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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NRL, PCK2
(P36L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPH
(K202R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ASPH
(D149H +1 more)
Single nucleotide variant
(missense variant +1 more)
Malignant hyperthermia of anesthesia
GPathogenic
ASPH
(K103T +1 more)
Single nucleotide variant
(missense variant +1 more)
Exercise-induced malignant hyperthermia
GPathogenic
ASPH
(V54A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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