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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
EGFL8, PPT2-EGFL8
(G36V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(Q41R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(R68S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(Y74*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
EGFL8, PPT2-EGFL8
(R79H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(A107T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(I113N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(V125I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(G135S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(V145M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(D146G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(C148Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(R149S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(H158R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
EGFL8, PPT2-EGFL8
(G169S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(I196M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(E208G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(R209C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(R209H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(V242L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(R261G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EGFL8, PPT2-EGFL8
(R261Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ABHD16A, AGER
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
AGER, AGPAT1
+13 more
Copy number gain
not specified
GUncertain significance
AGER, AGPAT1
+19 more
Copy number gain
not provided
GUncertain significance
ABHD16A, AGER
+117 more
Copy number gain
not provided
GLikely pathogenic
AGER, AGPAT1
+13 more
Copy number gain
not provided
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
AGER, AGPAT1
+10 more
Copy number gain
See cases
GUncertain significance
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