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Items: 1 to 100 of 574

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130000015, LOC130000016
+3658 more
Copy number gain
See cases
GPathogenic
DEFA1B, DEFA3
+3658 more
Copy number gain
See cases
GPathogenic
LOC110121192, LOC110121196
+3656 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3652 more
Copy number gain
See cases
GPathogenic
LOC130000067, LOC130000068
+3656 more
Copy number gain
See cases
GPathogenic
GPAT4, GPAT4-AS1
+3106 more
Copy number gain
See cases
GPathogenic
PARP10, PCAT1
+1690 more
Copy number gain
See cases
GPathogenic
LOC130000867, LOC130000868
+1686 more
Copy number gain
See cases
GPathogenic
LOC130001282, LOC130001283
+1552 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1531 more
Copy number gain
See cases
GPathogenic
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1329 more
Copy number gain
See cases
GPathogenic
LOC130001243, LOC130001244
+1204 more
Copy number gain
See cases
GPathogenic
LOC130001328, LOC130001329
+1067 more
Copy number gain
See cases
GPathogenic
LOC114827840, LOC121331310
+961 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC129390060, LOC129929031
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
LOC126860527, LOC126860528
+499 more
Copy number gain
See cases
GPathogenic
LOC130001259, LOC130001260
+373 more
Copy number gain
See cases
GLikely pathogenic
MIR10400, MIR1234
+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
GPAA1, LOC130001364
(M1L)
Single nucleotide variant
(missense variant +1 more)
Glycosylphosphatidylinositol biosynthesis defect 15
GUncertain significance
GPAA1, LOC130001364
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1, LOC130001364
(L3V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1, LOC130001364
(D6G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPAA1, LOC130001364
(P7S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1, LOC130001364
(P7L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1, LOC130001364
(R9H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1, LOC130001364
(R10Q)
Single nucleotide variant
(missense variant)
Glycosylphosphatidylinositol biosynthesis defect 15
+1 more
GUncertain significance
GPAA1, LOC130001364
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1, LOC130001364
(A12V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1, LOC130001364
(R15fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GPAA1, LOC130001364
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1, LOC130001364
(V17L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GPAA1, LOC130001364
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1, LOC130001364
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1, LOC130001364
(L18V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1, LOC130001364
(L20F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1, LOC130001364
(N21S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1, LOC130001364
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1, LOC130001364
Microsatellite
(splice donor variant)
not provided
GUncertain significance
GPAA1, LOC130001364
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
GPAA1, LOC130001364
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPAA1, LOC130001364
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPAA1, LOC130001364
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPAA1, LOC130001364
Single nucleotide variant
(intron variant)
not provided
GBenign
GPAA1, LOC130001364
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPAA1
Microsatellite
(intron variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPAA1
(L39P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(P42L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
(Q46R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(R47G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(R47H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
(M50K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GPAA1
(S51L)
Single nucleotide variant
(missense variant)
Glycosylphosphatidylinositol biosynthesis defect 15
GLikely pathogenic
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
(A54N)
Indel
(missense variant)
Glycosylphosphatidylinositol biosynthesis defect 15
GUncertain significance
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
(E61K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(E61D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(E62*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GPAA1
(D68Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(R69C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(R69L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(A74S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(A74V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
(A79V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPAA1
(H80Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
(R81L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(K82R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(K83R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
GPAA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPAA1
(A90V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(E93A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPAA1
(T95A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(T95M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
(R97W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
(S98L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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