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Items: 1 to 100 of 422

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997469, LOC129997470
+1002 more
Copy number gain
See cases
GPathogenic
ACAT2, ADAT2
+865 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+571 more
Copy number gain
See cases
GPathogenic
LOC129997593, LOC129997594
+563 more
Copy number loss
See cases
GPathogenic
LOC129997707, LOC129997708
+548 more
Copy number loss
See cases
GPathogenic
LOC126859906, LOC126859907
+539 more
Copy number loss
See cases
GPathogenic
LOC126859863, LOC126859864
+270 more
Copy number loss
See cases
GPathogenic
LOC129997603, LOC129997604
+115 more
Copy number gain
See cases
GUncertain significance
ACAT2, AFDN
+339 more
Copy number loss
See cases
GPathogenic
LOC113174973, LOC116183078
+321 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+322 more
Copy number loss
See cases
GPathogenic
LOC129997712, LOC129997713
+299 more
Copy number loss
See cases
GPathogenic
LOC129997709, LOC129997710
+297 more
Copy number loss
See cases
GPathogenic
PLG
Single nucleotide variant
not provided
GBenign
PLG
Single nucleotide variant
not provided
GBenign
PLG
Single nucleotide variant
not provided
GBenign
PLG
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
PLG
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
PLG
(V6M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(V6A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
Plasminogen deficiency, type I
+2 more
GLikely benign
PLG
(L14V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Duplication
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
PLG
(G17V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(G19A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLG
(Q29P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(K38E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PLG
(K39Q)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(Q40K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(E54K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(E55G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLG
(E57K)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLG
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
PLG
Deletion
(intron variant)
not provided
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
Angioedema, hereditary, 4
+2 more
GConflicting classifications of pathogenicity
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
(M76L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(A77T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(M88I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(R89T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(R89K)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLG
(K97Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
Microsatellite
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PLG
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PLG
(T105A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLG
(G106W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(G106A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+2 more
GBenign
PLG
(T114M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLG
(K119N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(T123N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(T123I)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(H133Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLG
(P135S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GBenign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLG
Deletion
(inframe_deletion)
not provided
GUncertain significance
PLG
(S138*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLG
(T141I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(H142Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(H142Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(P143S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(P143R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(E145D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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