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Links from Gene

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPX6
(F132S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX6
(V195I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX6
(T159S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX6
(Q6L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX6
(V16A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX6
(Q78R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX6
(D191N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX6
(A71V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX6
(A45D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX6
(T47A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCF1, ABHD16A
+106 more
Deletion
Megacolon
GLikely pathogenic
GPX6
(Y53H)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPX6
(D161G)
Single nucleotide variant
(missense variant)
not provided
GBenign
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
ABT1, BTN1A1
+344 more
Copy number gain
See cases
GUncertain significance
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