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Items: 1 to 100 of 404

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
EDN3, EEF1A2
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066240, LOC130066241
+553 more
Copy number gain
See cases
GLikely pathogenic
LOC121627913, LOC121853014
+175 more
Copy number gain
See cases
GLikely pathogenic
ABHD16B, ADRM1
+491 more
Copy number gain
See cases
GPathogenic
LOC130066376, LOC130066377
+464 more
Copy number gain
See cases
GPathogenic
VAPB, LOC130066253
Single nucleotide variant
not provided
GBenign
LOC130066253, VAPB
Single nucleotide variant
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
LOC130066253, VAPB
Single nucleotide variant
Amyotrophic lateral sclerosis type 8
+1 more
GBenign
LOC130066253, VAPB
Single nucleotide variant
Amyotrophic lateral sclerosis type 8
+1 more
GBenign
LOC130066253, VAPB
Single nucleotide variant
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
LOC130066253, VAPB
Microsatellite
(genic upstream transcript variant)
not provided
GBenign
LOC130066253, VAPB
Microsatellite
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GUncertain significance
LOC130066253, VAPB
Microsatellite
(5 prime UTR variant +1 more)
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GUncertain significance
VAPB, LOC130066253
Single nucleotide variant
(5 prime UTR variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
LOC130066253, VAPB
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
LOC130066253, VAPB
Insertion
(5 prime UTR variant +1 more)
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GUncertain significance
LOC130066253, VAPB
Insertion
(non-coding transcript variant +1 more)
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GUncertain significance
LOC130066253, VAPB
Duplication
(5 prime UTR variant +1 more)
not provided
GBenign
LOC130066253, VAPB
Duplication
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
VAPB, LOC130066253
Deletion
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC130066253, VAPB
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
LOC130066253, VAPB
Single nucleotide variant
(5 prime UTR variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
LOC130066253, VAPB
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GLikely benign
VAPB
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GBenign/Likely benign
VAPB
Single nucleotide variant
(5 prime UTR variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
(E5K)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(E5G)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(Q6E)
Single nucleotide variant
(missense variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
(Q6R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 8
+2 more
GConflicting classifications of pathogenicity
VAPB
(E11Q)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(P12S)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(P12L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
VAPB
(Q13P)
Single nucleotide variant
(missense variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
(E15K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VAPB
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
VAPB
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 8
+2 more
GConflicting classifications of pathogenicity
VAPB
Single nucleotide variant
(intron variant)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 8
+1 more
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 8
+1 more
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 8
+1 more
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
not provided
GBenign
VAPB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 8
+1 more
GBenign
VAPB
Microsatellite
(intron variant)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
Microsatellite
(intron variant)
Amyotrophic lateral sclerosis type 8
+1 more
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 8
+4 more
GBenign/Likely benign
VAPB
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GLikely benign
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
(D24N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
(V26A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
(T28A)
Single nucleotide variant
(missense variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
(N29D)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(N29S)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(K31N)
Single nucleotide variant
(missense variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
(P35L)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GBenign
VAPB
(D37H)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(D37A)
Single nucleotide variant
(missense variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
(D37E)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(N39fs)
Deletion
(frameshift variant +1 more)
Amyotrophic lateral sclerosis type 8
+2 more
GUncertain significance
VAPB
(N39I)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(C41fs)
Microsatellite
(frameshift variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GLikely benign
VAPB
(C41R)
Single nucleotide variant
(missense variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
(T46I)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
GPathogenic
VAPB
(R50L)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(R51G)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 8
+2 more
GBenign/Likely benign
VAPB
(C53fs)
Deletion
(frameshift variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
(P56D)
Indel
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(P56S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
VAPB
(P56R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
VAPB
(S58fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
VAPB-related condition
+3 more
GLikely benign
VAPB
(I60V)
Single nucleotide variant
(missense variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
(D62N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VAPB
(A63V)
Single nucleotide variant
(missense variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GLikely benign
VAPB
(A65T)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
(A65V)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GLikely benign
VAPB
(I67V)
Single nucleotide variant
(missense variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+2 more
GUncertain significance
VAPB
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 8
+1 more
GLikely benign
VAPB
(S70F)
Single nucleotide variant
(missense variant +1 more)
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
VAPB
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 8
+1 more
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 8
+1 more
GLikely benign
VAPB
Single nucleotide variant
(intron variant)
not provided
GBenign
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