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Items: 1 to 100 of 332

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENC1, ERAP1
+690 more
Copy number gain
See cases
GPathogenic
GFM2, HEXB
+2 more
Copy number gain
See cases
GUncertain significance
GFM2, HEXB
(L321P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GFM2, HEXB
Single nucleotide variant
(3 prime UTR variant +1 more)
Sandhoff disease
GLikely benign
GFM2, HEXB
Deletion
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
GFM2, HEXB
Single nucleotide variant
(3 prime UTR variant +1 more)
Sandhoff disease
GUncertain significance
GFM2
(R774Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
GFM2
(L772F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(T770A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(Q798R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HEXB, GFM2
(Q766* +2 more)
Single nucleotide variant
(nonsense +1 more)
Sandhoff disease
GUncertain significance
GFM2
(M716V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(S703fs +2 more)
Duplication
(frameshift variant +1 more)
not specified
GUncertain significance
GFM2, HEXB
(T779fs +2 more)
Duplication
(frameshift variant +1 more)
Sandhoff disease
GUncertain significance
GFM2
(R697Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
HEXB, GFM2
(R697* +2 more)
Single nucleotide variant
(nonsense +1 more)
Sandhoff disease
GUncertain significance
GFM2
(R744G +2 more)
Single nucleotide variant
(missense variant +1 more)
GFM2-related condition
+2 more
GBenign
GFM2
(T773P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(S693L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(G691D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
GFM2
Deletion
(intron variant)
not provided
GBenign
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
Duplication
(intron variant)
not provided
GBenign
GFM2
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
GFM2
(I689V +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
GFM2
(I728T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
(Q675* +2 more)
Single nucleotide variant
(nonsense +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(R753H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(I671fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
GFM2
(Q716E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(R664fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GUncertain significance
GFM2
(V657I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(T695I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
(P720A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(L639fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation deficiency 39
GPathogenic
GFM2
Deletion
(intron variant)
not provided
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
(V674M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GLikely benign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
(C622F +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(S662T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GFM2
(S607N +2 more)
Indel
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(I598V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
(P639L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
GFM2
(H585Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(N629D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GFM2
(I627T +2 more)
Single nucleotide variant
(missense variant +1 more)
GFM2-related condition
+2 more
GBenign/Likely benign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
(G618S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(N569K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(N616S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(I568V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(S567G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
Microsatellite
(inframe_deletion +1 more)
not provided
GBenign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
GFM2
(S602del +2 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
GFM2
(I551V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(V546L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(R539S +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(R539S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(D579fs +2 more)
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
GFM2
(L531I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(D576E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
GFM2
Deletion
(intron variant)
not provided
GBenign
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
GFM2
(R573H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
GFM2
(R518Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
(A516fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
GFM2
(G558R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GFM2
(Y556C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
(E503K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
(K548E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
(R499Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
(R499* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
GFM2
(I493T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
(H492Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
(H539N +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 39
+1 more
GUncertain significance
GFM2
(T530A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
Deletion
(intron variant)
not provided
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
Display optionsSort by LocationDownload
Format
Items per page
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