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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
ACOT13, ALDH5A1
+64 more
Copy number loss
See cases
GUncertain significance
SCGN
(S3N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(F17C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
Deletion
(splice acceptor variant)
not provided
GBenign
SCGN
(G30D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(I32T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(K35E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(Q64R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(I78F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(V108M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(R115L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCGN
(A144T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(S146F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(L150Q)
Single nucleotide variant
(missense variant)
SCGN-related disorder
GLikely benign
SCGN
(R168W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(N172D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(I237V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(C253Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(V255L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGN
(N275D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CARMIL1, H2AC1
+7 more
Copy number gain
not specified
GUncertain significance
ACOT13, ALDH5A1
+38 more
Copy number loss
not provided
GLikely pathogenic
CARMIL1, H2AC1
+2 more
Copy number gain
not provided
GUncertain significance
SLC17A3, H2AC1
+4 more
Copy number loss
not provided
GUncertain significance
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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