U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 573

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
ADHFE1, ALKAL1
+491 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
ASPH, BHLHE22
+222 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+421 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARMC1
+150 more
Copy number gain
See cases
GPathogenic
ASPH, BHLHE22
+79 more
Copy number loss
See cases
GPathogenic
ADHFE1, ARFGEF1
+417 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+228 more
Copy number loss
See cases
GPathogenic
BHLHE22, BHLHE22-AS1
+12 more
Copy number loss
See cases
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
CYP7B1-related disorder
GLikely benign
CYP7B1
(G421E)
Single nucleotide variant
(missense variant)
CYP7B1-related disorder
GLikely benign
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 5A
GBenign
CYP7B1
Single nucleotide variant
(intron variant +1 more)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 5A
+1 more
GBenign/Likely benign
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
(K503E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CYP7B1
(Y502C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CYP7B1
(D495E)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
(P494L)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
(P494Q)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(Q492*)
Single nucleotide variant
(nonsense +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
(G490C)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
(L487F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP7B1
(L487fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(R486H)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+2 more
GUncertain significance
CYP7B1
(R486S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CYP7B1
(R486C)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 5A
+4 more
GPathogenic/Likely pathogenic
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
(G481V)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
(G481R)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
(I480T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP7B1
(I480V)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
(D477G)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
(F470S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP7B1
(F470I)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 5A
GPathogenic
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
(T468fs)
Deletion
(frameshift variant +1 more)
Spastic paraplegia
GPathogenic
CYP7B1
(T468I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CYP7B1
(L467S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CYP7B1
(V464I)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
(I459T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP7B1
(M457I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
(R452Q)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
(R452*)
Single nucleotide variant
(nonsense +1 more)
Spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
CYP7B1
Deletion
(inframe_deletion +1 more)
Spastic paraplegia
GPathogenic
CYP7B1
(C449Y)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
(G443A)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
CYP7B1
(P441L)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 5A
+1 more
GUncertain significance
CYP7B1
Indel
(nonsense +1 more)
Hereditary spastic paraplegia 5A
GPathogenic
CYP7B1
(C437Y)
Single nucleotide variant
(missense variant +1 more)
Spastic Paraplegia, Recessive
+2 more
GUncertain significance
CYP7B1
(C437G)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia
GUncertain significance
CYP7B1
(L435P)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia
GUncertain significance
CYP7B1
(K433E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP7B1
(G432fs)
Deletion
(frameshift variant +1 more)
Spastic paraplegia
GPathogenic
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
(K430fs)
Duplication
(frameshift variant +1 more)
Spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
CYP7B1
(K423*)
Duplication
(nonsense +1 more)
Spastic paraplegia
GPathogenic
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
CYP7B1
(I419T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CYP7B1
(F418fs)
Deletion
(frameshift variant +1 more)
Spastic paraplegia
GPathogenic
CYP7B1
(R417H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
CYP7B1
(R417C)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+2 more
GPathogenic
CYP7B1
(D416del)
Deletion
(inframe_deletion +1 more)
not specified
GUncertain significance
CYP7B1
(E412K)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
CYP7B1
Single nucleotide variant
(intron variant +1 more)
Spastic paraplegia
GPathogenic
CYP7B1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
CYP7B1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP7B1
Deletion
(intron variant)
not provided
GBenign
CYP7B1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP7B1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP7B1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
Format
Items per page
Sort by
Choose Destination