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Links from Gene

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS9
(R162C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RPS9
(I84V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CNOT3, LENG1
+9 more
Duplication
not provided
GUncertain significance
RPS9
(R109H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RPS9
(T49I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RPS9
Single nucleotide variant
(synonymous variant +2 more)
RPS9-related disorder
GBenign
RPS9
Single nucleotide variant
(synonymous variant +2 more)
RPS9-related disorder
GBenign
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
CNOT3, LAIR1
+18 more
Copy number gain
not provided
GUncertain significance
RPS9
(I116V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RPS9
(D117N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CACNG6, CACNG7
+51 more
Duplication
not provided
GUncertain significance
TMC4, TMEM150B
+87 more
Copy number gain
not provided
GUncertain significance
CNOT3, LAIR1
+12 more
Copy number gain
not provided
GUncertain significance
PPP1R15A, PPP2R1A
+308 more
Copy number gain
not provided
GPathogenic
CDC42EP5, FCAR
+28 more
Copy number gain
not provided
GUncertain significance
CACNG6, CACNG8
+29 more
Copy number gain
not provided
GUncertain significance
ZNF548, ZNF549
+157 more
Copy number gain
not provided
GPathogenic
BRSK1, CACNG6
+68 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
LILRB3, CDC42EP5
+32 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
CNOT3, LENG1
+4 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
A1BG, A1BG-AS1
+547 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 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
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
LOC130065082, LOC130065083
+806 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130065034, LOC130065035
+761 more
Copy number gain
See cases
GPathogenic
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