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Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(D13E +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(L16S +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
MYO7A
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
(E45* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MYO7A
(H133P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(I134T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
MYO7A
(S167T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
MYO7A-related condition
+5 more
GConflicting classifications of pathogenicity
MYO7A
(T193I +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+2 more
GUncertain significance
MYO7A
(I205T +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
MYO7A
(G214R +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+5 more
GPathogenic
MYO7A
(A226T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GConflicting classifications of pathogenicity
MYO7A
(R244H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
MYO7A
(K268R +1 more)
Single nucleotide variant
(missense variant)
MYO7A-related condition
+5 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(intron variant)
MYO7A-related condition
+2 more
GConflicting classifications of pathogenicity
MYO7A
(R302H +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely benign
MYO7A
(Y333* +1 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+2 more
GPathogenic
MYO7A
(R336H +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(P364Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO7A
(Y403C +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely pathogenic
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(R430C +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
(R669* +1 more)
Single nucleotide variant
(nonsense)
MYO7A-related condition
+5 more
GPathogenic/Likely pathogenic
MYO7A
(R669Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(V679I +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
MYO7A-related condition
+1 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(D746N +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
MYO7A
(L765M +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MYO7A
(C783Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(Q809H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R816H +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
(V843M +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
MYO7A
(R853H +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
MYO7A
(R858C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R873W +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+5 more
GConflicting classifications of pathogenicity
MYO7A
(R933H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MYO7A
(V943M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(Q962H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MYO7A
(T1013I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MYO7A
(H1029R +1 more)
Single nucleotide variant
(missense variant)
MYO7A-related condition
+5 more
GConflicting classifications of pathogenicity
MYO7A
(I1045T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GUncertain significance
MYO7A
(E1095K +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MYO7A
(S1135Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MYO7A
(G1159V +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+6 more
GPathogenic/Likely pathogenic
MYO7A
Deletion
Nonsyndromic genetic hearing loss
GBenign
MYO7A
Single nucleotide variant
(intron variant)
MYO7A-related condition
+1 more
GConflicting classifications of pathogenicity
MYO7A
(S1176N +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(V1199M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(intron variant)
not provided
+4 more
GUncertain significance
MYO7A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(S1356C +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MYO7A
(V1398I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R1408C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO7A
(L1409fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MYO7A
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
Indel
Rare genetic deafness
+1 more
GPathogenic/Likely pathogenic
MYO7A
(S1530L)
Single nucleotide variant
(intron variant +1 more)
not provided
+4 more
GBenign/Likely benign
MYO7A
(T1566M +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
MYO7A
(N1586S +2 more)
Single nucleotide variant
(missense variant)
MYO7A-related condition
+2 more
GConflicting classifications of pathogenicity
MYO7A
(R1602Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
(Q1658R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 2
+4 more
GConflicting classifications of pathogenicity
MYO7A
(S1666C +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(R1678Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(A1703V +2 more)
Single nucleotide variant
(missense variant)
MYO7A-related condition
+5 more
GConflicting classifications of pathogenicity
MYO7A
(Y1719C +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
+4 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 2
+4 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(synonymous variant)
MYO7A-related condition
+2 more
GConflicting classifications of pathogenicity
MYO7A
(R1743W +2 more)
Single nucleotide variant
(missense variant)
MYO7A-related condition
+5 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
MYO7A-related condition
+2 more
GConflicting classifications of pathogenicity
MYO7A
(I1775T +2 more)
Single nucleotide variant
(missense variant)
MYO7A-related condition
+2 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(R1832W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GUncertain significance
MYO7A
(H1863Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
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