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Items: 1 to 100 of 514

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ABCB11, AGPS
+488 more
Copy number loss
See cases
GPathogenic
LOC129935070, LOC129935071
+162 more
Copy number loss
See cases
GPathogenic
ABCB11, ATF2
+269 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
LOC129935084, LOC129935085
+54 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+214 more
Copy number loss
See cases
GPathogenic
SLC25A12
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 39
GUncertain significance
SLC25A12
Single nucleotide variant
(3 prime UTR variant +1 more)
SLC25A12-related disorder
GLikely benign
SLC25A12
(Q678L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
SLC25A12
(T677S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(V674L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(A672fs)
Deletion
(frameshift variant +1 more)
Seizure
+2 more
GConflicting classifications of pathogenicity
SLC25A12
(P670L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(K661Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(F660Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(P658L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(L657F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(L655F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(E650K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(I649M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(G648D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(T645M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(A642T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(Y639H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(G637S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(H635Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC25A12
(N632K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(R624H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(T620I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC25A12
(P619A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(S617fs)
Insertion
(frameshift variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(A615T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A12
(G610E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(I607M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(I607T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(I607F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(W604L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(R603Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(T597I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC25A12
(V593I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(Q590R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 39
GPathogenic
SLC25A12
(S588C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(F585S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SLC25A12
Microsatellite
(intron variant)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SLC25A12
(T580A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(P573S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(G572R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(R569Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(R569W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(L568F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(I567T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(F564L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(D562V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(D562N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(I561V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(V560D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(A552T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(R551C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(A549T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC25A12
(T544R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(I542V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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