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Items: 1 to 100 of 802

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRB3, ADGRB3-DT
+310 more
Copy number loss
See cases
GPathogenic
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
LOC123775375, LOC129996733
+7 more
Copy number gain
See cases
GUncertain significance
IMPG1, LOC129996735
+7 more
Copy number gain
See cases
GUncertain significance
LOC129996737, MYO6
Single nucleotide variant
Hearing loss, autosomal recessive
+1 more
GUncertain significance
MYO6
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO6
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 37
+1 more
GUncertain significance
MYO6
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO6
Single nucleotide variant
(intron variant)
not provided
GBenign
IMPG1, LOC129996739
+2 more
Copy number gain
See cases
GLikely benign
MYO6
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO6
Duplication
(intron variant)
not provided
GBenign
MYO6
Duplication
(intron variant)
not provided
GBenign
MYO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO6
Duplication
(intron variant)
not provided
GLikely benign
MYO6
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO6
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO6
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 37
+1 more
GUncertain significance
MYO6
Microsatellite
(5 prime UTR variant +1 more)
not specified
Gnot provided
MYO6
(E2K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
MYO6
(A9V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
MYO6
(T13fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 37
GPathogenic
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO6
(M18V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
MYO6
(I21V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(I21F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(D23N)
Single nucleotide variant
(missense variant +1 more)
MYO6-related disorder
GUncertain significance
MYO6
(D27fs)
Deletion
(frameshift variant +1 more)
Nonsyndromic genetic hearing loss
GLikely pathogenic
MYO6
(I31V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(I31T)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GLikely benign
MYO6
(N35Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO6
Microsatellite
(intron variant)
not provided
GBenign
MYO6
(Q47R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(P50A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(D54E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(S55G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(K56E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(E60Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MYO6
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO6
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO6
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MYO6
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant nonsyndromic hearing loss 22
GLikely pathogenic
MYO6
(C63W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MYO6
(S64L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(L73V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
MYO6
(L74P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO6
(R80*)
Single nucleotide variant
(nonsense +1 more)
Nonsyndromic genetic hearing loss
GPathogenic
MYO6
(K83E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(I86fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
MYO6
(Y87fs)
Indel
(frameshift variant +1 more)
Rare genetic deafness
GLikely pathogenic
MYO6
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO6
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO6
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO6
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO6
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 22
+2 more
GConflicting classifications of pathogenicity
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
MYO6
(A91T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MYO6
(N92S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(A96T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(A96V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(N98D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO6
(Y115fs)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
MYO6
(K118E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(L120P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
Deletion
(splice donor variant)
not provided
GUncertain significance
MYO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO6
(A131V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive nonsyndromic hearing loss 37
+1 more
GUncertain significance
MYO6
(M138V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive nonsyndromic hearing loss 37
+1 more
GUncertain significance
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO6
(S153*)
Single nucleotide variant
(nonsense +1 more)
Rare genetic deafness
GPathogenic
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
MYO6
(G156D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(K157R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYO6
(T158R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(E159K)
Single nucleotide variant
(missense variant +1 more)
Nonsyndromic genetic hearing loss
GBenign
MYO6
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO6
(D179Y)
Single nucleotide variant
(missense variant +1 more)
Rare genetic deafness
GLikely pathogenic
MYO6
(D179G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(D180A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(R181K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO6
(V183D)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 22
GUncertain significance
MYO6
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO6
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
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