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Items: 1 to 100 of 259

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACER2, ACO1
+1005 more
Copy number gain
See cases
GPathogenic
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC132089671, LOC132089672
+1213 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
HRCT1, IFNA1
+1061 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+1119 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+882 more
Copy number gain
See cases
GPathogenic
LINC03026, LINC03041
+1366 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001672, LOC130001673
+983 more
Copy number gain
See cases
GPathogenic
DMAC1, DMRT1
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
LINC03041, LINC03106
+898 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860576, LOC126860577
+897 more
Copy number gain
See cases
GPathogenic
LOC130001469, LOC130001470
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
ERVFRD-3, FAM219A
+585 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+690 more
Copy number gain
See cases
GPathogenic
LOC126860615, LOC126860616
+435 more
Copy number gain
See cases
GLikely pathogenic
LOC130001735, LOC130001736
+503 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
ANKRD18B, ARID3C
+71 more
Copy number gain
not specified
GUncertain significance
PTENP1-AS, RECK
+211 more
Copy number loss
See cases
GPathogenic
SIGMAR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
Deletion
(splice acceptor variant)
Amyotrophic lateral sclerosis type 16
GLikely pathogenic
SIGMAR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive distal spinal muscular atrophy 2
+2 more
GBenign
SIGMAR1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SIGMAR1
Single nucleotide variant
(3 prime UTR variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(F199fs +3 more)
Deletion
(frameshift variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
(L187F +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
not provided
+2 more
GLikely benign
SIGMAR1
(E113K +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
GLikely pathogenic
SIGMAR1
(R211Q +3 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SIGMAR1
(R111W +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(G109D +3 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
SIGMAR1
(R108P +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
(R208Q +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
(R208W +3 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GBenign/Likely benign
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(Y106S +3 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
SIGMAR1
(S174F +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(T102I +3 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(L99F +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+2 more
GUncertain significance
SIGMAR1
(D168fs +3 more)
Deletion
(frameshift variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GConflicting classifications of pathogenicity
SIGMAR1
(S161N +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
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
Single nucleotide variant
(synonymous variant +3 more)
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
Deletion
(inframe_deletion +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+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
(A154P +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
(A165T +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+2 more
GBenign
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
(L182P +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
+2 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
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
(V177I +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+2 more
GUncertain significance
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Amyotrophic lateral sclerosis type 16
+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
(R175W +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
(G174S +3 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
SIGMAR1
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(V140L +3 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+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
(P135S +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(W133* +3 more)
Single nucleotide variant
(nonsense +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GPathogenic
SIGMAR1
(A61D +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(A128V +3 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
SIGMAR1
(V153fs +4 more)
Deletion
(frameshift variant +2 more)
Amyotrophic lateral sclerosis type 16
+1 more
GPathogenic
SIGMAR1
(G137A +4 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GUncertain significance
SIGMAR1
(R108L +4 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+2 more
GUncertain significance
SIGMAR1
(G155R +4 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+3 more
GConflicting classifications of pathogenicity
SIGMAR1
(R108W)
Single nucleotide variant
(synonymous variant +4 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(S106G)
Single nucleotide variant
(synonymous variant +4 more)
SIGMAR1-related disorder
+2 more
GLikely benign
SIGMAR1
(R159Q +1 more)
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GLikely benign
SIGMAR1
(T151M +4 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
+2 more
GUncertain significance
SIGMAR1
(T51A +4 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
GLikely pathogenic
SIGMAR1
(E130K +4 more)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely pathogenic
SIGMAR1
(G118E +4 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive distal spinal muscular atrophy 2
GUncertain significance
SIGMAR1
Single nucleotide variant
(intron variant)
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
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
(intron variant)
not provided
GBenign
SIGMAR1
Single nucleotide variant
(intron variant)
not provided
GBenign
SIGMAR1
Single nucleotide variant
(intron variant)
not provided
GBenign
SIGMAR1
Single nucleotide variant
(intron variant)
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
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 16
+1 more
GLikely benign
SIGMAR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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