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Items: 1 to 100 of 995

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
PDZD7
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
PDZD7
(P1033L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(P1033S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R1031H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
PDZD7
(R1031C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(P1028H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(A1027T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PDZD7
(K1025E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Deletion
(inframe_deletion)
not provided
GUncertain significance
PDZD7
(T1021I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(Q1020fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(S1016fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
PDZD7
(P1015S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(P1009fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(T1002fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(R1005S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(Q1008fs)
Insertion
(frameshift variant)
not provided
GUncertain significance
PDZD7
(P1000L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(P1000A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(Q998fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(L990F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
Deletion
(inframe_deletion)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
PDZD7
(Q978K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(G968D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(G968C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(G967A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(L964V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(A963G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(D960A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(R955Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R955W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(P952fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(G951R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(S953fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(V949D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R948T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(M943V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R940Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R940W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(R936Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R932fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
PDZD7
(R936G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R936*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PDZD7
(R933P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R933Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R933del)
Deletion
(inframe_deletion)
not provided
GConflicting classifications of pathogenicity
PDZD7
(R933W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R932H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R932C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(T930N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(D929G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(A927V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R926H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(R926C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(H924Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(T923A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(Q921R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(N918fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(G916A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(G916R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(G916R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD7
(E910K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PDZD7
(F909L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PDZD7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDZD7
Single nucleotide variant
(intron variant)
PDZD7-related disorder
+1 more
GConflicting classifications of pathogenicity
PDZD7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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