U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
LOC130062818, LOC130062819
+332 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+321 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+301 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
LOC130062906, LOC130062907
+222 more
Copy number loss
See cases
GPathogenic
ABHD17A, ADAMTSL5
+219 more
Copy number gain
See cases
GUncertain significance
ABHD17A, ADAT3
+387 more
Copy number loss
See cases
GPathogenic
ABHD17A, ADAT3
+362 more
Copy number gain
See cases
GPathogenic
MBD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBD3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC130062969, MBD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MBD3L3, MBD3L4
+202 more
Copy number gain
not provided
GPathogenic
ABHD17A, ADAMTSL5
+80 more
Duplication
not provided
GUncertain significance
C19orf25, CSNK1G2
+35 more
Duplication
Progressive myoclonic epilepsy type 9
+1 more
GUncertain significance
TLE5, TLE6
+151 more
Duplication
not provided
GUncertain significance
ABCA7, ABHD17A
+61 more
Duplication
Neutropenia, severe congenital, 1, autosomal dominant
+1 more
GUncertain significance
ABCA7, ABHD17A
+138 more
Duplication
not provided
GUncertain significance
ADAMTSL5, APC2
+20 more
Deletion
Cerebral creatine deficiency syndrome
GPathogenic
ADAMTSL5, APC2
+13 more
Copy number loss
not provided
GUncertain significance
ABCA7, ABHD17A
+77 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+138 more
Copy number gain
See cases
GPathogenic
MKNK2, MOB3A
+43 more
Copy number gain
not provided
GLikely pathogenic
ADAMTSL5, PLEKHJ1
+106 more
Copy number gain
not provided
GPathogenic
ABCA7, ABHD17A
+147 more
Copy number gain
not provided
GPathogenic
ADAMTSL5, APC2
+17 more
Copy number gain
not provided
GUncertain significance
AP3D1, SPPL2B
+64 more
Duplication
Neurodevelopmental disorder
GUncertain significance
ABCA7, ABHD17A
+102 more
Copy number gain
not provided
GPathogenic
NDUFS7, OAZ1
+100 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+67 more
Copy number gain
See cases
GLikely pathogenic
ABCA7, ABHD17A
+87 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination