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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPRTN
(P296L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Progeroid features-hepatocellular carcinoma predisposition syndrome
+1 more
GBenign
SPRTN
Single nucleotide variant
(intron variant)
Progeroid features-hepatocellular carcinoma predisposition syndrome
GBenign
SPRTN
(K241fs)
Deletion
(3 prime UTR variant +1 more)
Progeroid features-hepatocellular carcinoma predisposition syndrome
GPathogenic
SPRTN
(Y117C)
Single nucleotide variant
(missense variant +1 more)
Progeroid features-hepatocellular carcinoma predisposition syndrome
GPathogenic
SPRTN
(G197fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
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