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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNG, TIGD1
(S372F)
Single nucleotide variant
(missense variant)
CHRNG-related condition
+3 more
GConflicting classifications of pathogenicity
CHRNG, TIGD1
(S382L)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CHRNG, TIGD1
(R474H)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive multiple pterygium syndrome
+2 more
GUncertain significance
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