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Links from MedGen

Items: 1 to 100 of 132

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEPTIN9
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic neuralgia
GLikely benign
SEPTIN9
(N102S +3 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
(K138R +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(intron variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
(R156C +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic neuralgia
+2 more
GUncertain significance
SEPTIN9
(E560K +6 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
(E489K +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic neuralgia
+1 more
GUncertain significance
SEPTIN9
Single nucleotide variant
(synonymous variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
(T31N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SEPTIN9
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SEPTIN9
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
(V139M +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic neuralgia
+2 more
GConflicting classifications of pathogenicity
SEPTIN9
(R249W +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
(R336W +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SEPTIN9
Single nucleotide variant
(synonymous variant)
Amyotrophic neuralgia
+1 more
GBenign/Likely benign
SEPTIN9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SEPTIN9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SEPTIN9
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SEPTIN9
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
(C6Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SEPTIN9
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SEPTIN9
(Q99P +3 more)
Indel
(missense variant +1 more)
Amyotrophic neuralgia
+2 more
GConflicting classifications of pathogenicity
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GConflicting classifications of pathogenicity
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
SEPTIN9
Duplication
(3 prime UTR variant)
not provided
+2 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GUncertain significance
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic neuralgia
GBenign
SEPTIN9
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(synonymous variant)
Amyotrophic neuralgia
+1 more
GBenign/Likely benign
SEPTIN9
(M558V +6 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
SEPTIN9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SEPTIN9
Single nucleotide variant
(intron variant)
Amyotrophic neuralgia
+2 more
GBenign
SEPTIN9
Single nucleotide variant
(intron variant)
Amyotrophic neuralgia
+1 more
GBenign/Likely benign
SEPTIN9
Single nucleotide variant
(intron variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
SEPTIN9
Single nucleotide variant
(synonymous variant)
Amyotrophic neuralgia
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
SEPTIN9
Single nucleotide variant
(synonymous variant)
Amyotrophic neuralgia
+1 more
GConflicting classifications of pathogenicity
SEPTIN9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SEPTIN9
Single nucleotide variant
(intron variant)
Amyotrophic neuralgia
+1 more
GBenign/Likely benign
SEPTIN9
Single nucleotide variant
(intron variant)
Amyotrophic neuralgia
+1 more
GBenign/Likely benign
SEPTIN9
Single nucleotide variant
(intron variant)
Amyotrophic neuralgia
+1 more
GBenign/Likely benign
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