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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+174 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+178 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+166 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+178 more
Copy number loss
See cases
GPathogenic
FAM25A, GHITM
+168 more
Copy number loss
See cases
GPathogenic
SHLD2, SNCG
+168 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+163 more
Copy number loss
See cases
GPathogenic
LOC130004227, LOC130004228
+168 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+175 more
Copy number loss
See cases
GPathogenic
ATAD1, ACTA2
+151 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+61 more
Deletion
Generalized juvenile polyposis/juvenile polyposis coli
GPathogenic
ADIRF, ADIRF-AS1
+60 more
Deletion
Generalized juvenile polyposis/juvenile polyposis coli
GPathogenic
ADIRF, ADIRF-AS1
+57 more
Deletion
PTEN hamartoma tumor syndrome
GPathogenic
ADIRF, ADIRF-AS1
+2 more
(K76Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
AGAP11
Single nucleotide variant
(non-coding transcript variant)
not specified
GLikely benign
AGAP11
Single nucleotide variant
(non-coding transcript variant)
not specified
GUncertain significance
ADIRF, ADIRF-AS1
+13 more
Deletion
PTEN hamartoma tumor syndrome
GPathogenic
ACTA2, ADIRF
+46 more
Copy number loss
not specified
GPathogenic
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
ADIRF, ADIRF-AS1
+33 more
Copy number gain
See cases
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ADIRF, ADIRF-AS1
+14 more
Deletion
PTEN hamartoma tumor syndrome
GPathogenic
ADIRF, ADIRF-AS1
+7 more
Copy number gain
not provided
GUncertain significance
ACTA2, ADIRF
+56 more
Copy number loss
not provided
GPathogenic
ACTA2, ADIRF
+50 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+32 more
Copy number loss
Chromosome 10q23 deletion syndrome
GPathogenic
ADIRF, ADIRF-AS1
+7 more
Copy number gain
not provided
GUncertain significance
ADIRF, ADIRF-AS1
+19 more
Copy number loss
not provided
GPathogenic
PAPSS2, MMRN2
+13 more
Deletion
Juvenile polyposis syndrome
GPathogenic
BMPR1A, CCSER2
+33 more
Deletion
not provided
GPathogenic
ACTA2, ADIRF
+34 more
Copy number loss
not provided
GPathogenic
DYDC1, DYDC2
+34 more
Copy number loss
not provided
GPathogenic
ADIRF, ADIRF-AS1
+33 more
Copy number loss
not provided
GPathogenic
ADIRF, ADIRF-AS1
+13 more
Deletion
Generalized juvenile polyposis/juvenile polyposis coli
+1 more
GPathogenic
ADIRF, ADIRF-AS1
+32 more
Copy number loss
not provided
GPathogenic
ADIRF, ADIRF-AS1
+29 more
Copy number loss
not provided
GPathogenic
ADIRF, ADIRF-AS1
+13 more
Deletion
Generalized juvenile polyposis/juvenile polyposis coli
+1 more
GPathogenic
ACTA2, ADAMTS14
+168 more
Copy number gain
not provided
GPathogenic
ACTA2, ADIRF
+55 more
Copy number loss
not provided
GPathogenic
LINC01520, LOC101929662
+32 more
Copy number gain
not provided
GLikely pathogenic
ADIRF, ADIRF-AS1
+7 more
Copy number loss
not provided
GLikely pathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ADIRF, ADIRF-AS1
+29 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+32 more
Copy number loss
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+32 more
Copy number loss
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
CYP17A1, KLLN
+206 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
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