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Items: 1 to 100 of 266

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
TRDC, TRDD1
+859 more
Copy number gain
See cases
GPathogenic
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
LOC130055370, LOC130055371
+840 more
Copy number loss
See cases
GPathogenic
ADCY4, AKAP6
+399 more
Copy number loss
See cases
GPathogenic
AKAP6, AP4S1
+73 more
Copy number loss
See cases
GPathogenic
AKAP6, AP4S1
+179 more
Copy number loss
See cases
GPathogenic
INSM2, KLHL28
+237 more
Copy number gain
See cases
GPathogenic
AKAP6, AP4S1
+225 more
Copy number loss
See cases
GPathogenic
COCH, LOC130055442
Single nucleotide variant
Nonsyndromic Hearing Loss, Dominant
GUncertain significance
COCH
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
COCH
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
COCH
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
COCH
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH
(A8T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COCH
(L9V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
COCH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COCH
(G12D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COCH
(E25Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COCH
(R49Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
COCH
(A57V)
Single nucleotide variant
(missense variant +1 more)
COCH-related condition
GBenign
COCH
(L60R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
COCH
Single nucleotide variant
(synonymous variant +1 more)
COCH-related condition
GLikely benign
COCH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
COCH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GBenign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GBenign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GBenign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COCH, LOC100506071
(T36I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(G103D +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(D105N +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COCH, LOC100506071
(R107S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(E109Q +1 more)
Single nucleotide variant
(missense variant)
COCH-related condition
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
COCH, LOC100506071
(C115Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
(P51S +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
LOC100506071, COCH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
(L121P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COCH, LOC100506071
(F59L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC100506071, COCH
(I130V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
(V66G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GPathogenic
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COCH, LOC100506071
(A68V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COCH, LOC100506071
(S136L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 9
+1 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not specified
GLikely benign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC100506071, COCH
Deletion
(intron variant)
not provided
GLikely benign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GBenign
COCH, LOC100506071
Deletion
(intron variant)
not provided
GBenign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GBenign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC100506071, COCH
Single nucleotide variant
(intron variant)
not provided
GBenign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COCH, LOC100506071
(G152W +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
COCH, LOC100506071
(G87A +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
GLikely pathogenic
COCH, LOC100506071
(G88V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COCH, LOC100506071
(G88E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
(P154H +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(R156G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
(R91* +1 more)
Single nucleotide variant
(nonsense)
Hearing loss, autosomal recessive 110
+2 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
(R91Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
(S159R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC100506071, COCH
(R98* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
COCH, LOC100506071
(R98Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COCH, LOC100506071
(Y166N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(D170G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
(N172S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
COCH, LOC100506071
(I109N +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COCH, LOC100506071
(Q110R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(S111Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COCH, LOC100506071
(L179F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
(L114P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GPathogenic
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC100506071, COCH
(W117R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GPathogenic
COCH, LOC100506071
(A119T +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GUncertain significance
COCH, LOC100506071
(F121S +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COCH, LOC100506071
Deletion
(inframe_deletion)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GBenign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COCH, LOC100506071
(T130I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
(G135R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COCH, LOC100506071
(A137E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
Nonsyndromic genetic hearing loss
GBenign
COCH, LOC100506071
(T145fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
COCH, LOC100506071
(T145A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GBenign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GBenign
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