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Items: 1 to 100 of 101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126805769, LOC126805770
+548 more
Copy number gain
See cases
GPathogenic
ABCD3, F3
+5 more
Duplication
Normal pregnancy
Gnot provided
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
(L15V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCD3
(G17D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCD3
(G41E)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
Duplication
(intron variant)
not provided
GBenign
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
(G52V)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 5
+1 more
GBenign
ABCD3
(K53E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCD3
(K54R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
(K61M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCD3
(I110S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3, F3
+2 more
Copy number loss
See cases
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
(R117C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
(A131T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCD3
(R157K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
Microsatellite
(intron variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
(I225V)
Single nucleotide variant
(missense variant)
ABCD3-related condition
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCD3
(A231V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
(A235V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
(R271W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ABCD3
(R297Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
(L303I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
(M313V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ABCD3
(R335H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
(P343H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
(R344*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
(M367L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCD3
(Q414R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ABCD3
Microsatellite
(intron variant)
not provided
GBenign
ABCD3
(E419K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCD3
(V423D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ABCD3
(P425L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCD3
(L426V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
(I427L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ABCD3
(R457*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
(F461Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
(L486F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
(R496C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Deletion
(intron variant)
not provided
GBenign
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
(K543Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCD3
(G552S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
(V570I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
(H612R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCD3
Single nucleotide variant
(intron variant)
Congenital bile acid synthesis defect 5
GBenign
ABCD3
(H632Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(splice donor variant)
not specified
GUncertain significance
ABCD3
Deletion
(splice acceptor variant)
Congenital bile acid synthesis defect 5
GPathogenic
ABCD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCD3
(M639I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
ABCA4, ABCD3
+5 more
Deletion
not provided
GPathogenic
ABCA4, ABCD3
+11 more
Copy number loss
not provided
GUncertain significance
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
ABCA4, ABCD3
+97 more
Copy number gain
not provided
GPathogenic
ADSS2, SPSB1
+2016 more
Copy number gain
not provided
GPathogenic
SLC16A1, SLC16A4
+2017 more
Copy number gain
not provided
GPathogenic
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
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