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Items: 1 to 100 of 586

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+439 more
Copy number gain
See cases
GPathogenic
BRAT1, ACTB
+381 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+357 more
Copy number loss
See cases
GPathogenic
ACTB, ADAP1
+418 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
ACTB, FBXL18
+75 more
Copy number gain
See cases
GLikely pathogenic
ACTB, AIMP2
+119 more
Copy number gain
See cases
GUncertain significance
ACTB, FBXL18
+71 more
Copy number loss
See cases
GPathogenic
LOC129997877, LOC129997878
+137 more
Copy number loss
See cases
GPathogenic
ACTB, FBXL18
+69 more
Copy number loss
See cases
GPathogenic
ACTB, FBXL18
+52 more
Copy number gain
See cases
GUncertain significance
LINC03073, LOC106783574
+120 more
Copy number gain
See cases
GLikely pathogenic
ACTB, AIMP2
+78 more
Copy number gain
See cases
GUncertain significance
ACTB, AIMP2
+63 more
Copy number loss
See cases
GPathogenic
ACTB, FBXL18
+50 more
Copy number gain
See cases
GLikely pathogenic
ACTB, AIMP2
+71 more
Copy number loss
See cases
GLikely pathogenic
ACTB, FBXL18
+10 more
Copy number loss
See cases
GPathogenic
ACTB
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ACTB
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ACTB
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ACTB
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ACTB
Duplication
(3 prime UTR variant)
not provided
GBenign
ACTB
Deletion
(3 prime UTR variant)
not provided
GBenign
ACTB
Duplication
(3 prime UTR variant)
not provided
GLikely benign
ACTB
(D311fs)
Deletion
(frameshift variant +2 more)
not provided
GLikely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
(C374Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTB
(K373*)
Single nucleotide variant
(nonsense)
Baraitser-Winter syndrome 1
GPathogenic
ACTB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACTB
(R372H)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
GUncertain significance
ACTB
(H371Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTB
(V370G)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
GUncertain significance
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+2 more
GBenign/Likely benign
ACTB
(I369fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
ACTB
(S368fs)
Duplication
(frameshift variant)
Thrombocytopenia 8, with dysmorphic features and developmental delay
GPathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
(S368fs)
Duplication
(frameshift variant)
Inborn genetic diseases
GLikely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
(S365C)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
GUncertain significance
ACTB
(E364K)
Single nucleotide variant
(missense variant)
Thrombocytopenia
+1 more
GConflicting classifications of pathogenicity
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GLikely benign
ACTB
(Y362C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTB
(M355fs)
Deletion
(frameshift variant)
Baraitser-Winter syndrome 1
GUncertain significance
ACTB
(E361K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTB
(Q360fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder
GLikely pathogenic
ACTB
(Q360fs)
Duplication
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ACTB
Indel
(nonsense)
Developmental malformations-deafness-dystonia syndrome
GLikely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
(W356R)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
+2 more
GConflicting classifications of pathogenicity
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
(Q353P)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
GUncertain significance
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
(L349V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GBenign
ACTB
(S348L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GBenign
ACTB
(G343D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Deletion
(inframe_indel +1 more)
Thrombocytopenia 8, with dysmorphic features and developmental delay
GPathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GBenign
ACTB
(I341V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTB
(I341L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTB
(W340C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACTB
(W340C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+3 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+1 more
GLikely benign
ACTB
(S338F)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
GLikely pathogenic
ACTB
(Y337*)
Duplication
(nonsense +1 more)
ACTB-related disorder
GLikely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ACTB
(A331fs)
Deletion
(frameshift variant)
Thrombocytopenia 8, with dysmorphic features and developmental delay
GPathogenic
ACTB
(R335P)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
GUncertain significance
ACTB
(R335C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Duplication
(splice acceptor variant)
not provided
GUncertain significance
ACTB
(A331fs)
Duplication
(frameshift variant)
Inborn genetic diseases
GPathogenic
ACTB
Microsatellite
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
GBenign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTB
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
ACTB
Duplication
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
GLikely benign
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