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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC113687199, LOC121201615
+58 more
Copy number gain
See cases
GUncertain significance
LOC111674474, LOC111674475
+2212 more
Copy number gain
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
LOC129999653, LOC129999654
+1380 more
Copy number gain
See cases
GPathogenic
C7orf33, CALD1
+1176 more
Copy number gain
See cases
GPathogenic
LOC129999666, LOC129999667
+1052 more
Copy number gain
See cases
GPathogenic
TMEM140, TMEM176A
+1046 more
Copy number gain
See cases
GPathogenic
LOC129999503, LOC129999504
+1025 more
Copy number gain
See cases
GPathogenic
LINC00996, LINC01003
+1025 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1019 more
Copy number gain
See cases
GPathogenic
WDR86, WDR86-AS1
+944 more
Copy number loss
See cases
GPathogenic
TRBC2, TRBD1
+455 more
Copy number loss
See cases
GPathogenic
ADCK2, AGK
+373 more
Copy number loss
See cases
GPathogenic
LOC129999526, LOC129999527
+908 more
Copy number gain
See cases
GPathogenic
AGAP3, AGK
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
DYNC2I1, EN2
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
TRBC1, TRBC2
+230 more
Copy number gain
See cases
GUncertain significance
LOC129999649, LOC129999650
+737 more
Copy number loss
See cases
GPathogenic
AGK, AGK-DT
+192 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+707 more
Copy number loss
See cases
GPathogenic
LOC113687199, LOC121201615
+54 more
Copy number gain
See cases
GLikely benign
LOC121201615, LOC123956253
+26 more
Copy number loss
See cases
GLikely benign
LOC121201615, LOC123956253
+26 more
Copy number loss
See cases
GLikely benign
LOC121201615, LOC123956253
+17 more
Copy number gain
See cases
GLikely benign
LOC121201615, LOC123956253
+17 more
Copy number loss
See cases
GLikely benign
ARHGEF35, ARHGEF35-AS1
+110 more
Copy number loss
See cases
GPathogenic
LOC121201615, LOC123956253
+9 more
Copy number loss
See cases
GBenign
LOC121201615, LOC123956253
+11 more
Copy number loss
See cases
GLikely benign
LOC121201615, LOC123956253
+11 more
Copy number loss
See cases
GLikely benign
PRSS1, TRB
+3 more
Copy number loss
See cases
GBenign
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