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Links from MedGen

Items: 1 to 100 of 228

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GFM1
(V589A)
Single nucleotide variant
(missense variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(F238L +7 more)
Single nucleotide variant
(missense variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
(N136fs +6 more)
Deletion
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GPathogenic/Likely pathogenic
GFM1
(Q433* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(G138fs +2 more)
Deletion
(intron variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(Y108* +1 more)
Single nucleotide variant
(nonsense +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(T121fs +1 more)
Duplication
(frameshift variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(S372fs +7 more)
Deletion
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
Single nucleotide variant
(splice donor variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(L101* +1 more)
Single nucleotide variant
(nonsense +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(A207fs +7 more)
Duplication
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(L14* +6 more)
Single nucleotide variant
(nonsense +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GPathogenic/Likely pathogenic
GFM1
(A423fs +7 more)
Deletion
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(V40fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GFM1
Single nucleotide variant
(splice acceptor variant)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(V40fs)
Duplication
(frameshift variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(N158fs +6 more)
Duplication
(frameshift variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(F127fs +1 more)
Deletion
(frameshift variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
Single nucleotide variant
(splice acceptor variant)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(L121* +6 more)
Single nucleotide variant
(nonsense +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(N114fs +6 more)
Deletion
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(T121fs +1 more)
Indel
(frameshift variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
Single nucleotide variant
(splice acceptor variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(A53fs)
Microsatellite
(frameshift variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(I46fs)
Deletion
(frameshift variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
Single nucleotide variant
(splice acceptor variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(L170P +6 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(L119fs +2 more)
Duplication
(frameshift variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(Y160* +6 more)
Single nucleotide variant
(nonsense +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
Single nucleotide variant
(splice donor variant)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(G134fs +2 more)
Deletion
(frameshift variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(Q110* +6 more)
Single nucleotide variant
(nonsense +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GPathogenic/Likely pathogenic
GFM1
(G116fs +6 more)
Deletion
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GPathogenic
GFM1
(N121fs +6 more)
Deletion
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
Single nucleotide variant
(splice donor variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(Q278* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(Q408fs +7 more)
Deletion
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(I51S)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
(G152R +2 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
(S117Y +2 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
(E177K +6 more)
Single nucleotide variant
(missense variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
Single nucleotide variant
(synonymous variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
(S124F +6 more)
Single nucleotide variant
(missense variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
Deletion
(frameshift variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GFM1
(R247fs +7 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GFM1
(G564fs +7 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GFM1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GLikely pathogenic
GFM1
Single nucleotide variant
(splice donor variant)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GLikely pathogenic
GFM1
(I292fs +6 more)
Duplication
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GPathogenic
GFM1
(C495R +8 more)
Single nucleotide variant
(missense variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(A405P +7 more)
Single nucleotide variant
(missense variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
Single nucleotide variant
(splice acceptor variant)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GLikely pathogenic
GFM1
(Q357* +6 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GFM1
(W30fs)
Deletion
(frameshift variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GPathogenic/Likely pathogenic
GFM1
(E322fs +7 more)
Microsatellite
(frameshift variant +1 more)
See cases
+2 more
GPathogenic/Likely pathogenic
GFM1
(R178* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GFM1
(W23*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GFM1
(R131* +6 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GFM1
(R439* +7 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GFM1
(K163fs +6 more)
Deletion
(non-coding transcript variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GFM1
Deletion
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GFM1
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GLikely pathogenic
GFM1
(Y276fs +7 more)
Deletion
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GPathogenic
GFM1
(M487V +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
GFM1
(R175fs +6 more)
Deletion
(frameshift variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GLikely pathogenic
GFM1
(N115S +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GFM1
(A191V +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GFM1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GFM1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GFM1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GFM1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GFM1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GFM1
(R245C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
GFM1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
GFM1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
GFM1
Single nucleotide variant
(synonymous variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GConflicting classifications of pathogenicity
GFM1
(V137M +1 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GPathogenic
GFM1
(R380Q +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
GFM1
(R136* +6 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GFM1
(R298* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GPathogenic
GFM1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GFM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GLikely pathogenic
GFM1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
GFM1
Single nucleotide variant
(splice acceptor variant)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GLikely pathogenic
GFM1
(R61S +1 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
(E415* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GPathogenic
GFM1
Single nucleotide variant
(intron variant)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GConflicting classifications of pathogenicity
GFM1
(R172C +6 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GUncertain significance
GFM1
Single nucleotide variant
(synonymous variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
(G131C +2 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
(V148A +1 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GUncertain significance
GFM1
(A74G)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
(R241W +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GFM1
Deletion
(splice acceptor variant)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GPathogenic
GFM1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
GFM1
Deletion
(splice donor variant)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
+1 more
GLikely pathogenic
GFM1
(D83fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GFM1
(P313L +6 more)
Single nucleotide variant
(missense variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
(I14V +2 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
GFM1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
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