U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG10, ATP6AP1L
+691 more
Copy number gain
See cases
GPathogenic
ADGRV1, ARB2A
+436 more
Copy number loss
See cases
GPathogenic
ADGRV1, ARB2A
+275 more
Copy number loss
See cases
GPathogenic
LOC129994523, LOC129994524
+683 more
Copy number loss
See cases
GPathogenic
LOC126807500, LOC126807501
+689 more
Copy number loss
See cases
GPathogenic
DMXL1, DMXL1-DT
+496 more
Copy number loss
See cases
GPathogenic
APC, ARB2A
+343 more
Copy number loss
See cases
GPathogenic
TSSK1B, WDR36
+275 more
Copy number gain
See cases
GPathogenic
EPB41L4A-DT, APC
+180 more
Copy number loss
See cases
GPathogenic
GIN1, LINC02115
+15 more
Copy number gain
See cases
GLikely benign
MACIR
(E68D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MACIR
(R105H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRV1, ARB2A
+34 more
Copy number gain
See cases
GUncertain significance
AP3S1, APC
+80 more
Copy number loss
not specified
GPathogenic
CAMK4, CCDC112
+60 more
Copy number loss
not specified
GPathogenic
DCP2, EFNA5
+56 more
Copy number loss
not specified
GPathogenic
CAST, CETN3
+45 more
Copy number gain
See cases
GLikely pathogenic
SLCO4C1, NUDT12
+5 more
Copy number gain
not provided
GUncertain significance
GIN1, MACIR
+2 more
Copy number gain
not provided
GUncertain significance
ADAMTS19, ADGRV1
+104 more
Copy number gain
not provided
GPathogenic
MACIR, PPIP5K2
Copy number gain
not provided
GUncertain significance
MACIR, PPIP5K2
Copy number gain
not provided
GUncertain significance
MACIR, PPIP5K2
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
GIN1, PPIP5K2
+1 more
Copy number gain
not provided
GLikely benign
ARB2A, ARSK
+31 more
Copy number loss
not provided
GPathogenic
CCDC69, CCNH
+385 more
Deletion
Familial adenomatous polyposis 1
+1 more
GPathogenic
CAST, CHD1
+19 more
Copy number loss
See cases
GLikely pathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
FAM174A, GIN1
+7 more
Copy number loss
See cases
GUncertain significance
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination