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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RHBDL2
(Y285S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RHBDL2
(R261T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RHBDL2
(R158C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RHBDL2
(V145A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RHBDL2
(P109S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RHBDL2
(G104S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RHBDL2
(L101M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RHBDL2
(E28A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RHBDL2
(E103D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RHBDL2
(M89L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RHBDL2
(H5R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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