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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNB2
(R158W)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 9
+1 more
GUncertain significance
PRMT7, SLC7A6OS
(Q64R)
Single nucleotide variant
(missense variant)
Generalized myoclonic seizure
+1 more
GConflicting classifications of pathogenicity
Translocation
Tall stature
+6 more
GPathogenic
Translocation
Delayed speech and language development
+15 more
GUncertain significance
Translocation
Limb joint contracture
+20 more
GPathogenic
ADSL
(R141W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic/Likely pathogenic
ADSL
(Y114H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+7 more
GPathogenic
ST3GAL3
(R190Q +9 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+4 more
GUncertain significance
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