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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
ACTG1-related condition
+4 more
GBenign/Likely benign
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+3 more
GBenign/Likely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+4 more
GConflicting classifications of pathogenicity
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+3 more
GBenign/Likely benign
ACTG1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+3 more
GBenign
ACTG1
(A181V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+2 more
GConflicting classifications of pathogenicity
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
ACTG1
Single nucleotide variant
(intron variant)
Baraitser-winter syndrome 2
+2 more
GBenign
ACTG1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
ACTG1
(A108V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+2 more
GConflicting classifications of pathogenicity
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+3 more
GConflicting classifications of pathogenicity
LOC130061940, ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
ACTG1, LOC130061940
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+4 more
GBenign/Likely benign
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