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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
ZNF562, ZNF699
+132 more
Duplication
Autism
GLikely pathogenic
ACTL9
(E401fs)
Deletion
(frameshift variant)
Spermatogenic failure 53
GUncertain significance
ACTL9
(Y403*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 53
GPathogenic
ACTL9
(R400Q)
Single nucleotide variant
(missense variant)
ACTL9-related disorder
GLikely benign
ACTL9
(V398A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(R391S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(V380L)
Single nucleotide variant
(missense variant)
Spermatogenic failure 53
GPathogenic
ACTL9
(S345L)
Single nucleotide variant
(missense variant)
Spermatogenic failure 53
GPathogenic
ACTL9
(N337K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(L334S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(A319S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(K292R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(R286C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(K281R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(E275K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(S263C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(V261M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(E252K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(L228V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(V208I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(Y204N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(G201R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(H200Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(S192R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(G189S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(A174T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(R171C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(V165E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(D143N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(R130L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(E107Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(G99R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(T72S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(P38R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(R35Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACTL9
(N23I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(R19K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(E16D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(E16G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTL9
(S8P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACTL9, MBD3L1
+3 more
Copy number gain
not provided
GUncertain significance
ACTL9, MBD3L1
+8 more
Copy number gain
not provided
GUncertain significance
OR7E24, OR7G1
+31 more
Copy number gain
not provided
GUncertain significance
ACER1, ACSBG2
+165 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
ACTL9, ADAMTS10
+28 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
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