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Links from MedGen

Items: 1 to 100 of 427

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FREM2
(V2793fs)
Deletion
(frameshift variant)
Fraser syndrome 2
GLikely pathogenic
FREM2
(V1826A)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
FREM2
(V2516fs)
Duplication
(frameshift variant)
Fraser syndrome 2
GLikely pathogenic
FREM2
(T817A)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
FREM2
(Q897*)
Single nucleotide variant
(nonsense)
Fraser syndrome 2
GPathogenic
FREM2
(F2228fs)
Duplication
(frameshift variant)
Fraser syndrome 2
GLikely pathogenic
FREM2
(Q1051*)
Single nucleotide variant
(nonsense)
Fraser syndrome 2
GLikely pathogenic
FREM2
(H1384Y)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+3 more
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
Isolated cryptophthalmia
+2 more
GLikely benign
FREM2
Single nucleotide variant
(intron variant)
Isolated cryptophthalmia
+2 more
GBenign/Likely benign
FREM2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
FREM2
Insertion
(intron variant)
Fraser syndrome 2
+2 more
GBenign/Likely benign
FREM2
(V2743M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FREM2
(R692H)
Single nucleotide variant
(missense variant)
Isolated cryptophthalmia
+2 more
GUncertain significance
FREM2
(R698H)
Single nucleotide variant
(missense variant)
Isolated cryptophthalmia
+2 more
GUncertain significance
FREM2
(D2368V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FREM2
(Y1629C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FREM2
(T1480M)
Single nucleotide variant
(missense variant)
Isolated cryptophthalmia
+2 more
GUncertain significance
FREM2
(V825M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FREM2
(N1323H)
Single nucleotide variant
(missense variant)
Isolated cryptophthalmia
+2 more
GUncertain significance
FREM2
(V996D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
FREM2
(K2284N)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
Isolated cryptophthalmia
+2 more
GLikely benign
FREM2
(N276D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FREM2
(P3155S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FREM2
(P465L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FREM2
(P398A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FREM2
(I1238V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FREM2
(M428I)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
(D2456N)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
(R2781H)
Single nucleotide variant
(missense variant)
Isolated cryptophthalmia
+2 more
GUncertain significance
FREM2
(H845Y)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GLikely pathogenic
FREM2
(P1221S)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GLikely pathogenic
FREM2
(L2037M)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
(G294D)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
(F1277C)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
Single nucleotide variant
(intron variant)
Fraser syndrome 2
+2 more
GBenign
FREM2
(S768*)
Single nucleotide variant
(nonsense)
Fraser syndrome 2
GPathogenic
FREM2
Single nucleotide variant
(synonymous variant)
Fraser syndrome 2
+3 more
GLikely benign
FREM2
Duplication
(splice donor variant)
Fraser syndrome 1
+3 more
GConflicting classifications of pathogenicity
FREM2
(G2034V)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
FREM2
(T251fs)
Microsatellite
(frameshift variant)
Fraser syndrome 2
GPathogenic
FREM2
(F1722fs)
Duplication
(frameshift variant)
Isolated cryptophthalmia
+2 more
GPathogenic/Likely pathogenic
FREM2
(G134fs)
Deletion
(frameshift variant)
Fraser syndrome 2
GPathogenic
FREM2
(Q644*)
Single nucleotide variant
(nonsense)
Fraser syndrome 2
GPathogenic
FREM2
(G2063fs)
Indel
(frameshift variant)
Fraser syndrome 2
GPathogenic
FREM2
(D423fs)
Deletion
(frameshift variant)
Fraser syndrome 2
GPathogenic
FREM2
(D1513G)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GLikely pathogenic
FREM2
(P22L)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
Single nucleotide variant
(5 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GLikely benign
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FREM2
(R2625S)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+3 more
GUncertain significance
FREM2
Single nucleotide variant
(intron variant)
Fraser syndrome 2
GUncertain significance
FREM2
(S2123P)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+1 more
GUncertain significance
FREM2
(Q1832K)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(intron variant)
Fraser syndrome 2
GUncertain significance
FREM2
(R1793H)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+1 more
GUncertain significance
FREM2
(V1437I)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
FREM2
(R1391Q)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FREM2
(L449V)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GBenign
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GLikely benign
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GUncertain significance
FREM2
Single nucleotide variant
(3 prime UTR variant)
Fraser syndrome 2
GBenign
FREM2
Single nucleotide variant
(intron variant)
Fraser syndrome 2
GUncertain significance
FREM2
(A2481T)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
(R2477W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FREM2
(E2112K)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
FREM2
(R2066G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FREM2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FREM2
(D1729N)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
FREM2
(A1664V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FREM2
(T1303M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FREM2
(P789L)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+1 more
GUncertain significance
FREM2
(A777V)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
FREM2
(V770L)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
Fraser syndrome 2
GUncertain significance
FREM2
(G263S)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+1 more
GUncertain significance
FREM2
(A1215V)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
FREM2
(Q1190P)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
FREM2
(G1130E)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
GUncertain significance
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