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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK10
(N168fs +1 more)
Deletion
(frameshift variant +1 more)
Al Kaissi syndrome
GPathogenic
CDK10
(L154P +1 more)
Single nucleotide variant
(missense variant +1 more)
Al Kaissi syndrome
GPathogenic
CDK10
(L151P +1 more)
Single nucleotide variant
(missense variant +1 more)
Al Kaissi syndrome
GPathogenic
CDK10
(K5* +1 more)
Single nucleotide variant
(nonsense +1 more)
Al Kaissi syndrome
GPathogenic
CDK10
Single nucleotide variant
(splice acceptor variant)
Al Kaissi syndrome
GPathogenic
CDK10
Deletion
Al Kaissi syndrome
GPathogenic
CDK10, LINC02166
Single nucleotide variant
(non-coding transcript variant +1 more)
Al Kaissi syndrome
GPathogenic
CDK10, LINC02166
(E9Q)
Single nucleotide variant
(non-coding transcript variant +2 more)
Al Kaissi syndrome
GUncertain significance
CDK10
Single nucleotide variant
(synonymous variant +1 more)
Al Kaissi syndrome
GPathogenic
CDK10
(L140del +1 more)
Microsatellite
(inframe_deletion +1 more)
Al Kaissi syndrome
GPathogenic
CDK10
(T142I +1 more)
Single nucleotide variant
(missense variant +1 more)
Al Kaissi syndrome
GUncertain significance
CDK10
(G225R +1 more)
Single nucleotide variant
(missense variant +1 more)
Al Kaissi syndrome
GUncertain significance
CDK10
(L168fs +1 more)
Deletion
(frameshift variant +1 more)
Al Kaissi syndrome
GPathogenic
CDK10
(L101fs +1 more)
Duplication
(frameshift variant +1 more)
Al Kaissi syndrome
GLikely pathogenic
CDK10
Single nucleotide variant
(intron variant)
Al Kaissi syndrome
GBenign
CDK10
Single nucleotide variant
(intron variant)
Al Kaissi syndrome
GBenign
CDK10
(W220fs +1 more)
Deletion
(frameshift variant +1 more)
Al Kaissi syndrome
+2 more
GPathogenic/Likely pathogenic
CDK10
(V28L +1 more)
Single nucleotide variant
(missense variant +1 more)
Al Kaissi syndrome
GUncertain significance
CDK10
(I228M +1 more)
Single nucleotide variant
(missense variant +1 more)
Al Kaissi syndrome
GUncertain significance
CDK10
(R57W)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
CDK10
(S278R +2 more)
Single nucleotide variant
(missense variant +2 more)
Al Kaissi syndrome
GUncertain significance
CDK10
(T88R +1 more)
Single nucleotide variant
(missense variant +1 more)
Al Kaissi syndrome
GUncertain significance
CDK10
(D150N +1 more)
Single nucleotide variant
(missense variant +1 more)
Al Kaissi syndrome
GUncertain significance
CDK10
(C105S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CDK10, LINC02166
Single nucleotide variant
(non-coding transcript variant +2 more)
Al Kaissi syndrome
+1 more
GConflicting classifications of pathogenicity
LINC02166, CDK10
(C8*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Al Kaissi syndrome
+1 more
GPathogenic/Likely pathogenic
CDK10
(E173fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
CDK10
(M151fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CDK10
(L113fs +1 more)
Deletion
(frameshift variant +1 more)
Al Kaissi syndrome
GLikely pathogenic
CDK10
Single nucleotide variant
(splice donor variant)
Al Kaissi syndrome
+1 more
GPathogenic
CDK10
(E47fs)
Deletion
(5 prime UTR variant +1 more)
Al Kaissi syndrome
GPathogenic
CDK10
Deletion
(splice acceptor variant +2 more)
Al Kaissi syndrome
GPathogenic
CDK10
Single nucleotide variant
(splice acceptor variant)
Al Kaissi syndrome
+1 more
GPathogenic/Likely pathogenic
CDK10
(R286H +2 more)
Single nucleotide variant
(missense variant +2 more)
Al Kaissi syndrome
+2 more
GConflicting classifications of pathogenicity
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