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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEMA4A
(K186fs +3 more)
Deletion
(frameshift variant)
Retinitis pigmentosa 35
GUncertain significance
SEMA4A
(C100* +3 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 35
GUncertain significance
SEMA4A
(G32W)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GUncertain significance
SEMA4A
(S111N +1 more)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 10
+2 more
GUncertain significance
SEMA4A
(P426S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SEMA4A
(L174P +3 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 10
+3 more
GUncertain significance
SEMA4A
(A83P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
SEMA4A
(V132I +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GUncertain significance
SEMA4A
(P532L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SEMA4A
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GLikely benign
SEMA4A
(P393L +3 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 10
+2 more
GUncertain significance
SEMA4A
(D158G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
SEMA4A
(T29M)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 35
+3 more
GUncertain significance
SEMA4A
(R579W +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SEMA4A
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
SEMA4A
(E594fs +3 more)
Duplication
(frameshift variant)
Retinal dystrophy
+3 more
GUncertain significance
SEMA4A
(V494I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SEMA4A
(T236M +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SEMA4A
(T253I +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SEMA4A
(R557Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
SEMA4A
(A577V +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
SEMA4A
(G143S +1 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 35
+3 more
GUncertain significance
SEMA4A
(R494Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SEMA4A
(G484A +3 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 35
+3 more
GUncertain significance
SEMA4A
(M392L +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SEMA4A
(H429Q +3 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 10
+2 more
GUncertain significance
SEMA4A
(P315L +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SEMA4A
Single nucleotide variant
(3 prime UTR variant)
Retinitis Pigmentosa, Recessive
+4 more
GBenign/Likely benign
SEMA4A
(A751T +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SEMA4A
(R723C +3 more)
Single nucleotide variant
(missense variant)
Retinitis Pigmentosa, Recessive
+5 more
GBenign/Likely benign
SEMA4A
(R723S +3 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GUncertain significance
SEMA4A
(A446V +3 more)
Single nucleotide variant
(missense variant)
Retinitis Pigmentosa, Recessive
+4 more
GUncertain significance
SEMA4A
(T365I +3 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 35
+4 more
GUncertain significance
SEMA4A
(S165L +2 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis Pigmentosa, Recessive
+4 more
GUncertain significance
SEMA4A
(P682S +3 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GBenign/Likely benign
SEMA4A
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+6 more
GBenign
SEMA4A
(R510Q +3 more)
Single nucleotide variant
(missense variant)
Retinitis Pigmentosa, Recessive
+6 more
GBenign/Likely benign
SEMA4A
(D399V +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SEMA4A
(R375W +3 more)
Single nucleotide variant
(missense variant)
Retinitis Pigmentosa, Recessive
+4 more
GUncertain significance
SEMA4A
(R713Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
SEMA4A
(F350C +3 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 35
+1 more
GPathogenic
SEMA4A
(D345H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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