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Items: 1 to 100 of 273

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121466733, LOC121468000
+2048 more
Copy number loss
See cases
GPathogenic
LOC130010147, LOC130010148
+2049 more
Copy number gain
See cases
GPathogenic
LOC130009360, LOC130009361
+2047 more
Copy number gain
See cases
GPathogenic
PDS5B, PDX1
+566 more
Copy number gain
See cases
GPathogenic
LOC130009909, LOC130009910
+2044 more
Copy number gain
See cases
GPathogenic
LINC00333, LINC00343
+2045 more
Copy number gain
See cases
GPathogenic
CRYL1, EEF1AKMT1
+116 more
Copy number gain
See cases
GPathogenic
ALOX5AP, AMER2
+488 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2040 more
Copy number gain
See cases
GPathogenic
USPL1, WASF3
+415 more
Copy number gain
See cases
GPathogenic
ATP12A, C1QTNF9
+181 more
Copy number loss
See cases
GPathogenic
LOC121838573, LOC121838574
+2028 more
Copy number gain
See cases
GPathogenic
LOC130009528, LOC130009529
+620 more
Copy number gain
See cases
GPathogenic
URAD, USP12
+2024 more
Copy number gain
See cases
GPathogenic
LINC00462, LINC00463
+2021 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
CRYL1, EEF1AKMT1
+84 more
Copy number loss
See cases
GUncertain significance
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
GJA3, GJB2
+21 more
Copy number gain
See cases
GUncertain significance
CRYL1, EEF1AKMT1
+79 more
Copy number loss
See cases
GPathogenic
SAP18, SKA3
+75 more
Copy number loss
See cases
GPathogenic
CRYL1, EEF1AKMT1
+32 more
Duplication
Autosomal recessive nonsyndromic hearing loss 1B
+3 more
GUncertain significance
CRYL1, GJB2
+19 more
Copy number loss
See cases
GUncertain significance
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GLikely benign
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GLikely benign
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GBenign
GJB6
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GJB6
Duplication
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 1B
+5 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
(S261G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+4 more
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB6
(I256V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB6
(S251R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB6
(I248V)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
(E246K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB6
(E243fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1B
+3 more
GLikely benign
GJB6
(S239N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB6
(H234R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB6
(P232H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GJB6
(N230fs)
Duplication
(frameshift variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GJB6
(N230Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB6
(T227M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+4 more
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1B
+4 more
GConflicting classifications of pathogenicity
GJB6
(K223T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
CRYL1, GJB6
+14 more
Deletion
Autosomal recessive nonsyndromic hearing loss 1B
GPathogenic
CRYL1, GJB6
+14 more
Copy number loss
See cases
Gconflicting data from submitters
GJB6
(C211G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+4 more
GUncertain significance
GJB6
(V207A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB6
(V207M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+4 more
GUncertain significance
GJB6
(N206T)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
GJB6
(M203L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB6
(M203V)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+5 more
GBenign/Likely benign
GJB6
(I201T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB6
(S199T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1A
+4 more
GLikely benign
GJB6
(A198E)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+3 more
GUncertain significance
GJB6
(A198V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB6
(S197Y)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
GJB6
(M195I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB6
(V190M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB6
(V190L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB6
(L177V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB6
(P173L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
GJB6
(D172E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GJB6
(L163fs)
Deletion
(frameshift variant)
Nonsyndromic Deafness
GLikely pathogenic
GJB6
Single nucleotide variant
(synonymous variant)
Hidrotic ectodermal dysplasia syndrome
+4 more
GBenign/Likely benign
GJB6
(N159S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+6 more
GBenign/Likely benign
GJB6
(F156V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB6
(F154I)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
GJB6
(V153G)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
+3 more
GUncertain significance
GJB6
(V153A)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
CRYL1, GJB2
+15 more
Deletion
Autosomal recessive nonsyndromic hearing loss 1A
+2 more
GPathogenic
GJB6
(Y136fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
GJB6
(R143Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
GJB6
(R143*)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB6
Single nucleotide variant
(synonymous variant)
GJB6-related disorder
+6 more
GConflicting classifications of pathogenicity
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 3B
+5 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
(R127Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
GJB6
(V126fs)
Deletion
(frameshift variant)
not specified
GUncertain significance
GJB6
(Q124R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GJB6
(D120N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+4 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GLikely benign
GJB6
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GJB6
(I118V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB6
(D117H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB6
(N113K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+5 more
GBenign/Likely benign
GJB6
(N113S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
GJB6
(G109E)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+4 more
GUncertain significance
GJB6
(R108Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GJB6
(R108*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GConflicting classifications of pathogenicity
GJB6
(R107K)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB6
(R104H)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
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