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  • The following terms were not found in ClinVar: dendroica, chrysoleuca.
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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRHL3
(R363C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EYA3
(N305S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CPT2, LOC129930561
(P50H)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+13 more
GPathogenic
MYBPHL
(R232* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
KCND3
(V630A +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
(R611Q +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+3 more
GUncertain significance
KCND3
(G608R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCND3
(T600I +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
(G581R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCND3
(L586V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCND3
(R549C +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+2 more
GConflicting classifications of pathogenicity
KCND3
(R531H +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+3 more
GConflicting classifications of pathogenicity
KCND3
(P515T +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
(S499C)
Single nucleotide variant
(intron variant +1 more)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCND3
(T457M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCND3
(L450F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
KCND3
(R431H)
Single nucleotide variant
(missense variant)
Brugada syndrome 9
+3 more
GConflicting classifications of pathogenicity
KCND3
(V392I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
KCND3
(G371R)
Single nucleotide variant
(missense variant)
Brugada syndrome 9
+3 more
GPathogenic/Likely pathogenic
KCND3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
KCND3
(G273S)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
+3 more
GBenign/Likely benign
KCND3
(D116N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
+3 more
GBenign/Likely benign
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
+2 more
GLikely benign
VANGL1
(V239I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B2
(P341L)
Single nucleotide variant
(missense variant)
3 beta-Hydroxysteroid dehydrogenase deficiency
GPathogenic
LMNA
(V109fs)
Deletion
(frameshift variant +2 more)
Sick sinus syndrome
GLikely pathogenic
LMNA
(S303fs +2 more)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease type 2
+3 more
GPathogenic
LMNA
(R331Q +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
LMNA
(W520* +2 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+1 more
GPathogenic
LMNA
(R541G +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1A
GPathogenic
LMNA
(R541H +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+6 more
GPathogenic/Likely pathogenic
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal semi-dominant severe lipodystrophic laminopathy
+24 more
GConflicting classifications of pathogenicity
F5
(R534Q)
Single nucleotide variant
(missense variant)
hormonal contraceptives for systemic use response - Toxicity
Gdrug response
SERPINC1
(A296P +6 more)
Single nucleotide variant
(missense variant)
Hereditary antithrombin deficiency
GUncertain significance
CACNA1E
(A702T)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 1
+3 more
GPathogenic/Likely pathogenic
NR5A2
(T295M +2 more)
Single nucleotide variant
(missense variant)
Anophthalmia-microphthalmia syndrome
GLikely benign
C1orf74, IRF6
Deletion
Van der Woude syndrome 1
GPathogenic
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GLikely benign
IRF6
Duplication
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+2 more
GLikely benign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Deletion
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Insertion
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+2 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Duplication
(3 prime UTR variant)
Van der Woude syndrome 1
+2 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Insertion
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+2 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GBenign
IRF6
(Q372R +1 more)
Single nucleotide variant
(missense variant)
Orofacial cleft 6, susceptibility to
+3 more
GUncertain significance
IRF6
Single nucleotide variant
(synonymous variant)
Orofacial cleft 6, susceptibility to
+2 more
GLikely benign
IRF6
(A463V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
IRF6
(A463fs +1 more)
Deletion
(frameshift variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
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