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Links from MedGen

Items: 1 to 100 of 163

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIGMAR1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(S105* +2 more)
Single nucleotide variant
(nonsense +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GPathogenic
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(V153fs +4 more)
Deletion
(frameshift variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GPathogenic
SIGMAR1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(M1T)
Single nucleotide variant
(synonymous variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(V3E)
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1, LOC130001681
Single nucleotide variant
(synonymous variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant +1 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(G131S +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
GUncertain significance
SIGMAR1
(G118E +4 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
GUncertain significance
SIGMAR1
(F91L +3 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(A127T +3 more)
Single nucleotide variant
(missense variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(R15L)
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(V53A +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
(R108W)
Single nucleotide variant
(synonymous variant +4 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(R155Q +3 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(Y103C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(intron variant)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
LOC130001681, SIGMAR1
(I42fs)
Deletion
(frameshift variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GPathogenic
LOC130001681, SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
LOC130001681, SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(A98S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(intron variant)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(3 prime UTR variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(G51A +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(intron variant)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(D168N +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(V177A +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1, LOC130001681
(Q44E)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
LOC130001681, SIGMAR1
(A19V)
Single nucleotide variant
(missense variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(V123L)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(T13M)
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(V104A +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(F38del +1 more)
Deletion
(5 prime UTR variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(R108P +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(intron variant)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
LOC130001681, SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(S132F)
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(R131K)
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GBenign
LOC130001681, SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(R133L)
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant +1 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+2 more
GLikely benign
SIGMAR1
(P135S +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(G51E +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(F199fs +3 more)
Deletion
(frameshift variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
LOC130001681, SIGMAR1
(V36L)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
LOC130001681, SIGMAR1
(W29*)
Single nucleotide variant
(nonsense +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GPathogenic
SIGMAR1
(T151M +4 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+2 more
GUncertain significance
SIGMAR1
(A61D +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
LOC130001681, SIGMAR1
(I42V)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(G137A +4 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
Deletion
(inframe_deletion +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(M170I +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(R175W +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
(A154V +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+2 more
GUncertain significance
SIGMAR1
(P70R +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+2 more
GUncertain significance
SIGMAR1
(S161N +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
(S113C +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
LOC130001681, SIGMAR1
Indel
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GBenign
SIGMAR1
Single nucleotide variant
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GBenign
SIGMAR1
(C16Y)
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
LOC130001681, SIGMAR1
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
LOC130001681, SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(S106G)
Single nucleotide variant
(synonymous variant +4 more)
SIGMAR1-related disorder
+2 more
GLikely benign
LOC130001681, SIGMAR1
Single nucleotide variant
(5 prime UTR variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(5 prime UTR variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(splice acceptor variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely pathogenic
SIGMAR1
(W133* +3 more)
Single nucleotide variant
(nonsense +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GPathogenic
LOC130001681, SIGMAR1
(E40K)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(R111W +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
DNAI1, DNAJB5
+15 more
Duplication
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+3 more
GUncertain significance
SIGMAR1
(V140L +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
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