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Links from MedGen

Items: 1 to 100 of 122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VCL
(S787T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
GUncertain significance
VCL
(Q838*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 15
GUncertain significance
VCL
(R460P)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(G454R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(E869D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+1 more
GUncertain significance
VCL
(L448P)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+2 more
GUncertain significance
VCL
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1W
+1 more
GLikely benign
VCL
(T378A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(R769G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+2 more
GUncertain significance
VCL
(R409G)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(A269G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+1 more
GUncertain significance
VCL
(T161R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+2 more
GUncertain significance
VCL
(N229fs)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(A489T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(G282C)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+3 more
GUncertain significance
VCL
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 15
+1 more
GBenign
VCL
(R520W)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+3 more
GUncertain significance
VCL
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(Q501H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
VCL
(M209V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(P860fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(P536T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+2 more
GUncertain significance
VCL
(R416W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+2 more
GUncertain significance
VCL
(G452R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(R547Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+2 more
GUncertain significance
VCL
(V247M)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(A803T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
VCL
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 15
+2 more
GConflicting classifications of pathogenicity
VCL
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 15
+1 more
GUncertain significance
VCL
Deletion
(inframe_deletion +1 more)
Hypertrophic cardiomyopathy 15
+4 more
GUncertain significance
VCL
(P486L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+1 more
GUncertain significance
VCL
(R479W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
VCL
(P916L)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(R853Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(D176G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
VCL
(S677L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VCL
(D627N)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(R680C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
VCL
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(D540E)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(P347S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+4 more
GUncertain significance
VCL, LOC130004109
(R7L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
VCL
(R762Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+2 more
GUncertain significance
VCL
(A969T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
VCL
(A349V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AP3M1, VCL
Duplication
Hypertrophic cardiomyopathy 15
+1 more
GUncertain significance
VCL
(R285C)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(K815E)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(D256E)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(P844L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+4 more
GUncertain significance
VCL
(D800V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+3 more
GUncertain significance
VCL
Deletion
(intron variant)
not specified
+2 more
GBenign/Likely benign
VCL
(I497T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
VCL
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
VCL
(K80Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
VCL
(M209L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+3 more
GUncertain significance
VCL
(H184Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+3 more
GUncertain significance
VCL
(T643M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
VCL
(T263S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
VCL
(T153I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(P605R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(R433C)
Inversion
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
VCL
(A647V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+3 more
GUncertain significance
VCL
(V189L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+3 more
GUncertain significance
VCL
(P843L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(N53S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(M956V)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 15
+2 more
GUncertain significance
VCL
(N399H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(P942S)
Indel
(missense variant +1 more)
Hypertrophic cardiomyopathy 15
+2 more
GUncertain significance
VCL
(R622K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+1 more
GUncertain significance
VCL
(E883D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+2 more
GUncertain significance
VCL
(G344A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(I504T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
VCL
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GUncertain significance
VCL
Single nucleotide variant
(synonymous variant)
VCL-related disorder
+4 more
GLikely benign
VCL
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1W
+2 more
GLikely benign
VCL
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1W
+1 more
GBenign/Likely benign
VCL
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1W
+1 more
GBenign/Likely benign
VCL
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 15
+1 more
GUncertain significance
VCL
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 15
+1 more
GUncertain significance
VCL
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 15
+1 more
GUncertain significance
VCL
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1W
+1 more
GUncertain significance
VCL
(A936V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
VCL
(R669Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
VCL
(D429E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
VCL
(P347L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
VCL
(V198M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
+1 more
GUncertain significance
VCL
(L541V)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
VCL
(R823Q)
Single nucleotide variant
(missense variant)
VCL-related disorder
+6 more
GConflicting classifications of pathogenicity
VCL
(D511Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 15
GLikely pathogenic
VCL
Deletion
(frameshift variant +1 more)
Hypertrophic cardiomyopathy 15
+4 more
GConflicting classifications of pathogenicity
VCL
(K607Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
VCL
(R528H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+3 more
GUncertain significance
VCL
(R433H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+3 more
GUncertain significance
VCL
(P965S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1W
+3 more
GUncertain significance
VCL
(P398S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+3 more
GConflicting classifications of pathogenicity
VCL
(R975Q)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1W
+3 more
GConflicting classifications of pathogenicity
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