U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 169

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP, DSP-AS1
(V30M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
DSP-AS1, DSP
(R39S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GConflicting classifications of pathogenicity
DSP-AS1, DSP
(G46D)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
DSP, DSP-AS1
Deletion
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GUncertain significance
DSP
(C57*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GLikely pathogenic
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GConflicting classifications of pathogenicity
DSP
(C81Y)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
DSP
(Q90R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(intron variant)
not provided
+10 more
GConflicting classifications of pathogenicity
DSP
Indel
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GUncertain significance
DSP
(R129Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
DSP
(R162H)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GLikely benign
DSP
(L192S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
DSP
(D230N)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
DSP
(N274fs)
Duplication
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
DSP
(I275V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(N287S)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GUncertain significance
DSP
(I305F)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+8 more
GBenign/Likely benign
DSP
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
+6 more
GPathogenic/Likely pathogenic
DSP
(R315C)
Single nucleotide variant
(missense variant)
Woolly hair-skin fragility syndrome
+7 more
GConflicting classifications of pathogenicity
DSP
(Q355*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GLikely pathogenic
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GConflicting classifications of pathogenicity
DSP
(A385V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GLikely benign
DSP
(L421P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+3 more
GConflicting classifications of pathogenicity
DSP
(R425*)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic/Likely pathogenic
DSP
(E430*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GPathogenic/Likely pathogenic
DSP
(R451H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
DSP
Deletion
(intron variant)
Cardiomyopathy
GUncertain significance
DSP
(C482R)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Woolly hair-skin fragility syndrome
+7 more
GBenign/Likely benign
DSP
(S507F)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GLikely pathogenic
DSP
Single nucleotide variant
(intron variant)
Cardiomyopathy
+2 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
DSP
(Q588*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
DSP
(T657I)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GBenign/Likely benign
DSP
(I679K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GLikely benign
DSP
(L767V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
(R808C)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
DSP
(R808H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(splice donor variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GPathogenic/Likely pathogenic
DSP
Duplication
(intron variant)
Cardiomyopathy
GBenign
DSP
(L851Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+3 more
GLikely benign
DSP
(R866C)
Single nucleotide variant
(missense variant)
Woolly hair-skin fragility syndrome
+9 more
GConflicting classifications of pathogenicity
DSP
(I874M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GBenign/Likely benign
DSP
(R908H)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+8 more
GConflicting classifications of pathogenicity
DSP
(R925W)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+12 more
GConflicting classifications of pathogenicity
DSP
(R925Q)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
DSP
(L933F)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
DSP
(G939S)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+8 more
GBenign/Likely benign
DSP
(R941*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
DSP
(S970fs)
Deletion
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
DSP
(L975P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
DSP
(I978V)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GBenign/Likely benign
DSP
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GConflicting classifications of pathogenicity
DSP
(D1046G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
DSP
(E1151*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GLikely pathogenic
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GBenign/Likely benign
DSP
(R1184W)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+8 more
GConflicting classifications of pathogenicity
DSP
(R1184Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
DSP
(Y1188H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
DSP
(E1191*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GPathogenic/Likely pathogenic
DSP
(L1206I)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DSP
(E1211D)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
(I1216V)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
DSP
(L1249V)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GLikely benign
DSP
(R1269*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GPathogenic/Likely pathogenic
DSP
(K1288Q)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
DSP
(R1308W)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
DSP
(R1308L)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GUncertain significance
DSP
(R1308Q)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
+10 more
GBenign/Likely benign
DSP
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GLikely benign
DSP
(E1328Q)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant +1 more)
Woolly hair-skin fragility syndrome
+8 more
GConflicting classifications of pathogenicity
DSP
(T1381S)
Single nucleotide variant
(missense variant +1 more)
Woolly hair-skin fragility syndrome
+7 more
GBenign/Likely benign
DSP
(R1392Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
DSP
(R1400Q)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GConflicting classifications of pathogenicity
DSP
(S1438P)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
DSP
(Q1445fs)
Duplication
(frameshift variant +1 more)
Cardiomyopathy
GLikely pathogenic
DSP
(R1458G)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+9 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant +1 more)
Woolly hair-skin fragility syndrome
+7 more
GBenign/Likely benign
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GBenign/Likely benign
DSP
(I1483L)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
(R1485S)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+9 more
GBenign/Likely benign
DSP
(L1489R)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination