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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130065082, LOC130065083
+806 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
LOC130065034, LOC130065035
+761 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+547 more
Copy number gain
See cases
GPathogenic
SSC5D, SYT5
+553 more
Copy number gain
See cases
GPathogenic
TMC4, TMEM150B
+537 more
Copy number gain
See cases
GPathogenic
BRSK1, C19orf85
+196 more
Copy number gain
See cases
GUncertain significance
BRSK1, C19orf85
+194 more
Copy number gain
See cases
GLikely pathogenic
NAT14, NLRP11
+124 more
Copy number gain
See cases
GUncertain significance
COX6B2
(W75R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX6B2
(H40Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX6B2
(Q28K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX6B2
(N27K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
BRSK1, COX6B2
+16 more
Copy number gain
not provided
GUncertain significance
CCDC106, COX6B2
+45 more
Copy number loss
not provided
GUncertain significance
BRSK1, CCDC106
+54 more
Copy number loss
not provided
GLikely pathogenic
TMC4, TMEM150B
+87 more
Copy number gain
not provided
GUncertain significance
PPP1R15A, PPP2R1A
+308 more
Copy number gain
not provided
GPathogenic
ZNF548, ZNF549
+157 more
Copy number gain
not provided
GPathogenic
KMT5C, NLRP8
+39 more
Copy number loss
not provided
GUncertain significance
CCDC106, COX6B2
+47 more
Copy number gain
See cases
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
BRSK1, CCDC106
+61 more
Copy number gain
See cases
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
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