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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PUS3, HYLS1
(E74fs)
Deletion
(frameshift variant +1 more)
Hydrolethalus syndrome 1
GUncertain significance
HYLS1, PUS3
(R19*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GUncertain significance
HYLS1, PUS3
(K153fs)
Deletion
(frameshift variant +1 more)
Hydrolethalus syndrome 1
GUncertain significance
HYLS1, PUS3
Deletion
(inframe_deletion +1 more)
Hydrolethalus syndrome 1
GUncertain significance
PUS3, HYLS1
(V56del)
Deletion
(inframe_deletion +1 more)
Hydrolethalus syndrome 1
GUncertain significance
HYLS1, PUS3
(D49del)
Deletion
(inframe_deletion +1 more)
Hydrolethalus syndrome 1
GUncertain significance
HYLS1, PUS3
Deletion
(inframe_deletion +1 more)
Hydrolethalus syndrome 1
GUncertain significance
HYLS1, PUS3
Duplication
(inframe_insertion +1 more)
Hydrolethalus syndrome 1
GUncertain significance
PUS3, HYLS1
Deletion
(inframe_deletion +1 more)
Hydrolethalus syndrome 1
GUncertain significance
PUS3, HYLS1
(S299del)
Microsatellite
(inframe_deletion +1 more)
Hydrolethalus syndrome 1
GUncertain significance
HYLS1, PUS3
(R100C)
Single nucleotide variant
(missense variant +1 more)
Hydrolethalus syndrome 1
GUncertain significance
HYLS1, PUS3
(C31R)
Single nucleotide variant
(missense variant +1 more)
Hydrolethalus syndrome 1
+2 more
GBenign
HYLS1, PUS3
(D211G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
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