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 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTSL4, ADAMTSL4-AS1
+37 more
Copy number gain
See cases
GLikely benign
ECM1
Single nucleotide variant
not provided
GBenign
ECM1
Single nucleotide variant
not provided
GLikely benign
ECM1
Single nucleotide variant
not provided
GBenign
ECM1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
ECM1
(A7T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
Single nucleotide variant
(intron variant)
not provided
GBenign
ECM1
Single nucleotide variant
(intron variant)
not provided
GBenign
ECM1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ECM1
(T26M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
Indel
(nonsense)
Lipid proteinosis
Gnot provided
ECM1
(E40K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
Single nucleotide variant
(intron variant)
Lipid proteinosis
GUncertain significance
ECM1
Single nucleotide variant
(synonymous variant)
ECM1-related disorder
GLikely benign
ECM1
(A44T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ECM1
(P46A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(S48fs)
Deletion
(frameshift variant)
Lipid proteinosis
GLikely pathogenic
ECM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ECM1
(P49Q)
Single nucleotide variant
(missense variant)
ECM1-related disorder
GLikely benign
ECM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ECM1
(R53*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ECM1
Single nucleotide variant
(intron variant)
not provided
GBenign
ECM1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ECM1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
ECM1
(P77S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(P78fs +1 more)
Deletion
(frameshift variant)
ECM1-related disorder
+2 more
GPathogenic/Likely pathogenic
ECM1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ECM1
(P78S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(Q108fs +1 more)
Microsatellite
(frameshift variant)
ECM1-related disorder
GLikely pathogenic
ECM1
(P85L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ECM1
(V102M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ECM1
Single nucleotide variant
(intron variant)
not provided
GBenign
ECM1
Single nucleotide variant
(intron variant)
not provided
GBenign
ECM1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ECM1
(T130M +1 more)
Single nucleotide variant
(missense variant)
Lipid proteinosis
+1 more
GBenign
ECM1
(A132V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(N173Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(W160* +1 more)
Single nucleotide variant
(nonsense)
Lipid proteinosis
GPathogenic
ECM1
(L191V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(F167V +1 more)
Single nucleotide variant
(missense variant)
ECM1-related disorder
GUncertain significance
ECM1
(F167I +1 more)
Single nucleotide variant
(missense variant)
Lipid proteinosis
GLikely pathogenic
ECM1
(G170fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
ECM1
(P195H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(P169S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(P169A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ECM1
(R171fs +1 more)
Deletion
(frameshift variant)
ECM1-related disorder
GPathogenic
ECM1
(R198L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(R171Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(C181* +1 more)
Insertion
(nonsense)
Lipid proteinosis
GPathogenic
ECM1
(L210P +1 more)
Indel
(missense variant)
Lipid proteinosis
GUncertain significance
ECM1
(I215T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ECM1
(R246C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(C220G +1 more)
Single nucleotide variant
(missense variant)
Lipid proteinosis
Gnot provided
ECM1
Single nucleotide variant
(intron variant)
not provided
GBenign
ECM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ECM1
(R243* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lipid proteinosis
Gnot provided
ECM1
(E248* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lipid proteinosis
Gnot provided
ECM1
(S250L +1 more)
Single nucleotide variant
(missense variant +1 more)
Lipid proteinosis
GUncertain significance
ECM1
(R254* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
ECM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ECM1
Single nucleotide variant
(synonymous variant +1 more)
ECM1-related disorder
+1 more
GBenign
ECM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
ECM1
(R266W +1 more)
Single nucleotide variant
(missense variant +1 more)
ECM1-related disorder
GLikely benign
ECM1
(C269Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Lipid proteinosis
GPathogenic/Likely pathogenic
ECM1
Single nucleotide variant
(synonymous variant +1 more)
ECM1-related disorder
GLikely benign
ECM1
(Q276* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lipid proteinosis
Gnot provided
ECM1
(R282Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ECM1
(D290G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ECM1
(S293L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ECM1
(R319C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ECM1
(R323C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ECM1
(N351H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ECM1
(Q332R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ECM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ECM1
(Q340fs +1 more)
Deletion
(intron variant +1 more)
Lipid proteinosis
GLikely pathogenic
ECM1
(F345I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ECM1
(Q346* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lipid proteinosis
GPathogenic
ECM1
(R350H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ECM1
(Q351* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lipid proteinosis
GLikely pathogenic
ECM1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ECM1
Deletion
(intron variant)
not provided
GBenign
ECM1
Single nucleotide variant
(intron variant)
not provided
GBenign
ECM1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ECM1
(T365N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(D367V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ECM1
(R372W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ECM1
(R385H +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ECM1
(P262S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
(N279* +2 more)
Insertion
(nonsense)
Lipid proteinosis
GPathogenic
ECM1
(R282Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ECM1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ECM1
(G290S +2 more)
Single nucleotide variant
(missense variant)
Lipid proteinosis
GBenign
ECM1
(R443* +2 more)
Single nucleotide variant
(nonsense)
Lipid proteinosis
GPathogenic/Likely pathogenic
ECM1
(R305fs +2 more)
Deletion
(frameshift variant)
Lipid proteinosis
GPathogenic
ECM1
Insertion
(intron variant)
ECM1-related disorder
+1 more
GBenign
ECM1
Deletion
(splice acceptor variant +1 more)
Lipid proteinosis
GPathogenic
ECM1
Deletion
(splice acceptor variant +1 more)
Lipid proteinosis
GPathogenic
Format
Items per page
Sort by
Choose Destination