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Items: 1 to 100 of 478

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
CT70, CTNNAL1
+509 more
Copy number loss
See cases
GPathogenic
PALM2AKAP2, PAPPA
+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 disorder
GLikely benign
TNC
(R2016C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(E1994G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
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
(K1914T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TNC
(H2079N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNC
(R2077Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
TNC
(R2077W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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)
Autosomal dominant nonsyndromic hearing loss 56
+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 disorder
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
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TNC
(E2008Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign/Likely benign
TNC
(G1996A)
Single nucleotide variant
(missense variant)
not provided
+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
GUncertain significance
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
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
GUncertain significance
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)
not provided
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
(synonymous variant)
TNC-related disorder
GLikely benign
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
Gno classifications from unflagged records
TNC
(G1602D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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