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Items: 1 to 100 of 1527

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998995, LOC129998996
+2212 more
Copy number gain
See cases
GPathogenic
ALKBH4, ARMC10
+292 more
Copy number loss
See cases
GPathogenic
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
ATXN7L1, BCAP29
+104 more
Copy number loss
See cases
GUncertain significance
DUS4L, DUS4L-BCAP29
+92 more
Copy number loss
See cases
GPathogenic
COG5, SLC26A4
Single nucleotide variant
(intron variant)
SLC26A4-related condition
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
not specified
+2 more
GUncertain significance
SLC26A4-AS1, SLC26A4
Single nucleotide variant
Pendred syndrome
+1 more
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
not specified
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
not specified
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
Pendred syndrome
+2 more
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
Pendred syndrome
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
not specified
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
not specified
+3 more
GBenign/Likely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
not specified
+2 more
GConflicting classifications of pathogenicity
SLC26A4, SLC26A4-AS1
Single nucleotide variant
not provided
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
Pendred syndrome
+1 more
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(intron variant)
Rare genetic deafness
+2 more
GConflicting classifications of pathogenicity
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Duplication
(intron variant)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
SLC26A4-related condition
+4 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
(M1R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
(M1T)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+5 more
GPathogenic
SLC26A4, SLC26A4-AS1
(M1I)
Single nucleotide variant
(non-coding transcript variant +2 more)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4, SLC26A4-AS1
(M1I)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
SLC26A4, SLC26A4-AS1
(G6V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(E9K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SLC26A4, SLC26A4-AS1
(E9*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(P10T)
Single nucleotide variant
SLC26A4-related condition
+3 more
GConflicting classifications of pathogenicity
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GLikely benign
SLC26A4, SLC26A4-AS1
(E15fs)
Deletion
(non-coding transcript variant +1 more)
Hearing loss, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(E15*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Deletion
(non-coding transcript variant +1 more)
Pendred syndrome
GUncertain significance
SLC26A4, SLC26A4-AS1
(S19fs)
Deletion
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(M21V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
SLC26A4, SLC26A4-AS1
(V22A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(S23*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(R24L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hearing loss, autosomal recessive
GLikely pathogenic
SLC26A4, SLC26A4-AS1
(P25R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SLC26A4, SLC26A4-AS1
(V26fs)
Duplication
(non-coding transcript variant +1 more)
not provided
GPathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
SLC26A4, SLC26A4-AS1
(Y27fs)
Deletion
(non-coding transcript variant +1 more)
Pendred syndrome
GLikely pathogenic
SLC26A4, SLC26A4-AS1
(Y27H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(S28G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4, SLC26A4-AS1
(S28R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
SLC26A4, SLC26A4-AS1
(S28R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
(E29*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
(E29Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Rare genetic deafness
+4 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
(E29G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC26A4, SLC26A4-AS1
(E29D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4, SLC26A4-AS1
(E29D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(Q34fs)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
SLC26A4, SLC26A4-AS1
(Q35fs)
Indel
(non-coding transcript variant +1 more)
Pendred syndrome
GLikely pathogenic
SLC26A4, SLC26A4-AS1
(Q35L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(H36P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4, SLC26A4-AS1
(E37*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(R43L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC26A4, SLC26A4-AS1
(R43H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GUncertain significance
SLC26A4, SLC26A4-AS1
(K44fs)
Indel
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
SLC26A4-related condition
+1 more
GLikely benign
SLC26A4, SLC26A4-AS1
(S49fs)
Microsatellite
(non-coding transcript variant +1 more)
not provided
GPathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(E48*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC26A4-AS1, SLC26A4
(S49R)
Single nucleotide variant
(missense variant +1 more)
Pendred syndrome
GLikely benign
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC26A4, SLC26A4-AS1
(L50P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pendred syndrome
GUncertain significance
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