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Items: 24

  • The following term was not found in ClinVar: paraguense.
  • Showing results for Bryum paraguense. Your search for Bryum paraguense retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
(A33V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(R136H +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
ALPL
(E191K +2 more)
Single nucleotide variant
(missense variant)
Odontohypophosphatasia
+8 more
GPathogenic/Likely pathogenic
ALPL
(R223W +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(K264R +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ALPL
(R272C +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+2 more
GPathogenic
ALPL
(R272H +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(P215T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(D294A +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+6 more
GPathogenic
ALPL
(M240T +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+3 more
GConflicting classifications of pathogenicity
ALPL
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ALPL
(R391C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic
ALPL
(T411A +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+1 more
GPathogenic
ALPL
(G455S +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+4 more
GPathogenic/Likely pathogenic
ALPL
(A492fs +2 more)
Deletion
(frameshift variant)
ALPL-related disorder
+3 more
GPathogenic/Likely pathogenic
DDC
(S250F +4 more)
Single nucleotide variant
(missense variant)
Deficiency of aromatic-L-amino-acid decarboxylase
GPathogenic
DDC
Single nucleotide variant
(intron variant)
Deficiency of aromatic-L-amino-acid decarboxylase
+1 more
GPathogenic
DDC, DDC-AS1
(G123R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
DDC, DDC-AS1
(G102S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Deficiency of aromatic-L-amino-acid decarboxylase
GPathogenic
FLNC
(G1232R)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GUncertain significance
FLNC, FLNC-AS1
(E2156*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia, familial, 15
GPathogenic
FLNC, FLNC-AS1
(D2670fs +1 more)
Deletion
(frameshift variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PKP2
(N480fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 9
+4 more
GConflicting classifications of pathogenicity
DSG2
(W437*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
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