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Links from Gene

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GK5
(A39E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP1B3, ATR
+7 more
Deletion
not provided
GUncertain significance
GK5
(K227E)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GK5
(V173A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GK5
(V74I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GK5
(C505R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GK5
Single nucleotide variant
(intron variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
GK5
(R521C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GK5
(V60E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GK5
(S334T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GK5
(P8S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GK5
(I303V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GK5
(T198S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GK5
(Q326E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
PLOD2, PLS1
+115 more
Copy number gain
Global developmental delay
GPathogenic
PRR23C, CLSTN2
+18 more
Copy number loss
not provided
GPathogenic
AADAC, AADACL2
+115 more
Copy number gain
See cases
GPathogenic
A4GNT, ARMC8
+54 more
Copy number gain
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
GK5, TFDP2
+1 more
Copy number gain
See cases
GBenign/Likely benign
GK5, TFDP2
Copy number gain
See cases
GBenign
A4GNT, AMOTL2
+301 more
Copy number loss
See cases
GPathogenic
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
A4GNT, ARMC8
+155 more
Copy number loss
See cases
GPathogenic
LOC129937630, LOC129937631
+320 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+345 more
Copy number loss
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
A4GNT, ARMC8
+171 more
Copy number loss
See cases
GPathogenic
GK5, LOC112903842
+6 more
Copy number gain
See cases
Gconflicting data from submitters
ATP1B3, ATR
+107 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+221 more
Copy number loss
See cases
GPathogenic
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