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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HYLS1, PUS3
(N146fs)
Deletion
(frameshift variant +2 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GPathogenic
HYLS1, PUS3
(R159H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
+1 more
GUncertain significance
HYLS1, PUS3
(R166Q +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GUncertain significance
HYLS1, PUS3
(Y71C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
HYLS1, PUS3
(T6fs)
Microsatellite
(intron variant +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GLikely pathogenic
HYLS1, PUS3
(Y3D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
HYLS1, PUS3
(A46S)
Single nucleotide variant
(missense variant +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
+1 more
GBenign
HYLS1, PUS3
(E252D +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
+1 more
GBenign
HYLS1, PUS3
(A123fs)
Deletion
(frameshift variant +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GPathogenic/Likely pathogenic
PUS3, HYLS1
(M153K +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GUncertain significance
HYLS1, PUS3
(Q350* +1 more)
Single nucleotide variant
(nonsense +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GLikely pathogenic
HYLS1, PUS3
(M1V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HYLS1, PUS3
(R166Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
+1 more
GUncertain significance
HYLS1, PUS3
(R193Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
HYLS1, PUS3
(S394fs +1 more)
Microsatellite
(frameshift variant +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GLikely pathogenic
PUS3, HYLS1
(R435* +1 more)
Single nucleotide variant
(nonsense +1 more)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
GPathogenic
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