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Links from Gene

Items: 1 to 100 of 796

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLA1
(S209F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(V1178I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLA1
(K869E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLA1
(Q887H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLA1
(Q548R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ARX, POLA1
Copy number gain
not specified
GUncertain significance
ACE2, ACOT9
+314 more
Copy number loss
not specified
GPathogenic
ACE2, ACOT9
+305 more
Copy number loss
not specified
GPathogenic
POLA1
Single nucleotide variant
(intron variant)
POLA1-related disorder
GLikely benign
POLA1
(K1056R +2 more)
Single nucleotide variant
(missense variant +1 more)
POLA1-related disorder
GUncertain significance
POLA1
(L720F +2 more)
Single nucleotide variant
(missense variant +1 more)
POLA1-related disorder
GUncertain significance
POLA1
(T1269I +2 more)
Single nucleotide variant
(missense variant +1 more)
POLA1-related disorder
GUncertain significance
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GBenign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLA1
(M1284T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(G1240R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
POLA1
(V1460M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
(Q1439E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Deletion
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Deletion
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
(D1392N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(I709T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLA1
(I755L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(R392C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
POLA1
(I1212V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(A1038V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
POLA1-related disorder
+1 more
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
POLA1
(I615V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
POLA1
Single nucleotide variant
(intron variant)
not provided
GBenign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GBenign
POLA1
(T1208I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
(R922Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
(A1383T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
(L734V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
(K812R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
(A1462T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
POLA1
(E792G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(A127T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(G6S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
(H688N +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
POLA1
(F255V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
POLA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLA1
(L1247F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
(V900I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
POLA1
(P1311L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(K661R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
(M544T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(R1309H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(S316G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(D96N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Insertion
(inframe_indel +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
POLA1
(L158V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(D1145Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
(P1135A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLA1
(P210L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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