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Links from MedGen

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEAF1
(E46Q)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
GUncertain significance
DEAF1, LOC126861109
(Q248* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability-epilepsy-extrapyramidal syndrome
GLikely pathogenic
DEAF1
(R226Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
GUncertain significance
DEAF1
(L272* +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
GPathogenic
DEAF1
(A27V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 24
+2 more
GUncertain significance
DEAF1
(F240S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GPathogenic
DEAF1
(V25G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
DEAF1
(G35D)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GUncertain significance
DEAF1
Deletion
(inframe_deletion +1 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GUncertain significance
DEAF1
Deletion
(inframe_deletion +1 more)
not specified
+3 more
GUncertain significance
DEAF1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
GUncertain significance
DEAF1
Deletion
Intellectual disability-epilepsy-extrapyramidal syndrome
GUncertain significance
DEAF1
(R109* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability-epilepsy-extrapyramidal syndrome
GLikely pathogenic
DEAF1
Single nucleotide variant
(intron variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GBenign
DEAF1
Single nucleotide variant
(intron variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GBenign
DEAF1
Single nucleotide variant
(intron variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GBenign
DEAF1
Single nucleotide variant
(intron variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GBenign
DEAF1, LOC126861109
Single nucleotide variant
(intron variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GBenign
DEAF1, LOC126861109
Single nucleotide variant
(intron variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GBenign
LOC126861109, DEAF1
Single nucleotide variant
(intron variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GBenign
DEAF1
Single nucleotide variant
(intron variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GBenign
DEAF1
Microsatellite
(intron variant +1 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
GLikely pathogenic
DEAF1
(T526I +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
GUncertain significance
DEAF1
(R224Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DEAF1
(C540fs +2 more)
Duplication
(frameshift variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
GPathogenic
DEAF1
(D280fs +2 more)
Duplication
(frameshift variant)
not provided
GPathogenic
DEAF1
(G396fs +2 more)
Deletion
(frameshift variant)
Intellectual disability-epilepsy-extrapyramidal syndrome
GPathogenic
DEAF1
(K191*)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
GPathogenic
DEAF1
(K216E)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
+2 more
GConflicting classifications of pathogenicity
DEAF1
(G541S +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 24
+2 more
GUncertain significance
DEAF1
(G396S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DEAF1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
DEAF1
(V19A)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
DEAF1
(W234*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
DEAF1
(E239G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability, autosomal dominant 24
+1 more
GConflicting classifications of pathogenicity
DEAF1
(G212S)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 24
+2 more
GPathogenic/Likely pathogenic
DEAF1
(G223S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GConflicting classifications of pathogenicity
DEAF1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 24
+1 more
GPathogenic
DEAF1
(R226W)
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
+2 more
GPathogenic/Likely pathogenic
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