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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112903839, MRPS22
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MRPS22
Single nucleotide variant
(synonymous variant)
MRPS22-related condition
+3 more
GBenign/Likely benign
MRPS22
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MRPS22
(T206I +2 more)
Single nucleotide variant
(missense variant)
MRPS22-related condition
+2 more
GConflicting classifications of pathogenicity
MRPS22
(H247Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
MRPS22
(R256H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MRPS22
(R263C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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