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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FREM2
(R13Q)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+1 more
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
FREM2
Single nucleotide variant
(synonymous variant)
FREM2-related condition
+3 more
GConflicting classifications of pathogenicity
FREM2
(A61P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FREM2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FREM2
(S527L)
Single nucleotide variant
(missense variant)
FREM2-related condition
+3 more
GConflicting classifications of pathogenicity
FREM2
Single nucleotide variant
(synonymous variant)
Fraser syndrome 2
+1 more
GConflicting classifications of pathogenicity
FREM2
(R710C)
Single nucleotide variant
(missense variant)
FREM2-related condition
+3 more
GConflicting classifications of pathogenicity
FREM2
(M711I)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+3 more
GBenign/Likely benign
FREM2
(R727H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
FREM2
Single nucleotide variant
(no sequence alteration)
Fraser syndrome 2
+2 more
GBenign
FREM2
Single nucleotide variant
(synonymous variant)
Fraser syndrome 2
+3 more
GBenign
FREM2
Single nucleotide variant
(synonymous variant)
FREM2-related condition
+3 more
GConflicting classifications of pathogenicity
FREM2
(C914G)
Single nucleotide variant
(missense variant)
FREM2-related condition
+2 more
GConflicting classifications of pathogenicity
FREM2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
FREM2
(R934Q)
Single nucleotide variant
(missense variant)
Isolated cryptophthalmia
+2 more
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
FREM2-related condition
+3 more
GConflicting classifications of pathogenicity
FREM2
Duplication
(inframe_insertion)
not specified
+2 more
GConflicting classifications of pathogenicity
FREM2
(F1070S)
Single nucleotide variant
(missense variant)
Isolated cryptophthalmia
+4 more
GBenign/Likely benign
FREM2
(S1262T)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
(G1428E)
Single nucleotide variant
(missense variant)
Isolated cryptophthalmia
+2 more
GUncertain significance
FREM2
(T1441A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FREM2
(L1444P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FREM2
(R1523C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FREM2
(D1530H)
Single nucleotide variant
(missense variant)
Isolated cryptophthalmia
+2 more
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
FREM2
(R1668H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
FREM2
(E1687S)
Inversion
(missense variant)
not provided
+3 more
GUncertain significance
FREM2
(G1707E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FREM2
(L1759S)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
FREM2
(D1953G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FREM2
(M1985fs)
Duplication
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
FREM2
(P2002S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FREM2
(D2006H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FREM2
(A2091V)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FREM2
(E2141K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FREM2
(C2164R)
Single nucleotide variant
(missense variant)
Isolated cryptophthalmia
+2 more
GUncertain significance
FREM2
(R2167W)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
FREM2
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FREM2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FREM2
(I2287T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FREM2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
FREM2
Single nucleotide variant
(synonymous variant)
Fraser syndrome 2
+1 more
GConflicting classifications of pathogenicity
FREM2
(A2393T)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+2 more
GConflicting classifications of pathogenicity
FREM2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
FREM2
Single nucleotide variant
(synonymous variant)
FREM2-related condition
+4 more
GBenign/Likely benign
FREM2
Duplication
(intron variant)
Fraser syndrome 2
+3 more
GBenign
FREM2
Duplication
(intron variant)
Fraser syndrome 2
+3 more
GBenign/Likely benign
FREM2
Insertion
(intron variant)
not provided
GConflicting classifications of pathogenicity
FREM2, LOC130009588
Single nucleotide variant
(synonymous variant)
Fraser syndrome 2
+3 more
GBenign/Likely benign
FREM2
(G2736S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
Fraser syndrome 2
+3 more
GBenign/Likely benign
FREM2
(V2968I)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+5 more
GBenign/Likely benign
FREM2
(L2969P)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+3 more
GUncertain significance
FREM2
(K2973R)
Single nucleotide variant
(missense variant)
Fraser syndrome 2
+1 more
GUncertain significance
FREM2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FREM2
(T3013M)
Single nucleotide variant
(missense variant)
FREM2-related condition
+2 more
GConflicting classifications of pathogenicity
FREM2
(N3024S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
FREM2
(V3038A)
Single nucleotide variant
(missense variant)
FREM2-related condition
+2 more
GConflicting classifications of pathogenicity
FREM2
(T3113A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
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