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Items: 1 to 100 of 262

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
ALDH1B1, ANKRD18A
+219 more
Copy number gain
See cases
GPathogenic
LOC108254684, LOC126860625
+23 more
Copy number gain
See cases
GUncertain significance
PAX5
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PAX5
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PAX5
Single nucleotide variant
(3 prime UTR variant +2 more)
PAX5-related disorder
GLikely benign
PAX5
(A320V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
Gnot provided
PAX5
(R390H +10 more)
Single nucleotide variant
(missense variant +1 more)
Leukemia, acute lymphoblastic, susceptibility to, 3
GUncertain significance
PAX5
(M282V +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PAX5
(P281L +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GLikely benign
PAX5
(P307L +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PAX5
(Q277P +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PAX5
(P273L +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GLikely benign
PAX5
(R206* +8 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance
PAX5
(A205T +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PAX5
(P269Q +1 more)
Single nucleotide variant
(synonymous variant +2 more)
PAX5-related disorder
GUncertain significance
PAX5
(A267V +1 more)
Single nucleotide variant
(synonymous variant +2 more)
PAX5-related disorder
GUncertain significance
PAX5
(T293I +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
PAX5
(P292L +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PAX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PAX5
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PAX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
PAX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
PAX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PAX5
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
PAX5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PAX5
(G264E +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PAX5
(R286Q)
Single nucleotide variant
(synonymous variant +3 more)
not specified
GLikely benign
PAX5
(P261S +4 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
PAX5
(G281fs)
Deletion
(nonsense +3 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(G281R +5 more)
Single nucleotide variant
(nonsense +3 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(T269I)
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
PAX5
Deletion
(intron variant)
Acute lymphoid leukemia
GUncertain significance
PAX5
(S244N +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PAX5
(G266E)
Single nucleotide variant
(synonymous variant +3 more)
not provided
GBenign/Likely benign
PAX5
(G235R +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
+1 more
GUncertain significance
PAX5
(P265L)
Single nucleotide variant
(synonymous variant +3 more)
not provided
+1 more
GLikely benign
PAX5
(S231N +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PAX5
Single nucleotide variant
(intron variant +1 more)
Leukemia, acute lymphoblastic, susceptibility to, 3
+1 more
GUncertain significance
PAX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PAX5
Single nucleotide variant
(intron variant)
Leukemia, acute lymphoblastic, susceptibility to, 3
GLikely benign
PAX5
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
PAX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PAX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PAX5
Single nucleotide variant
(synonymous variant +2 more)
not specified
GLikely benign
PAX5
(G215* +2 more)
Single nucleotide variant
(nonsense +2 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(A214fs +2 more)
Duplication
(frameshift variant +2 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(A322T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
PAX5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PAX5
(A214fs +2 more)
Deletion
(frameshift variant +2 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(P278R +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PAX5
(P213H +2 more)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder
GPathogenic
PAX5
(P213T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PAX5
(P213S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PAX5
(P212R +2 more)
Single nucleotide variant
(intron variant +2 more)
not provided
GUncertain significance
PAX5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PAX5
Single nucleotide variant
(synonymous variant +2 more)
not specified
GLikely benign
PAX5
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GBenign/Likely benign
PAX5
(A308V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GBenign
PAX5
(A308T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PAX5
(R262H +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PAX5
(R197C +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
PAX5
Microsatellite
(intron variant)
not provided
GBenign
PAX5
Microsatellite
(intron variant)
not provided
GBenign
PAX5
Microsatellite
(intron variant)
not provided
GBenign
PAX5
Microsatellite
(intron variant)
not provided
GLikely benign
PAX5
Microsatellite
(intron variant)
not provided
GBenign
PAX5
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
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