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Items: 1 to 100 of 270

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ABCD4, ACOT1
+503 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+299 more
Copy number loss
See cases
GLikely pathogenic
ESRRB, EVL
+1421 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+227 more
Copy number loss
See cases
GPathogenic
ACYP1, BATF
+71 more
Copy number loss
See cases
GUncertain significance
ADCK1, AHSA1
+155 more
Copy number loss
See cases
GPathogenic
ANGEL1, ESRRB
+16 more
Copy number gain
See cases
GLikely benign
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130056147, LOC130056148
+1 more
Deletion
Rare genetic deafness
GLikely pathogenic
ESRRB
(M1I +1 more)
Single nucleotide variant
(missense variant +1 more)
Premature ovarian insufficiency
GUncertain significance
ESRRB
(D4E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESRRB
(R6G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESRRB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ESRRB
(A62T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ESRRB
(G43S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ESRRB
(A48V +1 more)
Single nucleotide variant
(missense variant)
ESRRB-related condition
+3 more
GConflicting classifications of pathogenicity
ESRRB
(A53V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESRRB
(G76C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ESRRB
(G55S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(L56V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ESRRB
(L56M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESRRB
(G66E +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
+1 more
GUncertain significance
ESRRB
(C77Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ESRRB
(E77K +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(A80V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESRRB
(G103R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ESRRB
(Y114H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESRRB
(V126L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ESRRB
(A110V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GPathogenic
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESRRB
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ESRRB
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
ESRRB
Single nucleotide variant
(intron variant)
not provided
GBenign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GBenign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GBenign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GBenign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GBenign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GBenign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GBenign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GBenign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESRRB
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(P161L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ESRRB
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ESRRB
(C150* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ESRRB
(R152C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESRRB
(A157V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESRRB
(C158Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESRRB
(R159C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ESRRB
(R159H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ESRRB
(G167R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GPathogenic
ESRRB
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 35
+1 more
GConflicting classifications of pathogenicity
ESRRB
Single nucleotide variant
(intron variant)
not provided
GBenign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESRRB
Duplication
(intron variant)
not provided
GBenign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ESRRB
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(R174C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GLikely pathogenic
ESRRB
(R179C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESRRB
(R179L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESRRB
(R200H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESRRB
(R182H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GPathogenic
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESRRB
(R187Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ESRRB
(R209W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ESRRB
(R188Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESRRB
(L199S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESRRB
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ESRRB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESRRB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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