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Items: 1 to 100 of 1008

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001484, LOC130001485
+883 more
Copy number gain
See cases
GPathogenic
LOC130001854, LOC130001855
+1367 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 more
Copy number gain
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+586 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+691 more
Copy number gain
See cases
GPathogenic
ACO1, ALDH1B1
+436 more
Copy number gain
See cases
GLikely pathogenic
ACO1, ALDH1B1
+504 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
PTENP1-AS, RECK
+211 more
Copy number loss
See cases
GPathogenic
CCIN, SPATA31F1
+138 more
Duplication
Anauxetic dysplasia
GUncertain significance
PIGO
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasia with intellectual disability syndrome 2
+1 more
GBenign/Likely benign
PIGO
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasia with intellectual disability syndrome 2
+1 more
GBenign
PIGO
Microsatellite
(3 prime UTR variant)
not provided
GLikely benign
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(Q1088E +1 more)
Indel
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(Q1088E +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(Q670* +1 more)
Single nucleotide variant
(nonsense)
Hyperphosphatasia with intellectual disability syndrome 2
+1 more
GUncertain significance
PIGO
(L1085M +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(Q1082* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PIGO
(S661C +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(S661F +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(S1077T +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(R1071fs +1 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
PIGO
(R1071K +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(A650P +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(I649M +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(G1065A +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(V1060L +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(V1060M +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(V640L +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(I639S +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(F1055L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIGO
(A635F +1 more)
Indel
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIGO
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
PIGO
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(K630fs +1 more)
Deletion
(frameshift variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(A1045S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(V623F +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(V1040I +1 more)
Single nucleotide variant
(missense variant)
PIGO-related disorder
+2 more
GConflicting classifications of pathogenicity
PIGO
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PIGO
(L1038R +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(R619K +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(R1035H +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(R1035L +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(R1035C +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
+1 more
GUncertain significance
PIGO
(L1034F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(I1033M +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
(I616T +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
(L1029S +1 more)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Microsatellite
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Microsatellite
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
PIGO
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIGO
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 2
GLikely benign
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