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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO1A
(G674D)
Single nucleotide variant
(missense variant)
MYO1A-related condition
+1 more
GLikely benign
MYO1A
Single nucleotide variant
(splice donor variant)
Autosomal dominant nonsyndromic hearing loss 48
GLikely benign
MYO1A
Single nucleotide variant
(splice donor variant)
Autosomal dominant nonsyndromic hearing loss 48
GLikely benign
MYO1A, LOC126861538
(A79S)
Single nucleotide variant
(missense variant)
MYO1A-related condition
GBenign
MYO1A
(R628G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
MYO1A
(S910P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 48
GUncertain significance
MYO1A
(G662E)
Single nucleotide variant
(missense variant)
not specified
GBenign
MYO1A
(E385D)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 48
GUncertain significance
MYO1A
(V306M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LOC126861538, MYO1A
Duplication
(inframe_insertion)
Autosomal dominant nonsyndromic hearing loss 48
GUncertain significance
LOC126861538, MYO1A
(R93*)
Single nucleotide variant
(nonsense)
MYO1A-related condition
+2 more
GConflicting classifications of pathogenicity
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