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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A4
(L236P)
Single nucleotide variant
(missense variant)
SLC26A4-related condition
+6 more
GPathogenic/Likely pathogenic
SLC26A4
(V239D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC26A4
Single nucleotide variant
(splice acceptor variant)
Pendred syndrome
GPathogenic
SLC26A4
Single nucleotide variant
(splice donor variant)
Rare genetic deafness
+4 more
GPathogenic
SLC26A4
(E384G)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+4 more
GPathogenic/Likely pathogenic
SLC26A4
(T416P)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+4 more
GConflicting classifications of pathogenicity
SLC26A4
(Q514K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
LOC123956210, SLC26A4
(H723R)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+4 more
GPathogenic/Likely pathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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