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Links from MedGen

Items: 1 to 100 of 293

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-ND5
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-CYB
Single nucleotide variant
Mitochondrial disease
GUncertain significance
HIBCH
(R331W)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GUncertain significance
ATP5F1A
(L109S +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GUncertain significance
EME2, LOC130058183
+1 more
(L97F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial disease
GUncertain significance
TTC19
(Q151* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial disease
GPathogenic
TWNK
(R400C)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial disease
+1 more
GConflicting classifications of pathogenicity
ACO2
(D512N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MT-ND3
Single nucleotide variant
Mitochondrial disease
GUncertain significance
POLG, POLGARF
(T251I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
GUncertain significance
NARS2
Deletion
(intron variant)
Mitochondrial disease
GPathogenic
MT-CO1
Single nucleotide variant
Mitochondrial disease
GBenign
MRPL39
(G299V)
Single nucleotide variant
(missense variant)
Mitochondrial disease
+1 more
GPathogenic/Likely pathogenic
MT-ND2
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-CO1
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ND3
Single nucleotide variant
Mitochondrial disease
GLikely benign
DNM1L
(R507G +7 more)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GLikely pathogenic
DNM1L
Duplication
(inframe_insertion +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DNM1L
(G160D +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GLikely pathogenic
DNM1L
(G198S +2 more)
Single nucleotide variant
(missense variant)
DNM1L-related disorders
+1 more
GLikely pathogenic
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GUncertain significance
PIGY, PYURF
(Q97fs)
Microsatellite
(frameshift variant +1 more)
Mitochondrial disease
GPathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TL2
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TL2
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TN
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TL1
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TM
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TK
Single nucleotide variant
Mitochondrial disease
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial disease
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial disease
GUncertain significance
MT-TP
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-TF
Single nucleotide variant
Mitochondrial disease
GPathogenic
NDUFC2, NDUFC2-KCTD14
(H93fs +1 more)
Deletion
(frameshift variant +1 more)
Mitochondrial disease
GPathogenic
NDUFC2, NDUFC2-KCTD14
(H58L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial disease
GPathogenic
MT-TE
Single nucleotide variant
Mitochondrial disease
+4 more
GPathogenic
MT-ND1
Single nucleotide variant
Mitochondrial disease
+1 more
GPathogenic/Likely pathogenic
MT-ND6
Deletion
Mitochondrial disease
GPathogenic
TWNK
(R265C)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial disease
+4 more
GConflicting classifications of pathogenicity
MT-CYB
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ND5
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GBenign
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ATP6, MT-ATP8
Single nucleotide variant
Mitochondrial disease
GBenign
MT-CO2
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-CO1
Single nucleotide variant
Mitochondrial disease
GLikely benign
MT-ND2
Single nucleotide variant
Mitochondrial disease
GLikely benign
MT-ND2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND1
Single nucleotide variant
Mitochondrial disease
GUncertain significance
COQ8A
Indel
(missense variant)
Mitochondrial disease
GLikely pathogenic
COQ8A
Deletion
(splice acceptor variant +1 more)
Mitochondrial disease
GLikely pathogenic
LOC130061929, NDUFAF8
+1 more
(F18fs)
Duplication
(frameshift variant +1 more)
Mitochondrial disease
GPathogenic
LOC130061928, NDUFAF8
(M1V)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial disease
GPathogenic
NDUFAF8
Single nucleotide variant
(non-coding transcript variant +1 more)
Mitochondrial disease
+2 more
GPathogenic/Likely pathogenic
NDUFAF8
(F55L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial disease
GLikely pathogenic
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TE
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TL2
Single nucleotide variant
Mitochondrial disease
GBenign
MT-TL2
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TL2
Single nucleotide variant
Mitochondrial disease
+1 more
GUncertain significance
MT-TL2
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TR
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TR
Single nucleotide variant
Mitochondrial disease
+1 more
GPathogenic/Likely pathogenic
MT-TG
Single nucleotide variant
Mitochondrial disease
GBenign
MT-TD
Single nucleotide variant
Mitochondrial disease
+1 more
GPathogenic/Likely pathogenic
MT-TN
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TW
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TW
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TI
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TI
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TI
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TV
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TV
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TF
Single nucleotide variant
Mitochondrial disease
+1 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Single nucleotide variant
(intron variant)
Mitochondrial disease
GBenign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Mitochondrial disease
GBenign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Mitochondrial disease
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Mitochondrial disease
GBenign
POLG, POLGARF
(K1191R)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GUncertain significance
MT-ND6
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-CYB
Single nucleotide variant
Mitochondrial disease
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
Mitochondrial disease
GPathogenic
POLG, POLGARF
(Q1175*)
Single nucleotide variant
(nonsense)
Mitochondrial disease
GLikely pathogenic
OXA1L
(C147F)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GPathogenic
OXA1L
(S110fs)
Duplication
(frameshift variant)
Mitochondrial disease
GPathogenic
NDUFA6
(L119fs)
Deletion
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 33
+1 more
GPathogenic
NDUFA6
(M104fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GLikely pathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
+1 more
GConflicting classifications of pathogenicity
MT-ND4
Single nucleotide variant
Mitochondrial disease
+1 more
GConflicting classifications of pathogenicity
ATP5F1D
(V106G)
Single nucleotide variant
(missense variant)
Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
+1 more
GPathogenic
NDUFA6
(E89*)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 33
+1 more
GPathogenic
NDUFA6
(R64P)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 33
+1 more
GPathogenic
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