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Items: 1 to 100 of 107

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
LOC126860489, LOC126860490
+1963 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
LOC130000705, LOC130000706
+327 more
Copy number loss
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1153 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
CCNE2, CDH17
+109 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+109 more
Copy number loss
See cases
GPathogenic
CPQ, DPY19L4
+139 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+98 more
Copy number loss
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
INTS8
Single nucleotide variant
not provided
GBenign
INTS8
Single nucleotide variant
(intron variant)
INTS8-related disorder
GBenign
INTS8
(Q53L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(E56fs)
Deletion
(frameshift variant +1 more)
Malignant tumor of prostate
GUncertain significance
INTS8
(Q70H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(K76R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
Single nucleotide variant
(synonymous variant +1 more)
INTS8-related disorder
GLikely benign
INTS8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INTS8
(A133T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(K162Q)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GLikely benign
INTS8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INTS8
(G167R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(I187V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(A239V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(L241M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(K244T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(E246K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INTS8
(D298G)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
GPathogenic
INTS8
(R301W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(S315F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
+1 more
GBenign
INTS8
(V341L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(R359*)
Single nucleotide variant
(nonsense +1 more)
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
GLikely pathogenic
INTS8
(N411H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(G437E)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
INTS8
(D452E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(H462R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(S506G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(E513Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(Q515H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(R524G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(R524K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(R539C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(N546Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
INTS8
(Y554C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INTS8
(N564S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(M574V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
Single nucleotide variant
(intron variant)
not provided
GBenign
INTS8
(Q591L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(Q591R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(P605A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(P654R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(R656C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
INTS8
Single nucleotide variant
(intron variant)
INTS8-related disorder
GBenign
INTS8
(T700I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
Single nucleotide variant
(synonymous variant +1 more)
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
+1 more
GBenign
INTS8
(R712W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(G737D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(S755R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
INTS8
(I773V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(R784Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(T792I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(E794V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(I796V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(I816V)
Single nucleotide variant
(missense variant +1 more)
INTS8-related disorder
GLikely benign
INTS8
(I828V)
Single nucleotide variant
(missense variant +1 more)
INTS8-related disorder
GLikely benign
INTS8
Single nucleotide variant
(synonymous variant +1 more)
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
+1 more
GBenign
INTS8
(E906K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
Single nucleotide variant
(splice donor variant)
INTS8-related disorder
GUncertain significance
INTS8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
INTS8
(Y929C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS8
(Q955E)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
GUncertain significance
INTS8
Deletion
(inframe_deletion +1 more)
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
GPathogenic
CCNE2, INTS8
(G402R)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ATP6V0D2, CA1
+53 more
Copy number loss
not provided
GPathogenic
CCNE2, CDH17
+15 more
Copy number gain
not provided
GUncertain significance
ANKRD46, ATP6V0D2
+96 more
Copy number gain
not provided
GPathogenic
LINC02906, LRRC69
+36 more
Copy number loss
not provided
GPathogenic
AARD, ABRA
+141 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+285 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
CFAP418, CCNE2
+11 more
Copy number gain
not provided
GLikely pathogenic
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
DCAF13, CNGB3
+105 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+277 more
Copy number gain
See cases
GPathogenic
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