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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCI
(E96fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
FANCI, POLG
+1 more
(Q1236H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+12 more
GBenign/Likely benign
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
FANCI, POLG
+1 more
(T1227N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
POLG-related disorder
+3 more
GConflicting classifications of pathogenicity
FANCI, POLG
+1 more
(E1143G)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GBenign
FANCI, POLG
+1 more
Single nucleotide variant
(intron variant)
POLG-Related Spectrum Disorders
+7 more
GBenign/Likely benign
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