U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 20

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
COX7C, LOC113002595
+7 more
Copy number gain
See cases
GLikely benign
CCNH, COX7C
+60 more
Copy number loss
See cases
GPathogenic
ADGRV1, ARRDC3
+119 more
Copy number loss
5q14.3 microdeletion
GPathogenic
LOC129994182, LOC132089304
+52 more
Copy number loss
See cases
GPathogenic
COX7C
(C42Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX7C
(V55I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COX7C, EDIL3
Copy number loss
not provided
GUncertain significance
COX7C
Copy number gain
not provided
GUncertain significance
ADGRV1, CCNH
+15 more
Copy number loss
not specified
GPathogenic
ACOT12, ADGRV1
+98 more
Copy number gain
not provided
GPathogenic
CCNH, COX7C
+5 more
Copy number loss
not provided
GPathogenic
COX7C
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
COX7C
Copy number gain
See cases
GLikely benign
CCNH, COX7C
+2 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
Format
Items per page
Sort by
Choose Destination