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Items: 1 to 100 of 1272

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHID1, CHRNA10
+917 more
Copy number gain
See cases
GPathogenic
OTOG
Single nucleotide variant
not provided
GBenign
OTOG
Indel
(5 prime UTR variant)
not specified
Gnot provided
OTOG
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OTOG
(A5T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(A5V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OTOG
(S6P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OTOG
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OTOG
(P17fs)
Deletion
(frameshift variant)
not provided
GPathogenic
OTOG
(P17L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(E24K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
OTOG
(L26Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
OTOG
(G32S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
OTOG
(R44G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OTOG
(R44Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
OTOG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
OTOG
(V49I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OTOG
(K50E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OTOG
(M52I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
OTOG
(A57T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OTOG
(A57S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOG
(A57V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
OTOG
Deletion
(splice donor variant +1 more)
not provided
GLikely pathogenic
OTOG
Single nucleotide variant
(intron variant)
not provided
GBenign
OTOG
(V36I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
OTOG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
OTOG
(Q50E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
OTOG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OTOG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OTOG
(A58V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(G70E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(Q72R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OTOG
Single nucleotide variant
(intron variant)
not provided
GBenign
OTOG
Deletion
(intron variant)
not provided
GLikely benign
OTOG
Deletion
(intron variant)
not provided
GLikely benign
OTOG
Deletion
(intron variant)
not provided
GLikely benign
OTOG
Deletion
(intron variant)
not provided
GLikely benign
OTOG
Deletion
(intron variant)
not provided
GBenign
OTOG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OTOG
Single nucleotide variant
(intron variant)
not provided
GBenign
OTOG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OTOG
(A74T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
OTOG
(V80M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(R100W +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
OTOG
(A95G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OTOG
(P108A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OTOG
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
OTOG
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
OTOG
Single nucleotide variant
(intron variant)
not specified
GLikely benign
OTOG
Single nucleotide variant
(intron variant)
not provided
GBenign
OTOG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OTOG
Single nucleotide variant
(intron variant)
not provided
GBenign
OTOG
Single nucleotide variant
(intron variant)
not provided
GBenign
OTOG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OTOG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
OTOG
(Y110* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GPathogenic
OTOG
(N104D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(N116S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OTOG
(H110Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(A124G +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOG
(R118C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(R130H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(N120D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(T134I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(P136L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOG
(Q127* +1 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
GPathogenic
OTOG
(V141M +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOG
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
OTOG
(A144V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OTOG
(G145S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
OTOG
(R153W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOG
(R141Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
OTOG
(Q145fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
OTOG
(G144R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
OTOG
(G153fs +1 more)
Deletion
(frameshift variant)
Rare genetic deafness
GLikely pathogenic
OTOG
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
OTOG
(L158I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OTOG
(T177N +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
OTOG
(V167fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
OTOG
(R181C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
OTOG
Deletion
(inframe_indel)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOG
(S188T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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