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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC130064626, LOC130064627
+215 more
Duplication
Schizophrenia
GLikely pathogenic
PHLDB3, PINLYP
+55 more
Copy number gain
See cases
GUncertain significance
IRGC
(P7S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(V8M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(I17V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(T60M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(S63P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(G83A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(V107L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRGC
(L126V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(R133C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(S141A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(R143C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(R144H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(V148I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(T150I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(R151H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(R181Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRGC
(A199T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(P210R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(R240Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(Q257E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(V273M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(A288T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(S304I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRGC
(G324D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRGC
(E337K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(S350L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(V372L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(G375S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(A380T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IRGC
(G426R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IRGC
(G427D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(G429R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(G433E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(W455C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(K456N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRGC
(S460L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM4, CEACAM16
+37 more
Duplication
Ethylmalonic encephalopathy
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
APOC1, APOC2
+120 more
Copy number loss
See cases
GPathogenic
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