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Links from MedGen

Items: 1 to 100 of 223

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCAP
(E132Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
GUncertain significance
CASC3, CDC6
+20 more
Duplication
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(R17H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(T45I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
(L60V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(S155C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(T109A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Duplication
(inframe_insertion)
Hypertrophic cardiomyopathy 25
+2 more
GUncertain significance
TCAP
(G150R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(V143G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(I73T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(Y51fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 25
+1 more
GPathogenic
TCAP
Microsatellite
(nonsense)
Hypertrophic cardiomyopathy 25
+1 more
GPathogenic
TCAP
(T137fs)
Indel
(frameshift variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(P142fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
Single nucleotide variant
(splice donor variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GPathogenic
TCAP
(D44N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(I93V)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TCAP
(S157T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+2 more
GUncertain significance
TCAP
(M160T)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(G167A)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(E120fs)
Microsatellite
(frameshift variant)
Hypertrophic cardiomyopathy 25
GLikely pathogenic
TCAP
Single nucleotide variant
(intron variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Single nucleotide variant
(intron variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
TCAP
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(P142fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(I136L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(M160fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(Q139*)
Single nucleotide variant
(nonsense)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(E13K)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GUncertain significance
TCAP
(I136N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(P92H)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(P90Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(E12fs)
Deletion
(frameshift variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GPathogenic
TCAP
(D129E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
TCAP
(P141L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(C8R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(I111fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TCAP
(R166G)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(E105del)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+3 more
GUncertain significance
TCAP
(E80G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(P149R)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(Q56*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 25
+1 more
GPathogenic
TCAP
(M69del)
Microsatellite
(inframe_deletion)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(P142T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(R33L)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(E16K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(A151fs)
Duplication
(frameshift variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(M68V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+3 more
GLikely benign
TCAP
Single nucleotide variant
(intron variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GBenign
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TCAP
(C57*)
Single nucleotide variant
(nonsense)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely pathogenic
TCAP
Single nucleotide variant
(intron variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GPathogenic
TCAP
Duplication
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
Microsatellite
(no sequence alteration)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(M99V)
Indel
(missense variant)
Hypertrophic cardiomyopathy 25
+2 more
GUncertain significance
TCAP
(M160V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2G
+2 more
GUncertain significance
TCAP
(P65L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2G
+3 more
GUncertain significance
TCAP
(C8F)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(I111L)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(R153S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2G
+2 more
GUncertain significance
TCAP
(A20S)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(I93T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(R158L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
(P149A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+4 more
GLikely benign
TCAP
(Q46R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 25
+1 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(S159C)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(S157F)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TCAP
(R154H)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GUncertain significance
TCAP
(V88L)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
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