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Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FRAS1
Single nucleotide variant
(synonymous variant)
FRAS1-related condition
+1 more
GConflicting classifications of pathogenicity
FRAS1
(S24Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FRAS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FRAS1
(R124*)
Single nucleotide variant
(nonsense)
FRAS1-related condition
+2 more
GPathogenic
FRAS1
(P214L)
Single nucleotide variant
(missense variant)
FRAS1-related condition
+2 more
GConflicting classifications of pathogenicity
FRAS1
(L259R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
FRAS1
(R269Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
FRAS1
(R270C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
Fraser syndrome 1
+2 more
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
FRAS1
(R633C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
FRAS1
(G644fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FRAS1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FRAS1
(G935R)
Single nucleotide variant
(missense variant)
Fraser syndrome 1
+2 more
GUncertain significance
FRAS1
(T954M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(intron variant)
Fraser syndrome 1
+2 more
GConflicting classifications of pathogenicity
FRAS1
(R1020C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FRAS1
(S1124fs)
Duplication
(frameshift variant)
not provided
GPathogenic
FRAS1
(E1136K)
Single nucleotide variant
(missense variant)
Fraser syndrome 1
+2 more
GBenign
FRAS1
(E1175K)
Single nucleotide variant
(missense variant)
Fraser syndrome 1
+1 more
GUncertain significance
FRAS1
(H1262Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FRAS1
(D1431N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FRAS1
Single nucleotide variant
(intron variant)
FRAS1-related condition
+3 more
GBenign/Likely benign
FRAS1
(A1455V)
Single nucleotide variant
(missense variant)
Fraser syndrome 1
+1 more
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FRAS1
(R1527W)
Single nucleotide variant
(missense variant)
FRAS1-related condition
+3 more
GConflicting classifications of pathogenicity
FRAS1
(T1577S)
Single nucleotide variant
(missense variant)
FRAS1-related condition
+1 more
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FRAS1
(P1653L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
FRAS1
(D1682E)
Single nucleotide variant
(missense variant)
FRAS1-related condition
+3 more
GConflicting classifications of pathogenicity
FRAS1
(R1709*)
Single nucleotide variant
(nonsense)
Fraser syndrome 1
+1 more
GPathogenic/Likely pathogenic
FRAS1
(H1735Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FRAS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FRAS1
(E2158A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FRAS1
(V2177A)
Single nucleotide variant
(missense variant)
FRAS1-related condition
+3 more
GBenign/Likely benign
FRAS1
(E2195G)
Single nucleotide variant
(missense variant)
FRAS1-related condition
+3 more
GConflicting classifications of pathogenicity
FRAS1
(T2233I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FRAS1
(E2345K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FRAS1
(V2347F)
Single nucleotide variant
(missense variant)
FRAS1-related condition
+3 more
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FRAS1
(K2378E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FRAS1
(Y2517*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FRAS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FRAS1
(R2943W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
Fraser syndrome 1
+2 more
GBenign/Likely benign
FRAS1
(Y2949F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FRAS1
(R3122W)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FRAS1
(H3125Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
FRAS1
(G3185R)
Single nucleotide variant
(missense variant)
FRAS1-related condition
+3 more
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(synonymous variant)
FRAS1-related condition
+2 more
GConflicting classifications of pathogenicity
FRAS1
(R3269Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
FRAS1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
FRAS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
FRAS1
(I3532V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
FRAS1
(T3740K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FRAS1
(P3755L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FRAS1
(N3769S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FRAS1
(V3773L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FRAS1
(I3869V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FRAS1
(K3878N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FRAS1
(V3895I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FRAS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
FRAS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
FRAS1
(H3969Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
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