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Items: 1 to 100 of 1225

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZBTB45, ZFP28
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064933, LOC130064934
+1093 more
Copy number gain
See cases
GPathogenic
MIR10394, MIR125A
+806 more
Copy number gain
See cases
GPathogenic
IZUMO2, KCNC3
+46 more
Duplication
Normal pregnancy
Gnot provided
IZUMO2, KCNC3
+31 more
Copy number gain
See cases
GUncertain significance
A1BG, A1BG-AS1
+782 more
Copy number gain
See cases
GPathogenic
LILRA4, LILRA5
+761 more
Copy number gain
See cases
GPathogenic
MYH14
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GBenign
MYH14
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
MYH14
(A2E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(A2V)
Single nucleotide variant
(missense variant)
Nonsyndromic Hearing Loss, Dominant
GUncertain significance
MYH14
(V4M)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(S7*)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 4A
GPathogenic
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
+2 more
GBenign
MYH14
Single nucleotide variant
(synonymous variant)
MYH14-related disorder
+2 more
GBenign/Likely benign
MYH14
(A13V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(R16G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(R16T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MYH14
(A23V)
Single nucleotide variant
(missense variant)
MYH14-related disorder
+1 more
GConflicting classifications of pathogenicity
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
(A24V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(P31S)
Single nucleotide variant
(missense variant)
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
GUncertain significance
MYH14
(P31T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MYH14
(R32C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MYH14
(R32H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
(G37A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(G39R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(P46A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH14
(Q47L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH14
(R53W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(R53P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(R53Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(R54H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(W57R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(E61Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(A69E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
(E77A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
Deletion
(inframe_deletion)
not provided
GUncertain significance
MYH14
(E79V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(E81D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH14
(A83V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH14
(R87T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(R88W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(R88Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GLikely benign
MYH14
(L89P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MYH14
(P92L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
(R93L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH14
(Q95H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(R98L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH14
(R98H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
(S120L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
(N124S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(R126Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(E127D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH14
(G132S)
Single nucleotide variant
(missense variant)
MYH14-related disorder
+3 more
GConflicting classifications of pathogenicity
MYH14
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH14
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH14
(T136M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYH14
(G139S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(V143A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(P147L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH14
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
MYH14
(M161T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(M161I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MYH14
(R163W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH14
(R163Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYH14
(G164A)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
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