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Items: 1 to 100 of 189

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
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1330 more
Copy number gain
See cases
GPathogenic
LOC130000987, LOC130000988
+1205 more
Copy number gain
See cases
GPathogenic
LOC130001173, LOC130001174
+1068 more
Copy number gain
See cases
GPathogenic
LOC130001070, LOC130001071
+962 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC130001144, LOC130001145
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
EPPK1, ERICD
+499 more
Copy number gain
See cases
GPathogenic
TOP1MT, TRAPPC9
+373 more
Copy number gain
See cases
GLikely pathogenic
ADCK5, ADGRB1
+375 more
Copy number gain
See cases
GLikely pathogenic
ADGRB1, ARC
+172 more
Copy number loss
See cases
GPathogenic
BOP1, CCDC166
+87 more
Copy number loss
See cases
GPathogenic
ADCK5, ARHGAP39
+120 more
Copy number gain
See cases
GPathogenic
CYC1
Single nucleotide variant
not provided
GBenign
CYC1
Single nucleotide variant
not provided
GLikely benign
CYC1
Single nucleotide variant
not provided
GBenign
CYC1
(A4V)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 6
+2 more
GUncertain significance
CYC1
(A5T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
(G10R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
(V12L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
(V12A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYC1
(R16P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
(G27S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYC1
(A32G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
Mitochondrial complex III deficiency nuclear type 6
+2 more
GBenign
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
(P42L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
(L47W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
(G52R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
Variation
(no sequence alteration)
not provided
GBenign
CYC1
(M76V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CYC1
(M76T)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
CYC1
(A81T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
(V82E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
(S85G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
(E88D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CYC1
(S93fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
CYC1
(P92L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
(P95L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
(W96C)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 6
GPathogenic
CYC1
(L102del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
CYC1
(L101R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
(T108N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
Single nucleotide variant
(splice donor variant)
not specified
GUncertain significance
CYC1
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
CYC1
Insertion
(intron variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYC1
(Q119H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LOC130001365, CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYC1
Deletion
(intron variant)
not provided
GLikely benign
CYC1
Duplication
(splice acceptor variant)
not provided
GLikely benign
CYC1
(N159S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
(D173N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
(E183K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
(A185V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
(G191R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
(Y199F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CYC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYC1
(H205Y)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CYC1
(G206D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
(D209N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
(V211I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYC1
(S213F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYC1
(L215F)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYC1
(G224R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CYC1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
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