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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130058732, LOC130058733
+504 more
Copy number gain
See cases
GPathogenic
LOC130058889, LOC130058890
+207 more
Copy number gain
See cases
GPathogenic
AHSP, ARMC5
+136 more
Copy number gain
See cases
GPathogenic
PYCARD
(S157N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PYCARD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCARD
(A105P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PYCARD
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC130058897, PYCARD
+1 more
(S58N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PYCARD, PYCARD-AS1
(D10N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FUS, ITGAM
+3 more
Copy number loss
not provided
GUncertain significance
STX4, DCTPP1
+52 more
Copy number gain
not provided
GUncertain significance
ABAT, ABCC1
+250 more
Copy number gain
Microcephaly
GPathogenic
TGFB1I1, TRIM72
+38 more
Deletion
Branched-chain keto acid dehydrogenase kinase deficiency
GUncertain significance
FUS, ITGAD
+5 more
Copy number gain
See cases
GUncertain significance
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
AHSP, ALDOA
+99 more
Copy number loss
See cases
GLikely pathogenic
ALG1, BICDL2
+388 more
Complex
Hemimegalencephaly
GPathogenic
AHSP, ARMC5
+15 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+384 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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