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Links from MedGen

Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFB3
(V333I)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
(R77Q)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+3 more
GUncertain significance
TGFB3
(R87M)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+3 more
GUncertain significance
TGFB3
Deletion
(intron variant)
Rienhoff syndrome
+2 more
GLikely benign
TGFB3
(S138fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 1
GPathogenic
PKP2
(Y642* +1 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 1
+1 more
GPathogenic/Likely pathogenic
PKP2
Single nucleotide variant
(splice acceptor variant)
Arrhythmogenic right ventricular dysplasia 1
GLikely pathogenic
DSC2
(Q638fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 1
GLikely pathogenic
TGFB3
(P284S)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
+3 more
GLikely benign
TGFB3
(D109N)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+2 more
GUncertain significance
TTN, TTN-AS1
(R20544* +5 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
TGFB3
(K407E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+3 more
GUncertain significance
TGFB3
(G262V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
GUncertain significance
PLEC
(A753G +6 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
GUncertain significance
PLEC
(L3841V +6 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
GLikely benign
TGFB3
(R287W)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+4 more
GUncertain significance
TGFB3
(H34R)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+3 more
GLikely benign
TGFB3
(L79V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+2 more
GUncertain significance
TGFB3
(M1V)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 1
+2 more
GUncertain significance
TGFB3
(R155Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+2 more
GUncertain significance
TGFB3
(D303A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+1 more
GUncertain significance
TGFB3
(V253M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+3 more
GUncertain significance
TGFB3
(R155W)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+3 more
GConflicting classifications of pathogenicity
DSP
(D1258E)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 1
+5 more
GConflicting classifications of pathogenicity
TGFB3
(L368fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
TGFB3
Single nucleotide variant
(splice acceptor variant)
Rienhoff syndrome
+1 more
GLikely pathogenic
TGFB3
(Y390F)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+3 more
GUncertain significance
TGFB3
(I322T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+3 more
GConflicting classifications of pathogenicity
TGFB3
(P291L)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+3 more
GUncertain significance
TGFB3
(R163Q)
Single nucleotide variant
(missense variant)
TGFB3-related condition
+4 more
GConflicting classifications of pathogenicity
TGFB3
(R194W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TGFB3
(G33S)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+3 more
GUncertain significance
TGFB3
(S345*)
Single nucleotide variant
(nonsense)
Developmental disorder
+4 more
GPathogenic/Likely pathogenic
PKP2
(Y631C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TGFB3
(T26S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DSG2
(T90I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TGFB3
Duplication
(5 prime UTR variant)
Rienhoff syndrome
+2 more
GUncertain significance
TGFB3
Deletion
(5 prime UTR variant)
Rienhoff syndrome
+2 more
GUncertain significance
TGFB3
Microsatellite
(5 prime UTR variant)
Rienhoff syndrome
+2 more
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
+3 more
GLikely benign
TGFB3
(T28P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+3 more
GUncertain significance
TGFB3
(T60M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+4 more
GLikely benign
RYR2
(T1399K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
GUncertain significance
LOC126806427, TTN
Microsatellite
(splice acceptor variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
RYR2
(S1638T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
RYR2
(V382M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
PLEC
(R2652Q +6 more)
Single nucleotide variant
(missense variant)
PLEC-related condition
+8 more
GConflicting classifications of pathogenicity
PLEC
(A1792V +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Ogna type
+9 more
GConflicting classifications of pathogenicity
PLEC
(R1765H +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+6 more
GUncertain significance
TGFB3
(R163W)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
TGFB3
(G187S)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+3 more
GUncertain significance
DSP
(A1688V)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+3 more
GConflicting classifications of pathogenicity
PLEC
(R1794W +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+7 more
GBenign/Likely benign
DSC2
(T340A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
TTN
Microsatellite
(inframe_deletion +1 more)
TTN-related condition
+7 more
GConflicting classifications of pathogenicity
DSG2
(V158G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GBenign/Likely benign
MYBPC3
(R382W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
MYBPC3
(E441K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
DSG2
(V392I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TGFB3
Single nucleotide variant
(3 prime UTR variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
Single nucleotide variant
(5 prime UTR variant)
Rienhoff syndrome
+2 more
GUncertain significance
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