1
(I467N +2 more)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+3 more
GUncertain significance
FREM1
Single nucleotide variant
(non-coding transcript variant +1 more)
Oculotrichoanal syndrome
+3 more
GLikely benign
FREM1
(R413C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
FREM1
(N1287S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
FREM1
(R680C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
FREM1
(G29R +1 more)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1
(Q211* +1 more)
Single nucleotide variant
(missense variant +2 more)
BNAR syndrome
GLikely pathogenic
FREM1
(V453I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
FREM1
Deletion
BNAR syndrome
GPathogenic
FREM1
(T681I)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 2
+2 more
GUncertain significance
FREM1
(I596V)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
GUncertain significance
FREM1
(D308H +1 more)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+2 more
GUncertain significance
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
FREM1
(S1730A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
FREM1
(R817Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
FREM1
(A1173S)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
FREM1
(D1181V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
FREM1
(L182V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
FREM1
Single nucleotide variant
(intron variant)
BNAR syndrome
+2 more
GUncertain significance
FREM1
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+3 more
GConflicting classifications of pathogenicity
FREM1
(G966S)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+3 more
GUncertain significance
FREM1
(R1352T)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+2 more
GUncertain significance
FREM1
(G1357R)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+3 more
GUncertain significance
FREM1
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+3 more
GBenign/Likely benign
FREM1
(H227R +1 more)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+2 more
GUncertain significance
FREM1
(R632G +2 more)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+2 more
GUncertain significance
FREM1
(A547V +2 more)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1
(T1188A)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
FREM1
Single nucleotide variant
(synonymous variant +1 more)
BNAR syndrome
+3 more
GLikely benign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
BNAR syndrome
+3 more
GLikely benign
FREM1
(I541V)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+3 more
GBenign/Likely benign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
BNAR syndrome
+3 more
GLikely benign
FREM1
(A1050T)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 2
+2 more
GUncertain significance
FREM1
(Y1750C +1 more)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 2
+2 more
GUncertain significance
FREM1
(I1171M)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
FREM1
(V1719M +1 more)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+3 more
GConflicting classifications of pathogenicity
FREM1
(P193R)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1
(V34L)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+1 more
GUncertain significance
FREM1
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+3 more
GBenign/Likely benign
FREM1
(A184T)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+4 more
GUncertain significance
FREM1
(R449W)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+2 more
GUncertain significance
FREM1
(S705G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1
(H724Y)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+2 more
GUncertain significance
FREM1
(T807S)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1, LOC126860582
(R932H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
FREM1
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+3 more
GConflicting classifications of pathogenicity
FREM1
(I1302V)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 2
+3 more
GUncertain significance
FREM1
(A1518S +1 more)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+2 more
GUncertain significance
FREM1
(G2035E +2 more)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1
(V2152I +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
FREM1
(I98V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
FREM1
(L128V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
FREM1
(D81N)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
FREM1
(M1286R)
Single nucleotide variant
(missense variant +1 more)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1
(S1471N)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
FREM1
Single nucleotide variant
(synonymous variant +1 more)
Oculotrichoanal syndrome
+3 more
GUncertain significance
FREM1
(I1497F +1 more)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+4 more
GUncertain significance
FREM1
(K699fs)
Deletion
(frameshift variant +1 more)
Oculotrichoanal syndrome
+3 more
GPathogenic/Likely pathogenic
FREM1
(G1440S)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
GPathogenic
FREM1
(R649W)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
GPathogenic
FREM1, LOC126860582
(V908fs)
Deletion
(frameshift variant +1 more)
BNAR syndrome
GPathogenic
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