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Links from Gene

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
SCD
(I90V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPN1, CRTAC1
+95 more
Duplication
not provided
GUncertain significance
SCD
(Q243H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCD
(T37R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCD
(V105I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCD
(V293M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT8B, NDUFB8
+9 more
Copy number gain
not provided
GUncertain significance
SCD
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC130004529, SCD
Single nucleotide variant
(intron variant)
not provided
GBenign
SCD
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SCD
(P48R)
Single nucleotide variant
(missense variant)
not provided
GBenign
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
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
ABCC2, BLOC1S2
+72 more
Copy number gain
See cases
GUncertain significance
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
LOC126861015, LOC129390222
+63 more
Copy number gain
See cases
GUncertain significance
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
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