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Items: 1 to 100 of 1754

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
ABCC9, AEBP2
+101 more
Copy number loss
See cases
GPathogenic
ABCC9, AEBP2
+133 more
Copy number loss
See cases
GLikely pathogenic
ABCC9, AEBP2
+179 more
Copy number loss
See cases
GPathogenic
ABCC9
Single nucleotide variant
(3 prime UTR variant)
not specified
GBenign
ABCC9
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
ABCC9
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
ABCC9
(R1546L +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
ABCC9
(F1255V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC9
(S1254C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC9
(A1246fs +1 more)
Duplication
(frameshift variant +1 more)
See cases
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
ABCC9
(A1513T +1 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GPathogenic
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC9
(T1512M +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial fibrillation, familial, 12
+1 more
Gnot provided
ABCC9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC9
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(stop lost +1 more)
Dilated cardiomyopathy 1O
+3 more
GUncertain significance
ABCC9
(N1548K)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(T1547I)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+2 more
GUncertain significance
ABCC9
(L1544S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+1 more
GConflicting classifications of pathogenicity
ABCC9
(T1543I)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(T1543A)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(N1538S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABCC9
(K1537R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+1 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(H1536Y)
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(A1535N)
Indel
(missense variant +1 more)
Dilated cardiomyopathy 1O
+2 more
GUncertain significance
ABCC9
(A1535D)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
GUncertain significance
ABCC9
(A1535T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(N1532S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(P1531S)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
ABCC9
(V1525G)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(V1525E)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(L1524fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
ABCC9
(V1525M)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(V1525fs)
Insertion
(frameshift variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCC9
(L1524fs)
Deletion
(frameshift variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
ABCC9
(L1524fs)
Duplication
(intron variant +1 more)
not specified
GUncertain significance
ABCC9
(L1524fs)
Indel
(frameshift variant +1 more)
not specified
+5 more
GUncertain significance
ABCC9
(L1524*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
ABCC9
(L1524*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely benign
ABCC9
Insertion
(inframe_insertion +1 more)
not provided
+1 more
GLikely benign
ABCC9
(L1524I)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ABCC9
(I1523M)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
ABCC9
(G1522C)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(G1522S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(E1521D)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(S1520Y)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
(S1520C)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
(S1520T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
(V1518I)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(V1516I)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(L1515P)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(L1515R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(G1514fs)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(A1513T)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(D1512N)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(R1506fs)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(V1507fs)
Microsatellite
(frameshift variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(V1507L)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(V1507F)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
(V1507I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
ABCC9
(R1506H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
ABCC9
(R1506C)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ABCC9
(H1505R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(H1505N)
Single nucleotide variant
(missense variant +1 more)
Hypertrichotic osteochondrodysplasia Cantu type
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Deletion
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Microsatellite
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCC9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
+1 more
GLikely benign
ABCC9
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
+1 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
+3 more
GConflicting classifications of pathogenicity
ABCC9
(V1211M +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
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