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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HARS1
(E468K +6 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 3B
+2 more
GConflicting classifications of pathogenicity
HARS1
(T406N +6 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 3B
+2 more
GUncertain significance
HARS1
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 3B
+1 more
GUncertain significance
HARS1
(V263L +6 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HARS1
(S356N +6 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
HARS1
(I267T +6 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HARS1
(R232C +6 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 3B
+2 more
GConflicting classifications of pathogenicity
HARS1
(K116N +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HARS1
(R57H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
HARS1
(Q23P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HARS1, LOC129994848
Single nucleotide variant
(intron variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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