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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC100287944, POLR3B
(S909R +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GUncertain significance
LOC100287944, POLR3B
(C915F +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(E916* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(N924D +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GUncertain significance
POLR3B, LOC100287944
(I1002T +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(Y1003C +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
LOC100287944, POLR3B
(L1012P +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B, LOC100287944
(A1024V +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(L1059V +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(Q1060* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
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