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Items: 14

  • The following term was not found in ClinVar: ptyssiglottis.
  • Showing results for Ptyssiglottis flava. Your search for Ptyssiglottis flava retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP27A1
(G145E)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(L315fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
PIK3CA
(Q546R)
Single nucleotide variant
(missense variant)
Ovarian neoplasm
+3 more
GPathogenic
OOncogenic
LRRK2
(P755L)
Single nucleotide variant
(missense variant)
Autosomal dominant Parkinson disease 8
+1 more
GBenign/Likely benign
SLC12A3
(H69N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC12A3
(R145H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SLC12A3
(G439S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
SLC12A3
(P643L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC12A3
(G867S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC12A3
(R964Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GSS
(D219G)
Single nucleotide variant
(missense variant)
Inherited glutathione synthetase deficiency
+1 more
GPathogenic
G6PD
(L323P +1 more)
Single nucleotide variant
(missense variant)
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
+3 more
GPathogenic/Likely pathogenic
G6PD
(V68M +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GPathogenic/Likely pathogenic
G6PD
(I48T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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