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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCI, POLG
+1 more
(Q1236H)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group I
+12 more
GBenign/Likely benign
FANCI, POLG
+1 more
(E1143G)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GBenign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Mitochondrial disease
GBenign
POLG, POLGARF
(W748S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 4b
+8 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(E662K)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GBenign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
POLGARF, POLG
(P587L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+14 more
GConflicting classifications of pathogenicity
POLGARF, POLG
Single nucleotide variant
(intron variant)
POLG-Related Spectrum Disorders
+2 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(G517V)
Single nucleotide variant
(missense variant)
POLG-related disorder
+11 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
POLG-related disorder
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(P324S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
POLGARF, POLG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+5 more
GBenign/Likely benign
POLG, POLGARF
Microsatellite
(intron variant)
not specified
+3 more
GBenign/Likely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
+4 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(Q226H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Microsatellite
(inframe_insertion)
Progressive sclerosing poliodystrophy
+8 more
GBenign/Likely benign
POLG, POLGARF
Microsatellite
(inframe_insertion)
Progressive sclerosing poliodystrophy
+11 more
GBenign/Likely benign
POLG, POLGARF
Microsatellite
(inframe_deletion)
Hereditary spastic paraplegia
+10 more
GBenign/Likely benign
POLG, POLGARF
(Q55del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+6 more
GBenign/Likely benign
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