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Items: 1 to 100 of 575

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130061805, LOC130061806
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+513 more
Copy number gain
See cases
GPathogenic
LOC126862671, LOC126862672
+387 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+385 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+262 more
Copy number gain
See cases
GPathogenic
LOC130062002, LOC130062003
+226 more
Copy number loss
See cases
GLikely pathogenic
ACTG1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ACTG1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ACTG1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
ACTG1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+3 more
GBenign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
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)
ACTG1-related condition
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+3 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
+2 more
GLikely benign
ACTG1
(V370A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
GPathogenic
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+2 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)
not provided
GLikely benign
ACTG1
(S368F)
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)
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
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ACTG1
(D363del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
(M355R)
Single nucleotide variant
(missense 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
(non-coding transcript 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
+2 more
GLikely benign
ACTG1
(T351A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTG1
(T351P)
Single nucleotide variant
(missense variant +1 more)
not specified
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
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
ACTG1-related condition
+1 more
GLikely benign
ACTG1
(A347S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
(L346V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+3 more
GConflicting classifications of pathogenicity
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Baraitser-winter syndrome 2
+3 more
GBenign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not provided
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
+4 more
GBenign/Likely benign
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
ACTG1
(S338W)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GLikely pathogenic
ACTG1
(S338L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
(R335H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ACTG1
(R335C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACTG1
(E334D)
Single nucleotide variant
(missense variant +1 more)
Rare genetic deafness
GLikely pathogenic
ACTG1
(E334Q)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
GUncertain significance
ACTG1
(P333R)
Single nucleotide variant
(missense variant +1 more)
ACTG1-related condition
+1 more
GConflicting classifications of pathogenicity
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
ACTG1
(P332A)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
+1 more
GPathogenic
ACTG1
(A331T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTG1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Duplication
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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
+3 more
GBenign/Likely benign
ACTG1
Single nucleotide variant
(intron variant)
ACTG1-related condition
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
ACTG1-related condition
GUncertain significance
ACTG1
Duplication
(intron variant)
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)
not specified
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTG1
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTG1
Deletion
(intron variant)
not provided
+2 more
GBenign
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
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Duplication
(intron variant)
not provided
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
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
ACTG1
Single nucleotide variant
(intron variant)
ACTG1-related condition
+2 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)
not provided
+3 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
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+1 more
GLikely benign
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