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Items: 86

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
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
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
LOC110120802, LOC111556135
+93 more
Copy number loss
See cases
GPathogenic
AARD, ANXA13
+315 more
Copy number loss
See cases
GPathogenic
MTBP, RAD21
+101 more
Copy number loss
See cases
GPathogenic
LOC130001070, LOC130001071
+962 more
Copy number gain
See cases
GPathogenic
AARD, CCN3
+108 more
Copy number loss
See cases
GPathogenic
AARD, CCN3
+106 more
Copy number loss
See cases
GPathogenic
LOC130001241, LOC130001242
+559 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
CCN3, COL14A1
+55 more
Copy number loss
See cases
GPathogenic
SAMD12
Copy number gain
See cases
GLikely benign
SAMD12
Microsatellite
Epilepsy, familial adult myoclonic, 1
GPathogenic
SAMD12
(I201N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SAMD12
(Q200R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SAMD12
(I199T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
SAMD12
(Q126K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SAMD12
(M122T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SAMD12
(M112K +1 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
SAMD12
(R111L +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 1
GUncertain significance
SAMD12
Copy number loss
See cases
GLikely benign
LOC126860479, SAMD12
(T107I)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
LOC126860479, SAMD12
(S98R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
LOC126860479, SAMD12
(R98W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126860479, SAMD12
(L86F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126860479, SAMD12
(P73L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SAMD12
(R55Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SAMD12
(Q49K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SAMD12
(Q36E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SAMD12
(I24V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SAMD12
(G14S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SAMD12
Single nucleotide variant
(intron variant)
Epilepsy, familial adult myoclonic, 1
GUncertain significance
AARD, EIF3H
+9 more
Deletion
not provided
GPathogenic
CCN3, AARD
+14 more
Deletion
Trichorhinophalangeal syndrome, type III
+1 more
GPathogenic
AARD, CCN3
+14 more
Duplication
Trichorhinophalangeal syndrome, type III
+2 more
GUncertain significance
CCN3, COL14A1
+12 more
Deletion
Multiple congenital exostosis
GPathogenic
ADCY8, ANXA13
+51 more
Copy number loss
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
NRBP2, NSMCE2
+173 more
Copy number gain
not provided
GPathogenic
ANXA13, ATAD2
+41 more
Copy number loss
Exostoses, multiple, type 1
GPathogenic
AARD, CCN3
+10 more
Deletion
not provided
GPathogenic
CCN3, COLEC10
+6 more
Duplication
not provided
GUncertain significance
AARD, CCN3
+12 more
Duplication
Multiple congenital exostosis
GUncertain significance
CCN3, COLEC10
+9 more
Copy number gain
not provided
GUncertain significance
AARD, ADCY8
+63 more
Copy number loss
not provided
GPathogenic
CCN3, COL14A1
+12 more
Copy number loss
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
FZD6, PCAT1
+236 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+28 more
Copy number loss
not specified
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
SAMD12
Copy number gain
not provided
GUncertain significance
AARD, ANGPT1
+35 more
Copy number gain
not provided
GPathogenic
SAMD12
Copy number gain
not provided
GUncertain significance
SAMD12, TNFRSF11B
+2 more
Copy number loss
not provided
GPathogenic
AARD, CCN3
+23 more
Copy number loss
not provided
GPathogenic
SAMD12
Microsatellite
Epilepsy, familial adult myoclonic, 1
GPathogenic
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
PCAT1, POU5F1B
+52 more
Deletion
Trichorhinophalangeal dysplasia type I
GPathogenic
AARD, CCN3
+29 more
Copy number loss
not provided
GPathogenic
AARD, ABRA
+277 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
AARD, ADCK5
+172 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
RRM2B, SLC30A8
+160 more
Copy number gain
See cases
GPathogenic
AARD, CSMD3
+9 more
Copy number loss
See cases
GPathogenic
SLC45A4, SLC7A13
+189 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+228 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
SAMD12
Microsatellite
Epilepsy, familial adult myoclonic, 1
GPathogenic
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