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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRIT3
(R111G)
Single nucleotide variant
(missense variant)
Congenital Stationary Night Blindness, Recessive
+2 more
GBenign/Likely benign
LRIT3
(D127Y)
Single nucleotide variant
(missense variant)
LRIT3-related condition
+2 more
GConflicting classifications of pathogenicity
LRIT3
(S175N)
Single nucleotide variant
(missense variant)
Congenital Stationary Night Blindness, Recessive
+3 more
GBenign
LRIT3
(L189F)
Single nucleotide variant
(missense variant)
Congenital Stationary Night Blindness, Recessive
+2 more
GBenign/Likely benign
LRIT3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LRIT3
(R237H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
LRIT3
(M336L)
Single nucleotide variant
(missense variant)
Congenital Stationary Night Blindness, Recessive
+3 more
GBenign
LRIT3
(T349I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRIT3
Single nucleotide variant
(synonymous variant)
LRIT3-related condition
+3 more
GBenign/Likely benign
LRIT3
(S396del)
Microsatellite
(inframe_deletion)
Congenital Stationary Night Blindness, Recessive
+2 more
GBenign/Likely benign
LRIT3
(T481M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
LRIT3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LRIT3
Single nucleotide variant
(synonymous variant)
Congenital Stationary Night Blindness, Recessive
+2 more
GBenign/Likely benign
LRIT3
(I541V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
LRIT3
(W581*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LRIT3
(L585del)
Deletion
(inframe_deletion)
Congenital Stationary Night Blindness, Recessive
+1 more
GConflicting classifications of pathogenicity
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