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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPAT5, ANGPT2
+380 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
LOC129999827, LOC129999828
+393 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC101929290, LOC102723313
+448 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
LOC123987611, LOC123987612
+393 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 more
Copy number gain
See cases
GPathogenic
LOC129999940, LOC129999941
+687 more
Copy number gain
See cases
GPathogenic
LOC101929290, LOC102723313
+471 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
LOC129999950, LOC129999951
+996 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+736 more
Copy number gain
See cases
GPathogenic
LOC126860300, LOC126860301
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADAM28, ADAM7
+773 more
Copy number loss
See cases
GPathogenic
XKR5, XKR6
+773 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+259 more
Copy number loss
See cases
GPathogenic
DEFB103B, DEFB104A
+256 more
Copy number gain
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
LOC129999906, LOC129999907
+258 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+260 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+255 more
Copy number loss
See cases
GPathogenic
LOC129999824, LOC129999825
+255 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+232 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+241 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+217 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+205 more
Copy number loss
See cases
GPathogenic
LOC129999867, LOC129999868
+198 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+199 more
Copy number gain
See cases
GLikely pathogenic
FAM85B, FAM86B1
+205 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+208 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+196 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+196 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+195 more
Copy number loss
See cases
GPathogenic
C8orf74, CLDN23
+124 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+193 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+207 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+189 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+206 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+201 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+189 more
Copy number loss
See cases
GPathogenic
PPP1R3B, PPP1R3B-DT
+205 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+188 more
Copy number gain
See cases
GPathogenic
LOC129999836, LOC129999837
+187 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+187 more
Copy number gain
See cases
GPathogenic
MTMR9, NEIL2
+160 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+86 more
Copy number loss
See cases
GPathogenic
LOC129999854, LOC129999855
+122 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+72 more
Copy number gain
See cases
GUncertain significance
BLK, C8orf74
+116 more
Copy number gain
See cases
GUncertain significance
LOC129999890, LOC129999891
+88 more
Copy number gain
See cases
GUncertain significance
FAM167A, FAM167A-AS1
(S212Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM167A, FAM167A-AS1
(N207D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM167A, FAM167A-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM167A, FAM167A-AS1
(T194A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM167A, FAM167A-AS1
(C182Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM167A, FAM167A-AS1
(C182F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM167A, FAM167A-AS1
(E176D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM167A, FAM167A-AS1
(R162M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM167A, FAM167A-AS1
(D147N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM167A, FAM167A-AS1
(R143H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM167A, FAM167A-AS1
(R143C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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