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Links from MedGen

Items: 1 to 100 of 356

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTG1
(W79R)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1, LOC130061940
(R28*)
Single nucleotide variant
(nonsense +1 more)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1
Deletion
(inframe_indel +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely pathogenic
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
(K328R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GConflicting classifications of pathogenicity
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
(L104Q)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1, LOC130061940
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
(E2V)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
(F90S)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
(R116fs)
Duplication
(frameshift variant +1 more)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
(G366D)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GUncertain significance
ACTG1
(H275Y)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1
(C374Y)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
(M153T)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Duplication
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GBenign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1, LOC130061940
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(non-coding transcript variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
(S233F)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
ACTG1
(D311V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ACTG1
(D51N)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GPathogenic/Likely pathogenic
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
(A230D)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
(A220T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
(S145C)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
(T126A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GUncertain significance
ACTG1
(G273S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GUncertain significance
ACTG1
(K315E)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Duplication
(intron variant)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
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