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Items: 1 to 100 of 563

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
ADHFE1, ALKAL1
+489 more
Copy number gain
See cases
GPathogenic
LINC02894, LINC02906
+1960 more
Copy number gain
See cases
GPathogenic
ASPH, BHLHE22
+222 more
Copy number gain
See cases
GPathogenic
LOC130000438, LOC130000439
+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
(intron 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)
Hereditary spastic paraplegia 5A
+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)
CYP7B1-related disorder
+5 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
(intron 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)
Spastic paraplegia
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)
not provided
+2 more
GPathogenic/Likely pathogenic
CYP7B1
Deletion
(intron variant +1 more)
Spastic paraplegia
GPathogenic
CYP7B1
(C449Y)
Single nucleotide variant
(missense variant +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
(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)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
Indel
(nonsense +1 more)
Hereditary spastic paraplegia 5A
GPathogenic
CYP7B1
(C437Y)
Single nucleotide variant
(missense variant +1 more)
Congenital bile acid synthesis defect
+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
(intron 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)
Hereditary spastic paraplegia 5A
+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
(intron variant +1 more)
Spastic paraplegia
GPathogenic
CYP7B1
(R417H)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+4 more
GPathogenic/Likely pathogenic
CYP7B1
(R417C)
Single nucleotide variant
(missense variant +1 more)
not provided
+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
(splice acceptor 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
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