U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG10, ATP6AP1L
+691 more
Copy number gain
See cases
GPathogenic
SCAMP1
(H88R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCAMP1
(I115V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCAMP1
(V176I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGGF1, AP3B1
+11 more
Deletion
Hermansky-Pudlak syndrome 2
GPathogenic
ARSB, BHMT
+8 more
Copy number loss
not provided
GUncertain significance
AP3B1, SCAMP1
Copy number gain
not specified
GUncertain significance
AP3B1, ARSB
+2 more
Deletion
Mucopolysaccharidosis type 6
GPathogenic
ACOT12, ADGRV1
+98 more
Copy number gain
not provided
GPathogenic
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
Format
Items per page
Sort by
Choose Destination