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Items: 1 to 100 of 2059

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACY3, AIP
+206 more
Copy number loss
See cases
GLikely pathogenic
ACY3, AIP
+98 more
Copy number loss
See cases
GPathogenic
ACTE1P, ANO1
+184 more
Copy number loss
See cases
GLikely pathogenic
C11orf24, CPT1A
+96 more
Copy number gain
See cases
GLikely benign
LOC130006248, LRP5
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LRP5
Deletion
(5 prime UTR variant)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
LRP5
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GPathogenic
LRP5
(M1V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(A4G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(P5A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(P5L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
(P6T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Osteogenesis imperfecta
+2 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
(G7R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(P8T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Duplication
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(W10*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Osteoporosis with pseudoglioma
GPathogenic
LRP5
(P11S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Microsatellite
(5 prime UTR variant +1 more)
Osteogenesis imperfecta
+3 more
GConflicting classifications of pathogenicity
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Microsatellite
(5 prime UTR variant +1 more)
Exudative vitreoretinopathy 1
+8 more
GUncertain significance
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
Microsatellite
(5 prime UTR variant +1 more)
Osteogenesis imperfecta
+3 more
GBenign/Likely benign
LRP5
(L20del)
Microsatellite
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
LRP5
(L12P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(L12Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Exudative vitreoretinopathy 1
+9 more
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
Insertion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Insertion
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
(L16fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GPathogenic
LRP5
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(L15V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
Insertion
(5 prime UTR variant +1 more)
LRP5-related disorder
+1 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
Duplication
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(L20P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
(L22P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(C23G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(G24D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
LRP5
(C25S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(C25R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Deletion
(splice donor variant)
not provided
GLikely pathogenic
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
(A27V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(A27G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LRP5
(P28del)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
LRP5-related disorder
GLikely benign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
LRP5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
+10 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
LRP5-related disorder
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP5
(S32L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
LRP5
(P33L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
(N39S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(R40G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(R40H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(R41W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(R41Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LRP5
(V43I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
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