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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEMA4A
Single nucleotide variant
(synonymous variant +2 more)
Retinitis Pigmentosa, Recessive
+4 more
GConflicting classifications of pathogenicity
SEMA4A
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GUncertain significance
SEMA4A
(Q175R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEMA4A
(F245L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEMA4A
Single nucleotide variant
(synonymous variant)
Retinitis Pigmentosa, Recessive
+3 more
GConflicting classifications of pathogenicity
SEMA4A
(R375W +3 more)
Single nucleotide variant
(missense variant)
Retinitis Pigmentosa, Recessive
+4 more
GUncertain significance
SEMA4A
(M392L +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SEMA4A
(D399V +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SEMA4A
(M434T +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SEMA4A
(G484A +3 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 35
+3 more
GUncertain significance
SEMA4A
(R510Q +3 more)
Single nucleotide variant
(missense variant)
Retinitis Pigmentosa, Recessive
+6 more
GBenign/Likely benign
SEMA4A
(H582Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEMA4A
(P682S +3 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GBenign/Likely benign
SEMA4A
(R713Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
SEMA4A
(R723C +3 more)
Single nucleotide variant
(missense variant)
Retinitis Pigmentosa, Recessive
+5 more
GBenign/Likely benign
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