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 1721

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123775388, LOC123775389
+1449 more
Copy number gain
See cases
GPathogenic
LOC129389591, LOC129389592
+558 more
Copy number loss
See cases
GPathogenic
LOC129997076, LOC129997077
+460 more
Copy number loss
See cases
GPathogenic
AFG1L, AK9
+297 more
Copy number loss
See cases
GPathogenic
AFG1L, AK9
+472 more
Copy number loss
See cases
GPathogenic
AFG1L, AK9
+224 more
Copy number loss
See cases
GPathogenic
AK9, AKAP7
+519 more
Copy number loss
See cases
GPathogenic
CCN6, FAM229B
+15 more
Copy number gain
See cases
GUncertain significance
CCN6, FAM229B
+10 more
Copy number loss
See cases
GUncertain significance
LAMA4
Single nucleotide variant
(3 prime UTR variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
(P1814S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
(C1813R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(S1812F +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(I1810T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
LAMA4
(S1809R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
Duplication
(frameshift variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(S1816fs +1 more)
Duplication
(frameshift variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LAMA4
(V1808I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+3 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LAMA4
(A1807S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(A1807T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
(G1806S +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
LAMA4
(K1800E +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
+1 more
GLikely benign
LAMA4
(P1795Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+1 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
+2 more
GLikely benign
LAMA4
(G1800R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(D1799V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(I1798S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LAMA4
(I1791T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+2 more
GUncertain significance
LAMA4
(H1795P +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(H1788Y +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
(R1787S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(R1787C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LAMA4
(C1792Y +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(T1783I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LAMA4
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
Deletion
(splice acceptor variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(R1775H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+2 more
GUncertain significance
LAMA4
(R1775C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LAMA4
(P1774L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAMA4
(P1781S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
Single nucleotide variant
(intron variant)
not provided
GBenign
LAMA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
+1 more
GBenign
LAMA4
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
LAMA4
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(G1773D +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(G1766S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(V1764F +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(F1763S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
(I1756T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(P1750L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LAMA4
(P1757S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+1 more
GUncertain significance
LAMA4
(G1749E +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+1 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
(N1745D +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+1 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
+2 more
GLikely benign
LAMA4
(D1739G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(Q1737H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(Q1737* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LAMA4
(V1735M +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(S1740F +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(D1732N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(R1738S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
LAMA4
Deletion
(intron variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
Duplication
(intron variant)
not provided
GBenign
LAMA4
Single nucleotide variant
(intron variant)
not provided
GBenign
LAMA4
Single nucleotide variant
(intron variant)
not provided
GBenign
LAMA4
Single nucleotide variant
(intron variant)
not provided
GBenign
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1JJ
+2 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
LAMA4
(H1732Y +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+1 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
LAMA4
(G1722D +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
(Q1717H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
LAMA4
(T1721I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
+1 more
GBenign
LAMA4
(V1713D +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(V1713N +1 more)
Indel
(missense variant)
Cardiovascular phenotype
GUncertain significance
LAMA4
(V1720I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
Format
Items per page
Sort by
Choose Destination