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Items: 1 to 100 of 436

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860768, LOC126860769
+3785 more
Copy number gain
See cases
GPathogenic
LOC124310660, LOC124310661
+3784 more
Copy number gain
See cases
GPathogenic
LOC111413024, LOC111413033
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC116216098, LOC116216099
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LCN15, LCN2
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860765, LOC126860766
+3785 more
Copy number gain
See cases
GPathogenic
CT70, CTNNAL1
+509 more
Copy number loss
See cases
GPathogenic
TMEM268, TNC
+377 more
Copy number loss
See cases
GPathogenic
DELEC1, LOC101928748
+7 more
Copy number loss
See cases
GUncertain significance
TNC
(A2201S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(R2016H +1 more)
Single nucleotide variant
(missense variant)
TNC-related condition
GLikely benign
TNC
(R2016C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(E1994G +1 more)
Single nucleotide variant
(missense variant)
TNC-related condition
+1 more
GUncertain significance
TNC
(V2167I)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign/Likely benign
TNC
Deletion
(intron variant)
not provided
GBenign
TNC
Microsatellite
(intron variant)
not provided
GLikely benign
TNC
Deletion
(intron variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
(Q2165R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TNC
(N2161S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TNC
(H2079N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(R2077Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
TNC
(R1891W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(E2071K)
Single nucleotide variant
(missense variant)
Hearing impairment
GUncertain significance
TNC
(K1881E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNC
(N2060I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(D2059E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
(R2050C)
Single nucleotide variant
(missense variant)
Hearing impairment
GLikely benign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
(L1845M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TNC
Single nucleotide variant
(intron variant)
TNC-related condition
GLikely benign
TNC
Deletion
(intron variant)
not provided
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNC
(E2008Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
TNC-related condition
+2 more
GBenign/Likely benign
TNC
(G1996A)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GUncertain significance
TNC
(T1811M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
(T1972I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(T1787I +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TNC
(T1767I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(T1767A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNC
(T1937I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
Duplication
(intron variant)
not provided
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
(V1738F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
(T1915A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(R1729Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TNC
(R1729W +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TNC
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TNC
(P1909H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(R1726Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(R1726* +1 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
TNC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TNC
(V1716I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TNC
(R1891K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126860740, TNC
(K1700T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126860740, TNC
(G1690A +1 more)
Single nucleotide variant
(missense variant)
TNC-related condition
+1 more
GLikely benign
LOC126860740, TNC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126860740, TNC
(K1871E)
Single nucleotide variant
(missense variant)
Hearing impairment
GUncertain significance
LOC126860740, TNC
(T1844M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC126860740, TNC
(R1843H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126860740, TNC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126860740, TNC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126860740, TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126860740, TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNC
(E1654K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TNC
(D1645Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
GBenign
TNC
Microsatellite
(intron variant)
not provided
GLikely benign
TNC
Microsatellite
(intron variant)
not provided
GBenign
TNC
Microsatellite
(intron variant)
not provided
GBenign
TNC
Microsatellite
(intron variant)
not provided
GLikely benign
TNC
(T1796S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GPathogenic
TNC
(G1602D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(M1600T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(M1782V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(A1781T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
(V1773M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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