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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSG
Deletion
(splice acceptor variant +1 more)
Usher syndrome, type 4
GPathogenic
ARSG
(Y196* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome, type 4
GPathogenic
ARSG
(L92P)
Single nucleotide variant
(missense variant)
Usher syndrome, type 4
GPathogenic
ARSG
Single nucleotide variant
(splice donor variant)
Usher syndrome, type 4
GPathogenic
ARSG, LOC130061524
(K206fs +1 more)
Deletion
(frameshift variant)
Usher syndrome, type 4
GUncertain significance
ARSG
(R341W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARSG
Single nucleotide variant
(splice donor variant)
Usher syndrome, type 4
GLikely pathogenic
ARSG
(W258R +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome, type 4
+1 more
GBenign
ARSG
(T220S +1 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome, type 4
+1 more
GBenign
ARSG
Single nucleotide variant
(synonymous variant)
Usher syndrome, type 4
+1 more
GBenign
ARSG
(R408C +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome, type 4
GPathogenic
ARSG
(D44N)
Single nucleotide variant
(missense variant)
Usher syndrome, type 4
+1 more
GConflicting classifications of pathogenicity
ARSG
(G113D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ARSG, PRKAR1A
(S442fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
ARSG
(S85P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARSG
Single nucleotide variant
(intron variant)
ARSG-related condition
+2 more
GBenign/Likely benign
ARSG
(D45Y)
Single nucleotide variant
(missense variant)
Usher syndrome, type 4
+1 more
GPathogenic
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