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Links from Gene

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CENPQ
(E195D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(I95V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(L242W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(D241E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(K22I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(T168S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(A12T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(K115E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(H45R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C6orf141, CENPQ
+3 more
Duplication
not provided
GUncertain significance
CENPQ
(K64N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(N181D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(H201R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPQ
(A230T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CENPQ
(S206N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8, PGK2
+92 more
Copy number gain
not provided
GLikely pathogenic
ADGRF5, ANKRD66
+50 more
Copy number loss
not specified
GPathogenic
C6orf141, CENPQ
+10 more
Copy number loss
not provided
GUncertain significance
TFAP2D, TINAG
+43 more
Copy number loss
See cases
GLikely pathogenic
PGK2, DEFB113
+11 more
Copy number loss
not provided
GUncertain significance
DEFB113, C6orf141
+10 more
Copy number loss
not provided
GUncertain significance
C6orf141, CENPQ
+7 more
Copy number gain
not provided
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
CENPQ, GLYATL3
+1 more
Copy number gain
See cases
Gconflicting data from submitters
RHAG, CENPQ
+7 more
Copy number gain
See cases
GUncertain significance
ADGRF2, ADGRF4
+64 more
Copy number loss
See cases
GLikely pathogenic
GSTA3, GSTA4
+228 more
Copy number loss
See cases
GPathogenic
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