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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGDS
(V35I +1 more)
Single nucleotide variant
(missense variant +1 more)
Catel-Manzke syndrome
GUncertain significance
TGDS
(K153T +1 more)
Single nucleotide variant
(missense variant +1 more)
Catel-Manzke syndrome
GUncertain significance
TGDS
(N132T +1 more)
Single nucleotide variant
(missense variant +1 more)
Catel-Manzke syndrome
GUncertain significance
TGDS
Single nucleotide variant
(splice acceptor variant)
Catel-Manzke syndrome
GUncertain significance
TGDS
(T70I +1 more)
Single nucleotide variant
(missense variant +1 more)
Catel-Manzke syndrome
GLikely pathogenic
TGDS
Single nucleotide variant
(splice acceptor variant)
Catel-Manzke syndrome
GLikely pathogenic
TGDS
Single nucleotide variant
(splice donor variant)
Catel-Manzke syndrome
GLikely pathogenic
KYNU
(W109S)
Single nucleotide variant
(missense variant)
Catel-Manzke syndrome
GPathogenic
KYNU
(R330Q)
Single nucleotide variant
(missense variant)
Catel-Manzke syndrome
GPathogenic
KYNU
(R428W)
Single nucleotide variant
(missense variant)
Catel-Manzke syndrome
+1 more
GPathogenic/Likely pathogenic
KYNU, LOC126806361
+1 more
Deletion
Catel-Manzke syndrome
GPathogenic
TGDS
(N298D +1 more)
Single nucleotide variant
(missense variant +1 more)
Catel-Manzke syndrome
GPathogenic
TGDS
(K59fs +1 more)
Microsatellite
(frameshift variant +1 more)
not provided
GConflicting classifications of pathogenicity
TGDS
(F98L +1 more)
Single nucleotide variant
(missense variant +1 more)
Catel-Manzke syndrome
GPathogenic
TGDS
(E90G +1 more)
Single nucleotide variant
(missense variant +1 more)
Catel-Manzke syndrome
GPathogenic
TGDS
(Y234H +1 more)
Single nucleotide variant
(missense variant +1 more)
Catel-Manzke syndrome
+1 more
GPathogenic/Likely pathogenic
TGDS
(A100S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
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