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Links from MedGen

Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTB
Indel
(nonsense)
Developmental malformations-deafness-dystonia syndrome
GLikely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+1 more
GLikely benign
ACTB
(F200V)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
+1 more
GLikely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
+2 more
GBenign/Likely benign
ACTB
(Y53C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+1 more
GLikely benign
ACTB
(W86*)
Single nucleotide variant
(nonsense)
Developmental malformations-deafness-dystonia syndrome
GUncertain significance
ACTB
(P164H)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
+1 more
GLikely pathogenic
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GLikely benign
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+1 more
GLikely benign
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+2 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(intron variant)
Developmental malformations-deafness-dystonia syndrome
+1 more
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Developmental malformations-deafness-dystonia syndrome
+1 more
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Developmental malformations-deafness-dystonia syndrome
+1 more
GLikely benign
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+2 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(intron variant)
Developmental malformations-deafness-dystonia syndrome
+2 more
GBenign
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+1 more
GLikely benign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GBenign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GBenign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+1 more
GLikely benign
ACTB
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+1 more
GConflicting classifications of pathogenicity
ACTB
(H73Q)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
+1 more
GLikely pathogenic
ACTB
Single nucleotide variant
(intron variant)
Developmental malformations-deafness-dystonia syndrome
+2 more
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Developmental malformations-deafness-dystonia syndrome
+2 more
GBenign
ACTB
Single nucleotide variant
(intron variant)
Developmental malformations-deafness-dystonia syndrome
+2 more
GBenign
ACTB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GLikely benign
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+2 more
GLikely benign
ACTB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+1 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+1 more
GLikely benign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
+2 more
GLikely benign
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
+2 more
GLikely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
+3 more
GBenign
ACTB
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+2 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
+2 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(intron variant)
Baraitser-Winter syndrome 1
+2 more
GBenign
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+3 more
GBenign
ACTB
Single nucleotide variant
(synonymous variant)
Developmental malformations-deafness-dystonia syndrome
+3 more
GBenign
ACTB
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
ACTB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ACTB
Single nucleotide variant
(synonymous variant)
Baraitser-Winter syndrome 1
+2 more
GBenign
ACTB
(R183W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic
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