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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPSF7, DAGLA
+30 more
Copy number gain
See cases
GLikely benign
TMEM258
(R48H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM258
(E40K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM258
(V23M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM258
(E4K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
AHNAK, APLNR
+225 more
Copy number gain
not specified
GLikely pathogenic
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
AHNAK, ARL2
+182 more
Duplication
Leukocyte adhesion deficiency 3
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
CD5, CD6
+58 more
Copy number gain
not provided
GUncertain significance
ASRGL1, BEST1
+72 more
Copy number gain
not provided
GLikely pathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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