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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPS1
(P99T +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
+1 more
GUncertain significance
CPS1
(G163* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pulmonary hypertension, neonatal, susceptibility to
+2 more
GPathogenic/Likely pathogenic
CPS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
CPS1
(G213S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CPS1
(L341V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CPS1
(T344A +1 more)
Indel
(missense variant +1 more)
Pulmonary hypertension, neonatal, susceptibility to
+3 more
GBenign/Likely benign
CPS1
(T344S +1 more)
Indel
(missense variant +1 more)
not specified
GBenign
CPS1
(T344S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
CPS1
(T344A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
CPS1
(R882C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CPS1
(I1215V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CPS1
(P1418S +1 more)
Single nucleotide variant
(missense variant +1 more)
CPS1-related condition
+3 more
GConflicting classifications of pathogenicity
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