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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOF
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
OTOF
(R1939W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
LOC112840921, OTOF
(D1695Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC112840921, OTOF
(T1688M +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOF
(I1649T +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
OTOF
(P1646S +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
OTOF
(R1641H +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
OTOF
(P1632T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOF
(R1607Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
OTOF-related condition
+3 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
OTOF
(C1251G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
OTOF
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OTOF
(R1232W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOF
(R1227Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OTOF
(E1093K +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
OTOF
(R1068H +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOF
(V950I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
+2 more
GConflicting classifications of pathogenicity
OTOF
(R897Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
OTOF
(R859C +2 more)
Single nucleotide variant
(missense variant)
Nonsyndromic Hearing Loss, Recessive
+1 more
GUncertain significance
OTOF
(R822W +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
OTOF
(R792Q +2 more)
Single nucleotide variant
(missense variant)
OTOF-related condition
+3 more
GConflicting classifications of pathogenicity
OTOF
(R787C +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
LOC129933334, OTOF
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant +1 more)
OTOF-related condition
+2 more
GBenign/Likely benign
OTOF
(I23S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign/Likely benign
OTOF
(L22P)
Single nucleotide variant
(missense variant +1 more)
OTOF-related condition
+2 more
GConflicting classifications of pathogenicity
OTOF
(R708Q)
Single nucleotide variant
(missense variant)
OTOF-related condition
+3 more
GConflicting classifications of pathogenicity
OTOF
Duplication
(intron variant)
not provided
GConflicting classifications of pathogenicity
OTOF
(R544C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
+3 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
OTOF-related condition
+2 more
GConflicting classifications of pathogenicity
OTOF
(L491F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOF
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LOC129933336, OTOF
(R193I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
OTOF
(T149M)
Single nucleotide variant
(missense variant)
OTOF-related condition
+3 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
OTOF
(R82H)
Single nucleotide variant
(missense variant)
OTOF-related condition
+4 more
GConflicting classifications of pathogenicity
OTOF
(N75S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
OTOF
(A53V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
OTOF
(P51L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
(R49W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
OTOF
Single nucleotide variant
(synonymous variant)
OTOF-related condition
+3 more
GConflicting classifications of pathogenicity
OTOF
(R14W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
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