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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCF11
(F1075fs +1 more)
Deletion
(frameshift variant)
Mediastinal germ cell tumor
+1 more
GUncertain significance
ACP3
(I251del +1 more)
Microsatellite
(inframe_deletion)
Mediastinal germ cell tumor
+1 more
GUncertain significance
SLC9A2
(Q725fs)
Deletion
(frameshift variant)
Mediastinal germ cell tumor
+1 more
GUncertain significance
MT-ND6
Single nucleotide variant
Mediastinal germ cell tumor
+1 more
GUncertain significance
RASAL3
Single nucleotide variant
(5 prime UTR variant)
Mediastinal germ cell tumor
+1 more
GUncertain significance
TP53
(R213fs +3 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome 1
GPathogenic
CORO7, CORO7-PAM16
Single nucleotide variant
(intron variant)
Mediastinal germ cell tumor
+1 more
GUncertain significance
MDGA1
(F892V)
Single nucleotide variant
(missense variant)
Mediastinal germ cell tumor
+1 more
GUncertain significance
PTEN
(C136R +1 more)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome
+5 more
GPathogenic/Likely pathogenic
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