U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 332

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENC1, GFM2
+1 more
Copy number loss
not specified
GUncertain significance
GFM2, HEXB
+1 more
Copy number gain
not specified
GUncertain significance
GFM2
Single nucleotide variant
(intron variant)
GFM2-related condition
GLikely benign
GFM2
Single nucleotide variant
(3 prime UTR variant +1 more)
GFM2-related condition
GLikely benign
GFM2
Single nucleotide variant
(synonymous variant +1 more)
GFM2-related condition
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
GFM2-related condition
GLikely benign
GFM2
Single nucleotide variant
(synonymous variant +2 more)
GFM2-related condition
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
GFM2-related condition
GLikely benign
GFM2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GFM2
(T695I +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 provided
GLikely benign
GFM2
(R467C +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
(C511R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(M33I +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GFM2
(D579fs +2 more)
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
GFM2
(D343G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
(E120V +1 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
(N569K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(I226T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(P49L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(R387H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GFM2
(V238I +1 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
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
(E263* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
GFM2
(R277K +1 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
(I671fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
(C368* +1 more)
Single nucleotide variant
(nonsense +2 more)
GFM2-related condition
GLikely pathogenic
GFM2
(M229L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(M418T +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
GFM2
(S703fs +2 more)
Duplication
(frameshift variant +1 more)
not specified
GUncertain significance
GFM2
(S693L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(E376A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(Q503R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(P221R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(V657I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(I121V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(I568V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(H492Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
(L531I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(Q716E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
Single nucleotide variant
(splice donor variant)
Combined oxidative phosphorylation deficiency 39
GLikely pathogenic
GFM2
(I689V +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(Q675* +2 more)
Single nucleotide variant
(nonsense +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2, HEXB
Duplication
not provided
GUncertain significance
GFM2, HEXB
Deletion
Sandhoff disease
GPathogenic
GFM2, HEXB
+9 more
Duplication
not provided
GUncertain significance
GFM2
(S567G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(R416Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(M10V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(R365H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(I188M +1 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
(D112E +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(L375P +1 more)
Single nucleotide variant
(missense variant +2 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(R514H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(R186W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(S46I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(R753H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(I598V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
GFM2
(A414G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(C622F +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(C24Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GFM2
(R149Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
(R355H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
(V268L +1 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
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
(I123V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFM2
(E415Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(I191N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(R103C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(R518Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
(N629D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GFM2
Single nucleotide variant
(synonymous 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
(P639L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(P470A +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
(T773P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(D112G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(E88K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(I551V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(K241E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(E503K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFM2
(I67M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(E88G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
GFM2
(F144S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination