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Items: 1 to 100 of 4274

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
CHORDC1, GDPD4
+474 more
Copy number loss
See cases
GPathogenic
CAPN5, GDPD4
+2 more
Copy number loss
See cases
GUncertain significance
MYO7A
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 1
+2 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(5 prime UTR variant)
Nonsyndromic Hearing Loss, Dominant
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 1
+2 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
(M1V)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome
+3 more
GPathogenic/Likely pathogenic
MYO7A
(M1I)
Single nucleotide variant
(missense variant +2 more)
Meniere disease
+3 more
GPathogenic/Likely pathogenic
MYO7A
(Q5*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
MYO7A
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
MYO7A
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
MYO7A
Single nucleotide variant
(splice donor variant)
Usher syndrome type 1
+2 more
GLikely pathogenic
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Microsatellite
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Deletion
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 2
+1 more
GPathogenic
MYO7A
Duplication
Usher syndrome
GLikely pathogenic
MYO7A
Single nucleotide variant
(splice acceptor variant)
Rare genetic deafness
+3 more
GLikely pathogenic
MYO7A
(G7R)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
MYO7A
(G7R)
Single nucleotide variant
(missense variant +1 more)
Nonsyndromic genetic hearing loss
GUncertain significance
MYO7A
(G7V)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
MYO7A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO7A
(V10A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO7A
(W11*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(W11*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(M12T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO7A
(D2H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(D13E +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(Q18fs +1 more)
Duplication
(frameshift variant)
Usher syndrome
GPathogenic
MYO7A
(R15I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(L5S +1 more)
Indel
(missense variant)
not provided
GLikely benign
MYO7A
(L16S +1 more)
Inversion
(missense variant)
not provided
GLikely benign
MYO7A
(L16* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 2
+2 more
GPathogenic/Likely pathogenic
MYO7A
(L16S +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
MYO7A
(Q18* +1 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+4 more
GPathogenic
MYO7A
(Q18H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(E19* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(D10N +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(V11M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO7A
(V11L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(V11A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Duplication
(nonsense +1 more)
not provided
GPathogenic
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
MYO7A
(A15fs +1 more)
Deletion
(frameshift variant)
Ear malformation
GLikely pathogenic
MYO7A
(G25R +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+5 more
GPathogenic/Likely pathogenic
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(A15V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(A26E +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+1 more
GPathogenic
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(V16E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(V17fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
MYO7A
(C31* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
+3 more
GPathogenic
MYO7A
(D21N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(G34fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(Q24* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(Q26* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
+1 more
GPathogenic/Likely pathogenic
MYO7A
(Q26H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Deletion
(splice donor variant)
Usher syndrome type 1
+1 more
GLikely pathogenic
MYO7A
(D29G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(D30Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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