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Items: 9

  • The following term was not found in ClinVar: bipinnatifida.
  • Showing results for Gaertneria bipinnatifida. Your search for Gaertneria bipinnatifida retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM43
(F353L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
FKTN
(N310S +2 more)
Single nucleotide variant
(missense variant +3 more)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
VCL
(P942S)
Indel
(missense variant +1 more)
not specified
+3 more
GUncertain significance
RBM20
(P638L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic
PKP2
(Q682* +1 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 9
+1 more
GPathogenic
MYH6
(Q1534H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DSG2
(R46Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
DSG2
(K294E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GUncertain significance
DSG2
(V392I)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
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