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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAPG2
(R874T)
Single nucleotide variant
(missense variant +1 more)
Khan-Khan-Katsanis syndrome
GUncertain significance
NCAPG2
(Q939E)
Single nucleotide variant
(missense variant +1 more)
Khan-Khan-Katsanis syndrome
GUncertain significance
NCAPG2
(R827H)
Single nucleotide variant
(missense variant +1 more)
Khan-Khan-Katsanis syndrome
GUncertain significance
NCAPG2
(G245R)
Single nucleotide variant
(missense variant +1 more)
Khan-Khan-Katsanis syndrome
GUncertain significance
NCAPG2
(L42*)
Single nucleotide variant
(nonsense +1 more)
Khan-Khan-Katsanis syndrome
GLikely pathogenic
NCAPG2
(G720R)
Single nucleotide variant
(missense variant +1 more)
Khan-Khan-Katsanis syndrome
GUncertain significance
NCAPG2
Single nucleotide variant
(splice acceptor variant)
Khan-Khan-Katsanis syndrome
GUncertain significance
NCAPG2
Deletion
(nonsense +1 more)
Khan-Khan-Katsanis syndrome
GUncertain significance
LOC126860260, NCAPG2
(I567V)
Single nucleotide variant
(missense variant +1 more)
Khan-Khan-Katsanis syndrome
GUncertain significance
LOC126860260, NCAPG2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NCAPG2
Single nucleotide variant
(intron variant)
Khan-Khan-Katsanis syndrome
+1 more
GBenign
NCAPG2, LOC126860260
(I503V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NCAPG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
NCAPG2
(T850P)
Single nucleotide variant
(missense variant +1 more)
Khan-Khan-Katsanis syndrome
GPathogenic
NCAPG2
(T693M)
Single nucleotide variant
(missense variant +1 more)
Khan-Khan-Katsanis syndrome
GPathogenic
NCAPG2
(K609E)
Single nucleotide variant
(missense variant +1 more)
Khan-Khan-Katsanis syndrome
GPathogenic
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