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Links from MedGen

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA1
Single nucleotide variant
(synonymous variant)
Congenital myopathy with fiber type disproportion
+2 more
GUncertain significance
ACTA1
Single nucleotide variant
(synonymous variant)
Congenital myopathy with fiber type disproportion
+2 more
GUncertain significance
ACTA1
Single nucleotide variant
(3 prime UTR variant)
Actin accumulation myopathy
+2 more
GUncertain significance
ACTA1
Single nucleotide variant
(3 prime UTR variant)
Actin accumulation myopathy
+2 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
+2 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
+2 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
+2 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(synonymous variant)
Congenital myopathy with fiber type disproportion
+2 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(synonymous variant)
Familial restrictive cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LOC126806423, TTN
+1 more
Insertion
(splice donor variant)
Familial restrictive cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
TTN
Single nucleotide variant
(intron variant)
Familial restrictive cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
TTN
Single nucleotide variant
(intron variant +1 more)
Familial restrictive cardiomyopathy
GUncertain significance
PRDM16
(G791D)
Single nucleotide variant
(missense variant)
Familial restrictive cardiomyopathy
GUncertain significance
DMD
(A1655V +7 more)
Single nucleotide variant
(missense variant)
Familial restrictive cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
TNNI3
(E209*)
Duplication
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(synonymous variant)
Familial restrictive cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(no sequence alteration)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+5 more
GBenign/Likely benign
DNAAF3, TNNI3
(V516M +3 more)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Recessive
+5 more
GBenign/Likely benign
TNNI3
Single nucleotide variant
Familial restrictive cardiomyopathy
+4 more
GLikely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+6 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(5 prime UTR variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
TNNI3
Single nucleotide variant
(5 prime UTR variant)
Dilated Cardiomyopathy, Recessive
+4 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(5 prime UTR variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+4 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(synonymous variant)
Familial restrictive cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
GJD2-DT, ACTC1
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
(5 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Microsatellite
(5 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+5 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
(5 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+5 more
GConflicting classifications of pathogenicity
GJD2-DT, ACTC1
Microsatellite
(intron variant)
Dilated Cardiomyopathy, Dominant
+9 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Atrial septal defect
+10 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Hypertrophic cardiomyopathy 11
+10 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Hypertrophic cardiomyopathy 11
+9 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Dilated Cardiomyopathy, Dominant
+9 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Dilated Cardiomyopathy, Dominant
+9 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Insertion
(intron variant)
Hypertrophic cardiomyopathy 11
+7 more
GConflicting classifications of pathogenicity
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
ACTC1-related disorder
+5 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTA1, LOC122152321
Single nucleotide variant
(5 prime UTR variant)
Familial restrictive cardiomyopathy
+3 more
GBenign
LOC122152321, ACTA1
Indel
(5 prime UTR variant)
Congenital myopathy with fiber type disproportion
+2 more
GUncertain significance
ACTA1, LOC122152321
Single nucleotide variant
(5 prime UTR variant)
Familial restrictive cardiomyopathy
+3 more
GBenign
ACTA1
Single nucleotide variant
(synonymous variant)
Congenital myopathy with fiber type disproportion
+2 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(intron variant)
Familial restrictive cardiomyopathy
+2 more
GUncertain significance
ACTA1
Single nucleotide variant
(intron variant)
Actin accumulation myopathy
+3 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(synonymous variant)
ACTA1-related disorder
+4 more
GBenign/Likely benign
ACTA1
Insertion
(intron variant)
Nemaline myopathy
+3 more
GConflicting classifications of pathogenicity
ACTA1
Insertion
(intron variant)
Nemaline myopathy
+3 more
GConflicting classifications of pathogenicity
ACTA1
Duplication
(intron variant)
Nemaline myopathy
+3 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(synonymous variant)
Congenital myopathy with fiber type disproportion
+2 more
GUncertain significance
ACTA1
(I371M)
Single nucleotide variant
(missense variant)
Familial restrictive cardiomyopathy
+2 more
GUncertain significance
TNNT2
Single nucleotide variant
(5 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
TNNT2
(I228V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
TNNT2
Single nucleotide variant
(3 prime UTR variant)
Familial restrictive cardiomyopathy
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 2
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 2
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
(G224S +3 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
DNAAF3-AS1, TNNI3
+1 more
Single nucleotide variant
(synonymous variant)
Dilated Cardiomyopathy, Recessive
+6 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 2
+7 more
GBenign/Likely benign
DNAAF3-AS1, DNAAF3
+1 more
Single nucleotide variant
(intron variant)
not provided
+6 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 2
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+2 more
(L381P +3 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
(E339G +3 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
ACTA1
Single nucleotide variant
(synonymous variant)
Congenital myopathy with fiber type disproportion
+5 more
GBenign/Likely benign
ACTA1
Single nucleotide variant
(synonymous variant)
Congenital myopathy with fiber type disproportion
+4 more
GConflicting classifications of pathogenicity
DMD
(D758A +3 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 3B
+5 more
GConflicting classifications of pathogenicity
DSP
(R925Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+8 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
DNAAF3, TNNI3
Single nucleotide variant
(5 prime UTR variant)
Hypertrophic cardiomyopathy 7
+8 more
GBenign/Likely benign
TNNI3, TNNT1
Single nucleotide variant
(intron variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+6 more
GBenign/Likely benign
ACTA1
Single nucleotide variant
(synonymous variant)
Familial restrictive cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(synonymous variant)
Familial restrictive cardiomyopathy
+3 more
GBenign/Likely benign
ACTA1
Single nucleotide variant
(intron variant)
Familial restrictive cardiomyopathy
+4 more
GBenign
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