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Items: 77

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
H1-1, H1-2
+30 more
Copy number gain
See cases
GLikely benign
H1-1, H1-2
+85 more
Copy number gain
See cases
GLikely benign
H1-2
(A208V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(P205L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(P205A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(V202L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(K201Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(P195L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(P195S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(A192P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(A189V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(S188N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(K184Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(P182S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(A180G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(S173I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(S173R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(A171P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(K169Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(K168N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(T165I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(K156N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(P155L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(P155S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(K153N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996013
(G143A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996013
(K139N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996013
(K139R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
H1-2, LOC129996013
(K136R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996013
(K136Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996013
(A135P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(V132I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(P128A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
H1-2
(G114A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2
(A112V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(T99S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(T96A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(T92I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(G91S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
H1-2, LOC129996014
(V88L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(L82V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(I80V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(E74D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(D72E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(Y71C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(A68S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(A65T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(S55N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(A50V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(A50S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(K46N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(P38T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(G37S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(G37C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(K34M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(P32L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(G30S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(A25T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(K23T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(K23E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(A18T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
H1-2, LOC129996014
(A15V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(P13L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(P13S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H1-2, LOC129996014
(A8T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT13, ALDH5A1
+38 more
Copy number loss
not provided
GLikely pathogenic
BTN2A1, BTN2A2
+42 more
Copy number gain
not specified
GUncertain significance
H1-1, H1-2
+14 more
Copy number loss
not provided
GPathogenic
H2BC7, H2BC8
+34 more
Copy number gain
not provided
GUncertain significance
H1-1, H1-2
+33 more
Copy number gain
not provided
GUncertain significance
H1-1, H1-2
+34 more
Copy number gain
not provided
GUncertain significance
H1-1, H1-2
+36 more
Copy number gain
not provided
GUncertain significance
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
H3C2, H3C3
+6 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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