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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLA1
(R648Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
POLA1
(G1244V +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked reticulate pigmentary disorder
GUncertain significance
POLA1
Single nucleotide variant
(synonymous variant +1 more)
X-linked intellectual disability, van Esch type
+3 more
GLikely benign
POLA1
(R392H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
POLA1
Single nucleotide variant
(intron variant)
X-linked reticulate pigmentary disorder
+2 more
GBenign/Likely benign
POLA1
(K731R +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked reticulate pigmentary disorder
+2 more
GBenign/Likely benign
POLA1
(I1294V +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked reticulate pigmentary disorder
+3 more
GConflicting classifications of pathogenicity
POLA1
Single nucleotide variant
(synonymous variant)
X-linked reticulate pigmentary disorder
+2 more
GBenign/Likely benign
POLA1
(D1202H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
POLA1
(N132D +1 more)
Single nucleotide variant
(missense variant)
X-linked reticulate pigmentary disorder
GUncertain significance
POLA1
Single nucleotide variant
(intron variant)
X-linked reticulate pigmentary disorder
+1 more
GPathogenic
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