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  • The following term was not found in ClinVar: rosulenta.
  • Showing results for Stelis rosulenta. Your search for Stelis rosulenta retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FUCA1
Deletion
(splice donor variant)
Fucosidosis
GLikely pathogenic
B3GALNT2
(G247E +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+1 more
GConflicting classifications of pathogenicity
SCN1A
(S169P)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
COL4A4
(G285R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GPathogenic
ATG7
(V160A +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive 31
GConflicting classifications of pathogenicity
CCR5, CCR5AS
(S185fs)
Deletion
(frameshift variant)
not provided
GBenign
GFM1
(V137M +1 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GPathogenic
FGG
(D390H)
Single nucleotide variant
(missense variant)
FIBRINOGEN MATSUMOTO 1
Gother
SDHA
(A45T)
Single nucleotide variant
(missense variant)
Leigh syndrome
+6 more
GConflicting classifications of pathogenicity
GM2A
(R169P)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GPathogenic
ENPP1
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 1
GPathogenic
CARD11
(R72Q)
Single nucleotide variant
(missense variant)
BENTA disease
+2 more
GConflicting classifications of pathogenicity
BRAF
(V600E +7 more)
Single nucleotide variant
(missense variant)
Vascular malformation
+5 more
GPathogenic/Likely pathogenic
STier I - Strong
OOncogenic
CLCN1
(T550M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
PSAP
Single nucleotide variant
(splice acceptor variant)
Sphingolipid activator protein 1 deficiency
GPathogenic
CYP2C19, LOC110599570
Single nucleotide variant
(synonymous variant +1 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
Variation
Escitalopram response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Sertraline response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Sertraline response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Sertraline response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Variation
(missense variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Citalopram response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
(synonymous variant +1 more)
Citalopram response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Clopidogrel response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +3 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(I19L +1 more)
Single nucleotide variant
(missense variant +2 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19
(R73C)
Single nucleotide variant
(missense variant +2 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19
(H78Y)
Single nucleotide variant
(missense variant +2 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19
(H99R)
Single nucleotide variant
(missense variant +2 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19
Single nucleotide variant
(intron variant +1 more)
Sertraline response
+3 more
Gdrug response
CYP2C19
(R150H)
Single nucleotide variant
(missense variant +2 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19
(R186P)
Single nucleotide variant
(missense variant +2 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19
(D188N)
Single nucleotide variant
(missense variant +2 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19
(P227L)
Single nucleotide variant
(missense variant +2 more)
Sertraline response
+3 more
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19
(G91R)
Single nucleotide variant
(synonymous variant +2 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19
(L17P)
Single nucleotide variant
(synonymous variant +2 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19
(K28I)
Single nucleotide variant
(synonymous variant +2 more)
Sertraline response
+3 more
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19
(R335Q)
Single nucleotide variant
(synonymous variant +2 more)
Citalopram response
+3 more
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant +1 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19
(F448L)
Single nucleotide variant
(synonymous variant +2 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19
(S51G)
Single nucleotide variant
(synonymous variant +2 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19
(I19L)
Single nucleotide variant
(synonymous variant +2 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant +1 more)
Clopidogrel response
+4 more
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(synonymous variant +3 more)
Sertraline response
+4 more
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant +1 more)
CYP2C19: no function
Gdrug response
CYP2C19
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign; other
CYP2C19
(D256N)
Single nucleotide variant
(missense variant +2 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19
(R329H)
Single nucleotide variant
(missense variant +2 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19
(R410C)
Single nucleotide variant
(missense variant +2 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19
(R442C)
Single nucleotide variant
(missense variant +2 more)
Sertraline response
+3 more
Gdrug response
CYP2C19
Single nucleotide variant
(stop lost +2 more)
Voriconazole response
+3 more
Gdrug response
INS, INS-IGF2
(C96Y)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(C43G)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
GLikely risk allele
RAG2
(G95R)
Single nucleotide variant
(missense variant)
Recombinase activating gene 2 deficiency
GLikely pathogenic
COX14
(M19I)
Single nucleotide variant
(missense variant)
Mitochondrial complex 4 deficiency, nuclear type 10
GPathogenic
FANCM
(S724* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia, complementation group M
GUncertain significance
DYNC1H1
(E603V)
Single nucleotide variant
(missense variant)
Spinal muscular atrophy with lower extremity predominance
GLikely pathogenic
ALDOA, LOC112694756
(E207K +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GPathogenic
PRMT7
(R289fs +3 more)
Microsatellite
(frameshift variant +1 more)
Short stature-brachydactyly-obesity-global developmental delay syndrome
GLikely pathogenic
GAA
Deletion
(splice donor variant)
Glycogen storage disease, type II
+1 more
GPathogenic/Likely pathogenic
GAA
Microsatellite
(splice donor variant)
Glycogen storage disease, type II
GUncertain significance
ERCC2
(R722W)
Single nucleotide variant
(missense variant)
Trichothiodystrophy 1, photosensitive
+6 more
GPathogenic
COL6A1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
ADSL
(R426H +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GPathogenic
MECP2
(E406* +3 more)
Single nucleotide variant
(nonsense)
Rett syndrome
GPathogenic
MT-ND2
Deletion
Mitochondrial disease
GUncertain significance
Sertraline response
+4 more
Gdrug response
Sertraline response
+4 more
Gdrug response
Sertraline response
+4 more
Gdrug response
Sertraline response
+4 more
Gdrug response
Escitalopram response
+4 more
Gdrug response
Escitalopram response
+4 more
Gdrug response
Escitalopram response
+4 more
Gdrug response
Citalopram response
+4 more
Gdrug response
Citalopram response
+4 more
Gdrug response
Citalopram response
+4 more
Gdrug response
Clopidogrel response
+4 more
Gdrug response
Clopidogrel response
+4 more
Gdrug response
Sertraline response
+4 more
Gdrug response
Clopidogrel response
+4 more
Gdrug response
Voriconazole response
+4 more
Gdrug response
Voriconazole response
+4 more
Gdrug response
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